Home HPRT1
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(Human) GRCh37 - chrX:133594175..133654543 (60.37 kb) View in Genome Browser
(Mouse) NCBIM37 - chrX:50341255..50374837 (33.58 kb) View in Genome Browser
(Rat) RGSC3.4 - chrX:139929647..139961616 (31.97 kb) View in Genome Browser
HaemAtlas Expression Table for HPRT1:|
Expression Legend
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Cell Types Showing Expression: Available
Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.
| Human | Mouse | Rat | ||||||||||
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| ductal cells | exocrine pancreas | pancreatic islets | primary beta cells | Pancreatic Islets MPSS | beta cell line | pancreatic islets | whole pancreas | alpha cell | beta cell line | pancreatic islets | primary beta cells | whole pancreas |
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The Beta Cell Gene Atlas is a collection of almost all available public microarray data generated with pancreatic beta cells and related cell lines and types. The expression data comes from 131 array analyses derived from 28 experiments (open details in a new window). The basal (untreated cell) expression signal intensity values in each array were converted to ranks within the experiments; the highest value was used for genes represented by more than one probe. The rank values of genes in a given cell type were averaged with other calculated values from experiments performed with the same cell type. The rank transformation of the expression values enable comparison of gene expression across different organisms and tissues.
A red border around a cell indicates greater certainty in the data; specifically, the gene has >0.95 probability of being expressed in the tissue.
Tissues Showing Expression: Available
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| Signal intensity values were converted to ranks within the experiments. For genes represented by more than one probeset, we averaged the intensity signals for each probeset across all tissues and chose the probeset with the highest average value. The rank transformation of the expression values enables comparison of gene expression across different organisms and tissues. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Interactions Table for HPRT1:The HPRT1 interactions are shown below. Each row lists the two interactors, the sources which document this as an interaction, a classification of the interaction as empirical or predicted, and Pubmed IDs (if any) for the interaction.
The table of interactions is downloadable as a text file. Please note that the text file will not include data from HPRD due to restrictions imposed by the HPRD funding sources.
| Interactor | Interactor | Sources | Classification | Pubmed IDs |
| HPRT1 | EIF1B | IntAct, BioGRID | empirical | 17353931 |
| HPRT1 | GABARAP | IntAct | empirical | 20562859 |
| HPRT1 | GABARAPL2 | IntAct | empirical | 17353931 |
| HPRT1 | ALDH16A1 | IntAct | empirical | 16619302 |
| HPRT1 | EPB41 | IntAct | empirical | 17353931 |
| HPRT1 | GABARAPL1 | IntAct | empirical | 20562859 |
| HPRT1 | FTSJ1 | IntAct | empirical | 17353931 |
| HPRT1 | HLA-B | IntAct | empirical | 17353931 |
| HPRT1 | HPRT1 | HPRD, MINT, IntAct, Sanger Interaction Map | empirical | 8044844 11591653 15345047 |
| HPRT1 | HUS1 | IntAct, BioGRID | empirical | 17353931 |
| HPRT1 | MCC | IntAct, BioGRID | empirical | 17353931 |
| HPRT1 | WDYHV1 | HPRD, MINT, IntAct, BioGRID | empirical | 16189514 19060904 |
| HPRT1 | PRKAB1 | IntAct | empirical | 17353931 |
| HPRT1 | PRTFDC1 | HPRD, MINT, IntAct, BioGRID | empirical | 16189514 |
| HPRT1 | SLC2A4 | IntAct | empirical | 16396496 |
| HPRT1 | TRAF6 | IntAct | empirical | 17353931 |
| HPRT1 | UBC | BioGRID | empirical | 16196087 20639865 18781797 21987572 21139048 21890473 21906983 |
| HPRT1 | VHL | IntAct | empirical | 17353931 |
| HPRT1 | CBLB | Sanger Interaction Map | predicted | 15345047 |
| HPRT1 | TNFRSF14 | IntAct | empirical | 17353931 |
| HPRT1 | ATG5 | IntAct | empirical | 17353931 |
| HPRT1 | IKBKE | IntAct | empirical | 17353931 |
| HPRT1 | KIAA0101 | BioGRID | empirical | 21628590 |
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Publications: 354
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Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels.
Lee KA, Hammerle LP, Andrews PS, Stokes MP, Mustelin T, Silva JC, Black RA, Doedens JR
J Biol Chem. 2011
PubMed ID: 21987572
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A regulatory archipelago controls Hox genes transcription in digits.
Montavon T, Soshnikova N, Mascrez B, Joye E, Thevenet L, Splinter E, de Laat W, Spitz F, Duboule D
Cell. 2011
PubMed ID: 22118467
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Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells.
Xu D, Liu X, Yu WM, Meyerson HJ, Guo C, Gerson SL, Qu CK
J Exp Med. 2011
PubMed ID: 21930766
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Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development.
Makki N, Capecchi MR
Dev Biol. 2011
PubMed ID: 21784065
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Dcdc2 knockout mice display exacerbated developmental disruptions following knockdown of doublecortin.
Wang Y, Yin X, Rosen G, Gabel L, Guadiana SM, Sarkisian MR, Galaburda AM, Loturco JJ
Neuroscience. 2011
PubMed ID: 21689730
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Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development.
Urness LD, Bleyl SB, Wright TJ, Moon AM, Mansour SL
Dev Biol. 2011
PubMed ID: 21664901
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Deletion of the mammalian INDY homolog mimics aspects of dietary restriction and protects against adiposity and insulin resistance in mice.
Birkenfeld AL, Lee HY, Guebre-Egziabher F, Alves TC, Jurczak MJ, Jornayvaz FR, Zhang D, Hsiao JJ, Martin-Montalvo A, Fischer-Rosinsky A, Spranger J, Pfeiffer AF, Jordan J, Fromm MF, König J, Lieske S, Carmean CM, Frederick DW, Weismann D, Knauf F, Irusta PM, De Cabo R, Helfand SL, Samuel VT, Shulman GI
Cell Metab. 2011
PubMed ID: 21803289
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Specific and integrated roles of Lmx1a, Lmx1b and Phox2a in ventral midbrain development.
Deng Q, Andersson E, Hedlund E, Alekseenko Z, Coppola E, Panman L, Millonig JH, Brunet JF, Ericson J, Perlmann T
Development. 2011
PubMed ID: 21752929
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Incomplete X-inactivation initiated by a hypomorphic Xist allele in the mouse.
Hoki Y, Ikeda R, Mise N, Sakata Y, Ohhata T, Sasaki H, Abe K, Sado T
Development. 2011
PubMed ID: 21613321
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Reshuffling genomic landscapes to study the regulatory evolution of Hox gene clusters.
Tschopp P, Fraudeau N, Béna F, Duboule D
Proc Natl Acad Sci U S A. 2011
PubMed ID: 21670281
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Novel mutations in the human HPRT gene.
Nguyen KV, Naviaux RK, Paik KK, Nyhan WL
Nucleosides Nucleotides Nucleic Acids. 2011
PubMed ID: 21780909
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Deletion of the betaine-GABA transporter (BGT1; slc6a12) gene does not affect seizure thresholds of adult mice.
Lehre AC, Rowley NM, Zhou Y, Holmseth S, Guo C, Holen T, Hua R, Laake P, Olofsson AM, Poblete-Naredo I, Rusakov DA, Madsen KK, Clausen RP, Schousboe A, White HS, Danbolt NC
Epilepsy Res. 2011
PubMed ID: 21459558
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Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.
McMahon A, Butovich IA, Kedzierski W
J Lipid Res. 2011
PubMed ID: 21429867
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Hypoxanthine guanine phosphoribosyltransferase distorts the purine ring of nucleotide substrates and perturbs the pKa of bound xanthosine monophosphate.
Gogia S, Balaram H, Puranik M
Biochemistry. 2011
PubMed ID: 21486037
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Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice.
Chan AC, Drakos SG, Ruiz OE, Smith AC, Gibson CC, Ling J, Passi SF, Stratman AN, Sacharidou A, Revelo MP, Grossmann AH, Diakos NA, Davis GE, Metzstein MM, Whitehead KJ, Li DY
J Clin Invest. 2011
PubMed ID: 21490399
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Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development.
Hu H, Li J, Gagen CS, Gray NW, Zhang Z, Qi Y, Zhang P
J Comp Neurol. 2011
PubMed ID: 21452199
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AT1A angiotensin receptors in the renal proximal tubule regulate blood pressure.
Gurley SB, Riquier-Brison AD, Schnermann J, Sparks MA, Allen AM, Haase VH, Snouwaert JN, Le TH, McDonough AA, Koller BH, Coffman TM
Cell Metab. 2011
PubMed ID: 21459331
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T-cell factor 4 functions as a tumor suppressor whose disruption modulates colon cell proliferation and tumorigenesis.
Angus-Hill ML, Elbert KM, Hidalgo J, Capecchi MR
Proc Natl Acad Sci U S A. 2011
PubMed ID: 21383188
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A regulatory 'landscape effect' over the HoxD cluster.
Tschopp P, Duboule D
Dev Biol. 2011
PubMed ID: 21195707
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Smad1 and its target gene Wif1 coordinate BMP and Wnt signaling activities to regulate fetal lung development.
Xu B, Chen C, Chen H, Zheng SG, Bringas P, Xu M, Zhou X, Chen D, Umans L, Zwijsen A, Shi W
Development. 2011
PubMed ID: 21270055
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Therapeutic benefits in thalassemic mice transplanted with long-term-cultured bone marrow cells.
Hatada S, Walton W, Hatada T, Wofford A, Fox R, Liu N, Lill MC, Fair JH, Kirby SL, Smithies O
Exp Hematol. 2011
PubMed ID: 21184801
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Vascular bed-specific regulation of the von Willebrand factor promoter in the heart and skeletal muscle.
Liu J, Yuan L, Molema G, Regan E, Janes L, Beeler D, Spokes KC, Okada Y, Minami T, Oettgen P, Aird WC
Blood. 2011
PubMed ID: 20980682
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Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.
O'Leary J, Osborne LR
PLoS One. 2011
PubMed ID: 21909369
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Importance of suitable reference gene selection for quantitative real-time PCR: special reference to mouse myocardial infarction studies.
Everaert BR, Boulet GA, Timmermans JP, Vrints CJ
PLoS One. 2011
PubMed ID: 21858224
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The BMP antagonist follistatin-like 1 is required for skeletal and lung organogenesis.
Sylva M, Li VS, Buffing AA, van Es JH, van den Born M, van der Velden S, Gunst Q, Koolstra JH, Moorman AF, Clevers H, van den Hoff MJ
PLoS One. 2011
PubMed ID: 21826198
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PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
Keebaugh AC, Mitchell HA, Gaval-Cruz M, Freeman KG, Edwards GL, Weinshenker D, Thomas JW
PLoS One. 2011
PubMed ID: 21818316
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Deterministic and stochastic allele specific gene expression in single mouse blastomeres.
Tang F, Barbacioru C, Nordman E, Bao S, Lee C, Wang X, Tuch BB, Heard E, Lao K, Surani MA
PLoS One. 2011
PubMed ID: 21731673
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HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
Kang TH, Guibinga GH, Jinnah HA, Friedmann T
PLoS One. 2011
PubMed ID: 21305049
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Initial characterization of the human central proteome.
Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Bürckstümmer T, Bennett KL, Superti-Furga G, Colinge J
BMC Syst Biol. 2011
PubMed ID: 21269460
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A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A
PLoS Biol. 2011
PubMed ID: 21267068
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Connective tissue fibroblasts and Tcf4 regulate myogenesis.
Mathew SJ, Hansen JM, Merrell AJ, Murphy MM, Lawson JA, Hutcheson DA, Hansen MS, Angus-Hill M, Kardon G
Development. 2011
PubMed ID: 21177349
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Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA
Hum Genet. 2011
PubMed ID: 20981450
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Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme.
Airik R, Trowe MO, Foik A, Farin HF, Petry M, Schuster-Gossler K, Schweizer M, Scherer G, Kist R, Kispert A
Hum Mol Genet. 2010
PubMed ID: 20881014
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Identification of mouse mutant cells exhibiting plastic mutant phenotype II; ionizing radiation-induced mutant phenotype plasticity is not dependent on DNA methylation of the hypoxanthine phosphoribosyl transferase gene in mouse FM3A cells.
Yamauchi M, Fukutsu K, Sakagami M, Miyazaki T, Yamada Y
Biosci Trends. 2010
PubMed ID: 21248429
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PiggyBac transposon mutagenesis: a tool for cancer gene discovery in mice.
Rad R, Rad L, Wang W, Cadinanos J, Vassiliou G, Rice S, Campos LS, Yusa K, Banerjee R, Li MA, de la Rosa J, Strong A, Lu D, Ellis P, Conte N, Yang FT, Liu P, Bradley A
Science. 2010
PubMed ID: 20947725
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Epithelial Notch signaling regulates interstitial fibrosis development in the kidneys of mice and humans.
Bielesz B, Sirin Y, Si H, Niranjan T, Gruenwald A, Ahn S, Kato H, Pullman J, Gessler M, Haase VH, Susztak K
J Clin Invest. 2010
PubMed ID: 20978353
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Renal oxygenation suppresses VHL loss-induced senescence that is caused by increased sensitivity to oxidative stress.
Welford SM, Dorie MJ, Li X, Haase VH, Giaccia AJ
Mol Cell Biol. 2010
PubMed ID: 20679489
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A regulatory toolbox of MiniPromoters to drive selective expression in the brain.
Portales-Casamar E, Swanson DJ, Liu L, de Leeuw CN, Banks KG, Ho Sui SJ, Fulton DL, Ali J, Amirabbasi M, Arenillas DJ, Babyak N, Black SF, Bonaguro RJ, Brauer E, Candido TR, Castellarin M, Chen J, Chen Y, Cheng JC, Chopra V, Docking TR, Dreolini L, D'Souza CA, Flynn EK, Glenn R, Hatakka K, Hearty TG, Imanian B, Jiang S, Khorasan-zadeh S, Komljenovic I, Laprise S, Liao NY, Lim JS, Lithwick S, Liu F, Liu J, Lu M, McConechy M, McLeod AJ, Milisavljevic M, Mis J, O'Connor K, Palma B, Palmquist DL, Schmouth JF, Swanson MI, Tam B, Ticoll A, Turner JL, Varhol R, Vermeulen J, Watkins RF, Wilson G, Wong BK, Wong SH, Wong TY, Yang GS, Ypsilanti AR, Jones SJ, Holt RA, Goldowitz D, Wasserman WW, Simpson EM
Proc Natl Acad Sci U S A. 2010
PubMed ID: 20807748
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A rapid strategy to detect the recombined allele in LSL-TβRICA transgenic mice.
Vincent DF, Kaniewski B, Powers SE, Havenar-Daughton C, Marie JC, Wotton D, Bartholin L
Genesis. 2010
PubMed ID: 20645310
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Antiproliferative effects induced by guanine-based purines require hypoxanthine-guanine phosphoribosyltransferase activity.
Garozzo R, Sortino MA, Vancheri C, Condorelli DF
Biol Chem. 2010
PubMed ID: 20536392
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The activating mutation R201C in GNAS promotes intestinal tumourigenesis in Apc(Min/+) mice through activation of Wnt and ERK1/2 MAPK pathways.
Wilson CH, McIntyre RE, Arends MJ, Adams DJ
Oncogene. 2010
PubMed ID: 20531296
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Global analysis of lysine ubiquitination by ubiquitin remnant immunoaffinity profiling.
Xu G, Paige JS, Jaffrey SR
Nat Biotechnol. 2010
PubMed ID: 20639865
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CD13 is dispensable for normal hematopoiesis and myeloid cell functions in the mouse.
Winnicka B, O'Conor C, Schacke W, Vernier K, Grant CL, Fenteany FH, Pereira FE, Liang B, Kaur A, Zhao R, Montrose DC, Rosenberg DW, Aguila HL, Shapiro LH
J Leukoc Biol. 2010
PubMed ID: 20430777
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Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
Garcia MG, Torres RJ, Puig JG
Nucleosides Nucleotides Nucleic Acids. 2010
PubMed ID: 20544511
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Partial HPRT deficiency phenotype and incomplete splicing mutation.
Torres RJ, Garcia MG, Puig JG
Nucleosides Nucleotides Nucleic Acids. 2010
PubMed ID: 20544510
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Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
Nucleosides Nucleotides Nucleic Acids. 2010
PubMed ID: 20544509
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Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.
Tereshchenko IV, Chen Y, McDaniel LD, Schultz RA, Tischfield JA, Shao C
DNA Repair (Amst). 2010
PubMed ID: 20299287
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Requirement of the NF-kappaB subunit p65/RelA for K-Ras-induced lung tumorigenesis.
Bassères DS, Ebbs A, Levantini E, Baldwin AS
Cancer Res. 2010
PubMed ID: 20406971
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FGF signaling regulates otic placode induction and refinement by controlling both ectodermal target genes and hindbrain Wnt8a.
Urness LD, Paxton CN, Wang X, Schoenwolf GC, Mansour SL
Dev Biol. 2010
PubMed ID: 20171206
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The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME
Cell. 2010
PubMed ID: 20211139
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NF-kappaB functions in stromal fibroblasts to regulate early postnatal muscle development.
Dahlman JM, Bakkar N, He W, Guttridge DC
J Biol Chem. 2010
PubMed ID: 20018862
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A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.
Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffield VC
Proc Natl Acad Sci U S A. 2010
PubMed ID: 20080592
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In vitro and in vivo effects on neural crest stem cell differentiation by conditional activation of Runx1 short isoform and its effect on neuropathic pain behavior.
Kanaykina N, Abelson K, King D, Liakhovitskaia A, Schreiner S, Wegner M, Kozlova EN
Ups J Med Sci. 2010
PubMed ID: 20187849
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Validation of suitable internal control genes for expression studies in aging.
Zampieri M, Ciccarone F, Guastafierro T, Bacalini MG, Calabrese R, Moreno-Villanueva M, Reale A, Chevanne M, Bürkle A, Caiafa P
Mech Ageing Dev. 2010
PubMed ID: 20038437
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Pediatric neurological syndromes and inborn errors of purine metabolism.
Camici M, Micheli V, Ipata PL, Tozzi MG
Neurochem Int. 2010
PubMed ID: 20005278
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Sequence-specific correction of genomic hypoxanthine-guanine phosphoribosyl transferase mutations in lymphoblasts by small fragment homologous replacement.
Bedayat B, Abdolmohamadi A, Ye L, Maurisse R, Parsi H, Schwarz J, Emamekhoo H, Nicklas JA, O'Neill JP, Gruenert DC
Oligonucleotides. 2010
PubMed ID: 19995283
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Transcription-dependent cytosine deamination is a novel mechanism in ultraviolet light-induced mutagenesis.
Hendriks G, Calléja F, Besaratinia A, Vrieling H, Pfeifer GP, Mullenders LH, Jansen JG, de Wind N
Curr Biol. 2010
PubMed ID: 20045328
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Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice.
Jörs S, Grimm C, Becker L, Heller S
PLoS One. 2010
PubMed ID: 21179200
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High-fat diet: bacteria interactions promote intestinal inflammation which precedes and correlates with obesity and insulin resistance in mouse.
Ding S, Chi MM, Scull BP, Rigby R, Schwerbrock NM, Magness S, Jobin C, Lund PK
PLoS One. 2010
PubMed ID: 20808947
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Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis.
Guibinga GH, Hsu S, Friedmann T
Mol Ther. 2010
PubMed ID: 19672249
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Engineering neuronal nicotinic acetylcholine receptors with functional sensitivity to alpha-bungarotoxin: a novel alpha3-knock-in mouse.
Caffery PM, Krishnaswamy A, Sanders T, Liu J, Hartlaub H, Klysik J, Cooper E, Hawrot E
Eur J Neurosci. 2009
PubMed ID: 20128845
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Essential role of the RNA-binding protein HuR in progenitor cell survival in mice.
Ghosh M, Aguila HL, Michaud J, Ai Y, Wu MT, Hemmes A, Ristimaki A, Guo C, Furneaux H, Hla T
J Clin Invest. 2009
PubMed ID: 19884656
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The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors.
Town L, McGlinn E, Fiorenza S, Metzis V, Butterfield NC, Richman JM, Wicking C
Dev Dyn. 2009
PubMed ID: 19877269
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Androgen action via testicular peritubular myoid cells is essential for male fertility.
Welsh M, Saunders PT, Atanassova N, Sharpe RM, Smith LB
FASEB J. 2009
PubMed ID: 19692648
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NF-kappaB activity is constitutively elevated in c-Abl null fibroblasts.
Liberatore RA, Goff SP, Nunes I
Proc Natl Acad Sci U S A. 2009
PubMed ID: 19805123
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Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.
Wang Z, Kumamoto Y, Wang P, Gan X, Lehmann D, Smrcka AV, Cohn L, Iwasaki A, Li L, Wu D
J Biol Chem. 2009
PubMed ID: 19713215
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Mouse mammary tumor virus p75 and p110 CUX1 transgenic mice develop mammary tumors of various histologic types.
Cadieux C, Kedinger V, Yao L, Vadnais C, Drossos M, Paquet M, Nepveu A
Cancer Res. 2009
PubMed ID: 19738070
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Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease.
Nguyen T, Vacek PM, O'Neill P, Colletti RB, Finette BA
Cancer Res. 2009
PubMed ID: 19706768
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The Down syndrome critical region gene 1 short variant promoters direct vascular bed-specific gene expression during inflammation in mice.
Minami T, Yano K, Miura M, Kobayashi M, Suehiro J, Reid PC, Hamakubo T, Ryeom S, Aird WC, Kodama T
J Clin Invest. 2009
PubMed ID: 19620774
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Biomarker system for studying muscle, stem cells, and cancer in vivo.
Nishijo K, Hosoyama T, Bjornson CR, Schaffer BS, Prajapati SI, Bahadur AN, Hansen MS, Blandford MC, McCleish AT, Rubin BP, Epstein JA, Rando TA, Capecchi MR, Keller C
FASEB J. 2009
PubMed ID: 19332644
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The canonical NF-kappaB pathway is required for formation of luminal mammary neoplasias and is activated in the mammary progenitor population.
Pratt MA, Tibbo E, Robertson SJ, Jansson D, Hurst K, Perez-Iratxeta C, Lau R, Niu MY
Oncogene. 2009
PubMed ID: 19483731
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Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics.
Keough DT, Hocková D, Holý A, Naesens LM, Skinner-Adams TS, Jersey J, Guddat LW
J Med Chem. 2009
PubMed ID: 19527031
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Requirement for Twist1 in frontonasal and skull vault development in the mouse embryo.
Bildsoe H, Loebel DA, Jones VJ, Chen YT, Behringer RR, Tam PP
Dev Biol. 2009
PubMed ID: 19414008
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Tissue selective expression of conditionally-regulated ROCK by gene targeting to a defined locus.
Samuel MS, Munro J, Bryson S, Forrow S, Stevenson D, Olson MF
Genesis. 2009
PubMed ID: 19391117
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Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA
Hum Mol Genet. 2009
PubMed ID: 19342420
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Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.
Chen IP, Wang CJ, Strecker S, Koczon-Jaremko B, Boskey A, Reichenberger EJ
J Bone Miner Res. 2009
PubMed ID: 19257826
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Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1.
Baek KH, Zaslavsky A, Lynch RC, Britt C, Okada Y, Siarey RJ, Lensch MW, Park IH, Yoon SS, Minami T, Korenberg JR, Folkman J, Daley GQ, Aird WC, Galdzicki Z, Ryeom S
Nature. 2009
PubMed ID: 19458618
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iNKT cell development is orchestrated by different branches of TGF-beta signaling.
Doisne JM, Bartholin L, Yan KP, Garcia CN, Duarte N, Le Luduec JB, Vincent D, Cyprian F, Horvat B, Martel S, Rimokh R, Losson R, Benlagha K, Marie JC
J Exp Med. 2009
PubMed ID: 19451264
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NAD metabolism in HPRT-deficient mice.
Micheli V, Jacomelli G, Di Marcello F, Notarantonio L, Sestini S, Cerboni B, Bertelli M, Pompucci G, Jinnah HA
Metab Brain Dis. 2009
PubMed ID: 19319672
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Targeted transgenesis at the HPRT locus: an efficient strategy to achieve tightly controlled in vivo conditional expression with the tet system.
Palais G, Nguyen Dinh Cat A, Friedman H, Panek-Huet N, Millet A, Tronche F, Gellen B, Mercadier JJ, Peterson A, Jaisser F
Physiol Genomics. 2009
PubMed ID: 19141541
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A new model for studying tissue-specific mdr1a gene expression in vivo by live imaging.
Gu L, Tsark WM, Brown DA, Blanchard S, Synold TW, Kane SE
Proc Natl Acad Sci U S A. 2009
PubMed ID: 19282474
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Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus.
Yang GS, Banks KG, Bonaguro RJ, Wilson G, Dreolini L, de Leeuw CN, Liu L, Swanson DJ, Goldowitz D, Holt RA, Simpson EM
Genomics. 2009
PubMed ID: 18950699
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A multifunctional reporter mouse line for Cre- and FLP-dependent lineage analysis.
Yamamoto M, Shook NA, Kanisicak O, Yamamoto S, Wosczyna MN, Camp JR, Goldhamer DJ
Genesis. 2009
PubMed ID: 19165827
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The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases.
Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, Mayo AH, Drakos SG, Marchuk DA, Davis GE, Li DY
Nat Med. 2009
PubMed ID: 19151728
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Aurora-A kinase is essential for bipolar spindle formation and early development.
Cowley DO, Rivera-Pérez JA, Schliekelman M, He YJ, Oliver TG, Lu L, O'Quinn R, Salmon ED, Magnuson T, Van Dyke T
Mol Cell Biol. 2009
PubMed ID: 19075002
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Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals.
Kudo M, Saito Y, Sasaki T, Akasaki H, Yamaguchi Y, Uehara M, Fujikawa K, Ishikawa M, Hirasawa N, Hiratsuka M
Drug Metab Pharmacokinet. 2009
PubMed ID: 20045992
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Gnotobiotic IL-10; NF-kappaB mice develop rapid and severe colitis following Campylobacter jejuni infection.
Lippert E, Karrasch T, Sun X, Allard B, Herfarth HH, Threadgill D, Jobin C
PLoS One. 2009
PubMed ID: 19841748
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Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling.
Ling KH, Hewitt CA, Beissbarth T, Hyde L, Banerjee K, Cheah PS, Cannon PZ, Hahn CN, Thomas PQ, Smyth GK, Tan SS, Thomas T, Scott HS
Genome Biol. 2009
PubMed ID: 19799774
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Impaired Bub1 function in vivo compromises tension-dependent checkpoint function leading to aneuploidy and tumorigenesis.
Schliekelman M, Cowley DO, O'Quinn R, Oliver TG, Lu L, Salmon ED, Van Dyke T
Cancer Res. 2009
PubMed ID: 19117986
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An empirical framework for binary interactome mapping.
Venkatesan K, Rual JF, Vazquez A, Stelzl U, Lemmens I, Hirozane-Kishikawa T, Hao T, Zenkner M, Xin X, Goh KI, Yildirim MA, Simonis N, Heinzmann K, Gebreab F, Sahalie JM, Cevik S, Simon C, de Smet AS, Dann E, Smolyar A, Vinayagam A, Yu H, Szeto D, Borick H, Dricot A, Klitgord N, Murray RR, Lin C, Lalowski M, Timm J, Rau K, Boone C, Braun P, Cusick ME, Roth FP, Hill DE, Tavernier J, Wanker EE, Barabási AL, Vidal M
Nat Methods. 2009
PubMed ID: 19060904
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A proximal conserved repeat in the Xist gene is essential as a genomic element for X-inactivation in mouse.
Hoki Y, Kimura N, Kanbayashi M, Amakawa Y, Ohhata T, Sasaki H, Sado T
Development. 2009
PubMed ID: 19036803
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A DNA transposon-based approach to validate oncogenic mutations in the mouse.
Su Q, Prosser HM, Campos LS, Ortiz M, Nakamura T, Warren M, Dupuy AJ, Jenkins NA, Copeland NG, Bradley A, Liu P
Proc Natl Acad Sci U S A. 2008
PubMed ID: 19064922
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Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
Jurecka A, Popowska E, Tylki-Szymanska A, Kubalska J, Ciara E, Krumina Z, Sykut-Cegielska J, Pronicka E
J Inherit Metab Dis. 2008
PubMed ID: 19016344
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Attribution of vascular phenotypes of the murine Egfl7 locus to the microRNA miR-126.
Kuhnert F, Mancuso MR, Hampton J, Stankunas K, Asano T, Chen CZ, Kuo CJ
Development. 2008
PubMed ID: 18987025
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A haplotype of human angiotensinogen gene containing -217A increases blood pressure in transgenic mice compared with -217G.
Jain S, Vinukonda G, Fiering SN, Kumar A
Am J Physiol Regul Integr Comp Physiol. 2008
PubMed ID: 18945948
-
De novo DNA methylation independent establishment of maternal imprint on X chromosome in mouse oocytes.
Chiba H, Hirasawa R, Kaneda M, Amakawa Y, Li E, Sado T, Sasaki H
Genesis. 2008
PubMed ID: 18932249
-
Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis.
Harney SM, Vilariño-Güell C, Adamopoulos IE, Sims AM, Lawrence RW, Cardon LR, Newton JL, Meisel C, Pointon JJ, Darke C, Athanasou N, Wordsworth BP, Brown MA
Rheumatology (Oxford). 2008
PubMed ID: 18835879
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Generation of mice with conditionally activated transforming growth factor beta signaling through the TbetaRI/ALK5 receptor.
Bartholin L, Cyprian FS, Vincent D, Garcia CN, Martel S, Horvat B, Berthet C, Goddard-Léon S, Treilleux I, Rimokh R, Marie JC
Genesis. 2008
PubMed ID: 18821589
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Kalirin-7 is required for synaptic structure and function.
Ma XM, Kiraly DD, Gaier ED, Wang Y, Kim EJ, Levine ES, Eipper BA, Mains RE
J Neurosci. 2008
PubMed ID: 19020030
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Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Hansen GM, Markesich DC, Burnett MB, Zhu Q, Dionne KM, Richter LJ, Finnell RH, Sands AT, Zambrowicz BP, Abuin A
Genome Res. 2008
PubMed ID: 18799693
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Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry.
Meierhofer D, Wang X, Huang L, Kaiser P
J Proteome Res. 2008
PubMed ID: 18781797
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A GABP-binding element in the Robo4 promoter is necessary for endothelial expression in vivo.
Okada Y, Jin E, Nikolova-Krstevski V, Yano K, Liu J, Beeler D, Spokes K, Kitayama M, Funahashi N, Doi T, Janes L, Minami T, Oettgen P, Aird WC
Blood. 2008
PubMed ID: 18519813
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Hypoxia-inducible factor-2 regulates vascular tumorigenesis in mice.
Rankin EB, Rha J, Unger TL, Wu CH, Shutt HP, Johnson RS, Simon MC, Keith B, Haase VH
Oncogene. 2008
PubMed ID: 18490920
-
Discordant on/off switching of gene expression in myocytes during cardiac hypertrophy in vivo.
Pandya K, Cowhig J, Brackhan J, Kim HS, Hagaman J, Rojas M, Carter CW, Mao L, Rockman HA, Maeda N, Smithies O
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18755891
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Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
Hladnik U, Nyhan WL, Bertelli M
Arch Neurol. 2008
PubMed ID: 18779430
-
Acrylamide-induced molecular mutation spectra at HPRT locus in human promyelocytic leukaemia HL-60 and NB4 cell lines.
Ao L, Liu SX, Yang MS, Fong CC, An H, Cao J
Mutagenesis. 2008
PubMed ID: 18407966
-
The role for glutamic acid at position 196 in human hypoxanthine phosphoribosyltransferase (HPRT) as investigated using site-directed mutagenesis.
Canyuk B, E-Wan A, Keawwijit W, Nualnoi T, Sirisatean L, Tansakul P, Tanthana C
Nucleosides Nucleotides Nucleic Acids. 2008
PubMed ID: 18600559
-
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
Nucleosides Nucleotides Nucleic Acids. 2008
PubMed ID: 18600506
-
Radiation-induced HPRT mutations resulting from misrejoined DNA double-strand breaks.
Rothkamm K, Gunasekara K, Warda SA, Krempler A, Löbrich M
Radiat Res. 2008
PubMed ID: 18494542
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Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.
Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA
Nat Genet. 2008
PubMed ID: 18469815
-
Normal HPRT coding region in complete and partial HPRT deficiency.
García MG, Torres RJ, Prior C, Puig JG
Mol Genet Metab. 2008
PubMed ID: 18316217
-
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
Blewitt ME, Gendrel AV, Pang Z, Sparrow DB, Whitelaw N, Craig JM, Apedaile A, Hilton DJ, Dunwoodie SL, Brockdorff N, Kay GF, Whitelaw E
Nat Genet. 2008
PubMed ID: 18425126
-
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
Peng M, Falk MJ, Haase VH, King R, Polyak E, Selak M, Yudkoff M, Hancock WW, Meade R, Saiki R, Lunceford AL, Clarke CF, L Gasser D
PLoS Genet. 2008
PubMed ID: 18437205
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[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)]
Yamada Y
Nippon Rinsho. 2008
PubMed ID: 18409516
-
Temporally controlled prostate epithelium-specific gene alterations.
Luchman HA, Friedman HC, Villemaire ML, Peterson AC, Jirik FR
Genesis. 2008
PubMed ID: 18395839
-
Consequences of impaired purine recycling in dopaminergic neurons.
Lewers JC, Ceballos-Picot I, Shirley TL, Mockel L, Egami K, Jinnah HA
Neuroscience. 2008
PubMed ID: 18313225
-
Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia.
Prosser HM, Rzadzinska AK, Steel KP, Bradley A
Mol Cell Biol. 2008
PubMed ID: 18160714
-
Toward a confocal subcellular atlas of the human proteome.
Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H
Mol Cell Proteomics. 2008
PubMed ID: 18029348
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HPRT mutations in lymphocytes from 1,3-butadiene-exposed workers in China.
Liu S, Ao L, Du B, Zhou Y, Yuan J, Bai Y, Zhou Z, Cao J
Environ Health Perspect. 2008
PubMed ID: 18288319
-
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Wong H, Feber J, Chakraborty P, Drukker A, Filler G
Pediatr Nephrol. 2008
PubMed ID: 17934765
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The pace of prostatic intraepithelial neoplasia development is determined by the timing of Pten tumor suppressor gene excision.
Luchman HA, Benediktsson H, Villemaire ML, Peterson AC, Jirik FR
PLoS ONE. 2008
PubMed ID: 19081794
-
Eomesodermin, a target gene of Pou4f2, is required for retinal ganglion cell and optic nerve development in the mouse.
Mao CA, Kiyama T, Pan P, Furuta Y, Hadjantonakis AK, Klein WH
Development. 2008
PubMed ID: 18077589
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Temporal-spatial ablation of neural crest in the mouse results in cardiovascular defects.
Porras D, Brown CB
Dev Dyn. 2008
PubMed ID: 18058916
-
Hypoxia promotes fibrogenesis in vivo via HIF-1 stimulation of epithelial-to-mesenchymal transition.
Higgins DF, Kimura K, Bernhardt WM, Shrimanker N, Akai Y, Hohenstein B, Saito Y, Johnson RS, Kretzler M, Cohen CD, Eckardt KU, Iwano M, Haase VH
J Clin Invest. 2007
PubMed ID: 18037992
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In vivo characterization of human APOA5 haplotypes.
Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA
Genomics. 2007
PubMed ID: 17936576
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A global double-fluorescent Cre reporter mouse.
Muzumdar MD, Tasic B, Miyamichi K, Li L, Luo L
Genesis. 2007
PubMed ID: 17868096
-
The L84F polymorphism in the O6-Methylguanine-DNA-Methyltransferase (MGMT) gene is associated with increased hypoxanthine phosphoribosyltransferase (HPRT) mutant frequency in lymphocytes of tobacco smokers.
Hill CE, Wickliffe JK, Guerin AT, Kinslow CJ, Wolfe KJ, Ammenheuser MM, Abdel-Rahman SZ
Pharmacogenet Genomics. 2007
PubMed ID: 17700363
-
Sequential evaluation of thiopurine methyltransferase, inosine triphosphate pyrophosphatase, and HPRT1 genes polymorphisms to explain thiopurines' toxicity and efficacy.
Palmieri O, Latiano A, Bossa F, Vecchi M, D'Incà R, Guagnozzi D, Tonelli F, Cucchiara S, Valvano MR, Latiano T, Andriulli A, Annese V
Aliment Pharmacol Ther. 2007
PubMed ID: 17697207
-
Cloning and characterization of a novel MyoD enhancer-binding factor.
Yamamoto M, Watt CD, Schmidt RJ, Kuscuoglu U, Miesfeld RL, Goldhamer DJ
Mech Dev. 2007
PubMed ID: 17693064
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[Quantifying gene expression in prostate carcinoma. Which endogenous reference genes are suitable?]
Jung M, Ohl F, Stephan C, Rabien A, Kristiansen G, Radonić A, Loening SA, Jung K
Urologe A. 2007
PubMed ID: 17628775
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Tissue-specific aberrations of gene expression in HPRT-deficient mice: functional complexity in a monogenic disease?
Song S, Friedmann T
Mol Ther. 2007
PubMed ID: 17505472
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Toward simpler and faster genome-wide mutagenesis in mice.
Wu S, Ying G, Wu Q, Capecchi MR
Nat Genet. 2007
PubMed ID: 17572674
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A three-kilobase fragment of the human Robo4 promoter directs cell type-specific expression in endothelium.
Okada Y, Yano K, Jin E, Funahashi N, Kitayama M, Doi T, Spokes K, Beeler DL, Shih SC, Okada H, Danilov TA, Maynard E, Minami T, Oettgen P, Aird WC
Circ Res. 2007
PubMed ID: 17495228
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The mouse polyubiquitin gene UbC is essential for fetal liver development, cell-cycle progression and stress tolerance.
Ryu KY, Maehr R, Gilchrist CA, Long MA, Bouley DM, Mueller B, Ploegh HL, Kopito RR
EMBO J. 2007
PubMed ID: 17491588
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Gnotobiotic IL-10-/-;NF-kappa B(EGFP) mice reveal the critical role of TLR/NF-kappa B signaling in commensal bacteria-induced colitis.
Karrasch T, Kim JS, Muhlbauer M, Magness ST, Jobin C
J Immunol. 2007
PubMed ID: 17475882
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Basal ganglia dopamine loss due to defect in purine recycling.
Egami K, Yitta S, Kasim S, Lewers JC, Roberts RC, Lehar M, Jinnah HA
Neurobiol Dis. 2007
PubMed ID: 17374562
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Requirement of bic/microRNA-155 for normal immune function.
Rodriguez A, Vigorito E, Clare S, Warren MV, Couttet P, Soond DR, van Dongen S, Grocock RJ, Das PP, Miska EA, Vetrie D, Okkenhaug K, Enright AJ, Dougan G, Turner M, Bradley A
Science. 2007
PubMed ID: 17463290
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A conditional mouse model of synovial sarcoma: insights into a myogenic origin.
Haldar M, Hancock JD, Coffin CM, Lessnick SL, Capecchi MR
Cancer Cell. 2007
PubMed ID: 17418413
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Hypoxia-inducible factor-2 (HIF-2) regulates hepatic erythropoietin in vivo.
Rankin EB, Biju MP, Liu Q, Unger TL, Rha J, Johnson RS, Simon MC, Keith B, Haase VH
J Clin Invest. 2007
PubMed ID: 17404621
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Maternal microRNAs are essential for mouse zygotic development.
Tang F, Kaneda M, O'Carroll D, Hajkova P, Barton SC, Sun YA, Lee C, Tarakhovsky A, Lao K, Surani MA
Genes Dev. 2007
PubMed ID: 17369397
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Modeling sporadic loss of heterozygosity in mice by using mosaic analysis with double markers (MADM).
Muzumdar MD, Luo L, Zong H
Proc Natl Acad Sci U S A. 2007
PubMed ID: 17360552
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Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Laróvere LE, O'Neill JP, Randall M, Fairbanks LD, Guelbert N, Czornyj L, de Kremer RD
Nucleosides Nucleotides Nucleic Acids. 2007
PubMed ID: 17454734
-
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
McMahon A, Butovich IA, Mata NL, Klein M, Ritter R, Richardson J, Birch DG, Edwards AO, Kedzierski W
Mol Vis. 2007
PubMed ID: 17356513
-
Large-scale mapping of human protein-protein interactions by mass spectrometry.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D
Mol Syst Biol. 2007
PubMed ID: 17353931
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Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
Yamada Y, Nomura N, Yamada K, Wakamatsu N
Mol Genet Metab. 2007
PubMed ID: 17027311
-
Gene duplication and inactivation in the HPRT gene family.
Keebaugh AC, Sullivan RT, NISC Comparative Sequencing Program, Thomas JW
Genomics. 2007
PubMed ID: 16928426
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A mouse model for monitoring calpain activity under physiological and pathological conditions.
Bartoli M, Bourg N, Stockholm D, Raynaud F, Delevacque A, Han Y, Borel P, Seddik K, Armande N, Richard I
J Biol Chem. 2006
PubMed ID: 17056592
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Transgenic mice expressing the p75 CCAAT-displacement protein/Cut homeobox isoform develop a myeloproliferative disease-like myeloid leukemia.
Cadieux C, Fournier S, Peterson AC, Bédard C, Bedell BJ, Nepveu A
Cancer Res. 2006
PubMed ID: 17018605
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Hematopoietic precursor cells transiently reestablish permissiveness for X inactivation.
Savarese F, Flahndorfer K, Jaenisch R, Busslinger M, Wutz A
Mol Cell Biol. 2006
PubMed ID: 16980619
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Analysis of genetic alterations and clonal proliferation in children treated for acute lymphocytic leukemia.
Kendall HE, Vacek PM, Rivers JL, Rice SC, Messier TL, Finette BA
Cancer Res. 2006
PubMed ID: 16951156
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The neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1 mice.
Ismat FA, Xu J, Lu MM, Epstein JA
J Clin Invest. 2006
PubMed ID: 16906226
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Suppression of Fas-FasL coexpression by erythropoietin mediates erythroblast expansion during the erythropoietic stress response in vivo.
Liu Y, Pop R, Sadegh C, Brugnara C, Haase VH, Socolovsky M
Blood. 2006
PubMed ID: 16527892
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A DNA insulator prevents repression of a targeted X-linked transgene but not its random or imprinted X inactivation.
Ciavatta D, Kalantry S, Magnuson T, Smithies O
Proc Natl Acad Sci U S A. 2006
PubMed ID: 16777957
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Pituitary-specific Gata2 knockout: effects on gonadotrope and thyrotrope function.
Charles MA, Saunders TL, Wood WM, Owens K, Parlow AF, Camper SA, Ridgway EC, Gordon DF
Mol Endocrinol. 2006
PubMed ID: 16543408
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The Polycomb group protein EED is dispensable for the initiation of random X-chromosome inactivation.
Kalantry S, Magnuson T
PLoS Genet. 2006
PubMed ID: 16680199
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Distributions of five common point mutants in the human tracheal-bronchial epithelium.
Sudo H, Li-Sucholeiki XC, Marcelino LA, Gruhl AN, Zarbl H, Willey JC, Thilly WG
Mutat Res. 2006
PubMed ID: 16458330
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BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Magdaleno S, Jensen P, Brumwell CL, Seal A, Lehman K, Asbury A, Cheung T, Cornelius T, Batten DM, Eden C, Norland SM, Rice DS, Dosooye N, Shakya S, Mehta P, Curran T
PLoS Biol. 2006
PubMed ID: 16602821
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Pseudogenes of the human HPRT1 gene.
Nicklas JA
Environ Mol Mutagen. 2006
PubMed ID: 16355393
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Frequency and types of spontaneous Hprt lymphocyte mutations in Pms2-deficient mice.
Shaddock JG, Dobrovolsky VN, Mittelstaedt RA, Heflich RH, Parsons BL
Mutat Res. 2006
PubMed ID: 16336979
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Renal cyst development in mice with conditional inactivation of the von Hippel-Lindau tumor suppressor.
Rankin EB, Tomaszewski JE, Haase VH
Cancer Res. 2006
PubMed ID: 16510575
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Expression of Pitx2 in stromal cells is required for normal hematopoiesis.
Kieusseian A, Chagraoui J, Kerdudo C, Mangeot PE, Gage PJ, Navarro N, Izac B, Uzan G, Forget BG, Dubart-Kupperschmitt A
Blood. 2006
PubMed ID: 16195330
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HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
Cossu A, Orrù S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V
Biochim Biophys Acta. 2006
PubMed ID: 16216473
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Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.
Cherian S, Crompton CH
Pediatr Nephrol. 2005
PubMed ID: 16240158
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Large-scale analysis of the human ubiquitin-related proteome.
Matsumoto M, Hatakeyama S, Oyamada K, Oda Y, Nishimura T, Nakayama KI
Proteomics. 2005
PubMed ID: 16196087
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A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
Mikolaenko I, Rao LM, Roberts RC, Kolb B, Jinnah HA
Neurobiol Dis. 2005
PubMed ID: 15908225
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Towards a proteome-scale map of the human protein-protein interaction network.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M
Nature. 2005
PubMed ID: 16189514
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Lymphocyte Hprt mutant frequency and sperm toxicity in C57BL/6 mice treated chronically with Azathioprine.
Bendre SV, Shaddock JG, Patton RE, Dobrovolsky VN, Albertini RJ, Heflich RH
Mutat Res. 2005
PubMed ID: 16107271
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Self-mutilation behaviour in Lesch-Nyhan syndrome.
Cauwels RG, Martens LC
J Oral Pathol Med. 2005
PubMed ID: 16138897
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Effects of CAG repeat length, HTT protein length and protein context on cerebral metabolism measured using magnetic resonance spectroscopy in transgenic mouse models of Huntington's disease.
Jenkins BG, Andreassen OA, Dedeoglu A, Leavitt B, Hayden M, Borchelt D, Ross CA, Ferrante RJ, Beal MF
J Neurochem. 2005
PubMed ID: 16135087
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Antisense transcription in the mammalian transcriptome.
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C, RIKEN Genome Exploration Research Group, Genome Science Group (Genome Network Project Core Group), FANTOM Consortium
Science. 2005
PubMed ID: 16141073
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The transcriptional landscape of the mammalian genome.
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schönbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group)
Science. 2005
PubMed ID: 16141072
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The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle.
Keough DT, Brereton IM, de Jersey J, Guddat LW
J Mol Biol. 2005
PubMed ID: 15990111
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An inactive X specific replication origin associated with a matrix attachment region in the human X linked HPRT gene.
Koina E, Piper A
J Cell Biochem. 2005
PubMed ID: 15779006
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Efficiency of RNA interference in the mouse hematopoietic system varies between cell types and developmental stages.
Oberdoerffer P, Kanellopoulou C, Heissmeyer V, Paeper C, Borowski C, Aifantis I, Rao A, Rajewsky K
Mol Cell Biol. 2005
PubMed ID: 15870264
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Normal HPRT coding region in a male with gout due to HPRT deficiency.
Dawson PA, Gordon RB, Keough DT, Emmerson BT
Mol Genet Metab. 2005
PubMed ID: 15862284
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Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP
Mol Genet Metab. 2005
PubMed ID: 15862283
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Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templates.
Greber B, Tandara H, Lehrach H, Himmelbauer H
Hum Mutat. 2005
PubMed ID: 15832303
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The DNA sequence of the human X chromosome.
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glöckner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Müller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR
Nature. 2005
PubMed ID: 15772651
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Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1.
Isono K, Mizutani-Koseki Y, Komori T, Schmidt-Zachmann MS, Koseki H
Genes Dev. 2005
PubMed ID: 15741318
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Qualitatively and quantitatively similar effects of active and passive maternal tobacco smoke exposure on in utero mutagenesis at the HPRT locus.
Grant SG
BMC Pediatr. 2005
PubMed ID: 15987524
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Studies on the HPRT mutant frequency in T lymphocytes from healthy Indian male population as a function of age and smoking.
Kumar PR, Hamza VZ, Mohankumar MN, Jeevanram RK
Mutat Res. 2004
PubMed ID: 15491638
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Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.
Mizunuma M, Yamada Y, Yamada K, Sonta S, Wakamatsu N, Kaneko K, Ogasawara N, Fujimori S
Nucleosides Nucleotides Nucleic Acids. 2004
PubMed ID: 15571224
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Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N
Nucleosides Nucleotides Nucleic Acids. 2004
PubMed ID: 15571223
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Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
Zoref-Shani E, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O
Nucleosides Nucleotides Nucleic Acids. 2004
PubMed ID: 15571222
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The spectrum of mutations causing HPRT deficiency: an update.
Jinnah HA, Harris JC, Nyhan WL, O'Neill JP
Nucleosides Nucleotides Nucleic Acids. 2004
PubMed ID: 15571220
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
Genome Res. 2004
PubMed ID: 15489334
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A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient mice.
Le TH, Oliverio MI, Kim HS, Salzler H, Dash RC, Howell DN, Smithies O, Bronson S, Coffman TM
Physiol Genomics. 2004
PubMed ID: 15306694
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In vivo pattern of lipopolysaccharide and anti-CD3-induced NF-kappa B activation using a novel gene-targeted enhanced GFP reporter gene mouse.
Magness ST, Jijon H, Van Houten Fisher N, Sharpless NE, Brenner DA, Jobin C
J Immunol. 2004
PubMed ID: 15265883
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Restriction of BMP4 activity domains in the developing neural tube of the mouse embryo.
Hu Q, Ueno N, Behringer RR
EMBO Rep. 2004
PubMed ID: 15218525
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A non-active site mutation in human hypoxanthine guanine phosphoribosyltransferase expands substrate specificity.
Raman J, Sumathy K, Anand RP, Balaram H
Arch Biochem Biophys. 2004
PubMed ID: 15178494
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Cardiac-specific overexpression of sarcolipin inhibits sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA2a) activity and impairs cardiac function in mice.
Asahi M, Otsu K, Nakayama H, Hikoso S, Takeda T, Gramolini AO, Trivieri MG, Oudit GY, Morita T, Kusakari Y, Hirano S, Hongo K, Hirotani S, Yamaguchi O, Peterson A, Backx PH, Kurihara S, Hori M, MacLennan DH
Proc Natl Acad Sci U S A. 2004
PubMed ID: 15201433
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Tissue-specific expression of a BAC transgene targeted to the Hprt locus in mouse embryonic stem cells.
Heaney JD, Rettew AN, Bronson SK
Genomics. 2004
PubMed ID: 15177560
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Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J, Nilsson L, Lambert B
Hum Mutat. 2004
PubMed ID: 15146465
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, Dugan-Rocha S, Miner G, Morgan M, Hawes A, Gill R, Celera, Holt RA, Adams MD, Amanatides PG, Baden-Tillson H, Barnstead M, Chin S, Evans CA, Ferriera S, Fosler C, Glodek A, Gu Z, Jennings D, Kraft CL, Nguyen T, Pfannkoch CM, Sitter C, Sutton GG, Venter JC, Woodage T, Smith D, Lee HM, Gustafson E, Cahill P, Kana A, Doucette-Stamm L, Weinstock K, Fechtel K, Weiss RB, Dunn DM, Green ED, Blakesley RW, Bouffard GG, De Jong PJ, Osoegawa K, Zhu B, Marra M, Schein J, Bosdet I, Fjell C, Jones S, Krzywinski M, Mathewson C, Siddiqui A, Wye N, McPherson J, Zhao S, Fraser CM, Shetty J, Shatsman S, Geer K, Chen Y, Abramzon S, Nierman WC, Havlak PH, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Li B, Liu Y, Qin X, Cawley S, Worley KC, Cooney AJ, D'Souza LM, Martin K, Wu JQ, Gonzalez-Garay ML, Jackson AR, Kalafus KJ, McLeod MP, Milosavljevic A, Virk D, Volkov A, Wheeler DA, Zhang Z, Bailey JA, Eichler EE, Tuzun E, Birney E, Mongin E, Ureta-Vidal A, Woodwark C, Zdobnov E, Bork P, Suyama M, Torrents D, Alexandersson M, Trask BJ, Young JM, Huang H, Wang H, Xing H, Daniels S, Gietzen D, Schmidt J, Stevens K, Vitt U, Wingrove J, Camara F, Mar Albà M, Abril JF, Guigo R, Smit A, Dubchak I, Rubin EM, Couronne O, Poliakov A, Hübner N, Ganten D, Goesele C, Hummel O, Kreitler T, Lee YA, Monti J, Schulz H, Zimdahl H, Himmelbauer H, Lehrach H, Jacob HJ, Bromberg S, Gullings-Handley J, Jensen-Seaman MI, Kwitek AE, Lazar J, Pasko D, Tonellato PJ, Twigger S, Ponting CP, Duarte JM, Rice S, Goodstadt L, Beatson SA, Emes RD, Winter EE, Webber C, Brandt P, Nyakatura G, Adetobi M, Chiaromonte F, Elnitski L, Eswara P, Hardison RC, Hou M, Kolbe D, Makova K, Miller W, Nekrutenko A, Riemer C, Schwartz S, Taylor J, Yang S, Zhang Y, Lindpaintner K, Andrews TD, Caccamo M, Clamp M, Clarke L, Curwen V, Durbin R, Eyras E, Searle SM, Cooper GM, Batzoglou S, Brudno M, Sidow A, Stone EA, Venter JC, Payseur BA, Bourque G, López-Otín C, Puente XS, Chakrabarti K, Chatterji S, Dewey C, Pachter L, Bray N, Yap VB, Caspi A, Tesler G, Pevzner PA, Haussler D, Roskin KM, Baertsch R, Clawson H, Furey TS, Hinrichs AS, Karolchik D, Kent WJ, Rosenbloom KR, Trumbower H, Weirauch M, Cooper DN, Stenson PD, Ma B, Brent M, Arumugam M, Shteynberg D, Copley RR, Taylor MS, Riethman H, Mudunuri U, Peterson J, Guyer M, Felsenfeld A, Old S, Mockrin S, Collins F, Rat Genome Sequencing Project Consortium
Nature. 2004
PubMed ID: 15057822
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Analysis of mutations and bone marrow micronuclei in Big Blue rats fed leucomalachite green.
Manjanatha MG, Shelton SD, Bishop M, Shaddock JG, Dobrovolsky VN, Heflich RH, Webb PJ, Blankenship LR, Beland FA, Greenlees KJ, Culp SJ
Mutat Res. 2004
PubMed ID: 15013694
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Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1.
Yabuta T, Shinmura K, Yamane A, Yamaguchi S, Takenoshita S, Yokota J
Int J Oncol. 2004
PubMed ID: 14767555
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A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?
Skandalis A, Uribe E
Nucleic Acids Res. 2004
PubMed ID: 15601998
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Bigenic Cre/loxP, puDeltatk conditional genetic ablation.
Chen YT, Levasseur R, Vaishnav S, Karsenty G, Bradley A
Nucleic Acids Res. 2004
PubMed ID: 15561996
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Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Urbach A, Schuldiner M, Benvenisty N
Stem Cells. 2004
PubMed ID: 15277709
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Differences in HPRT mutant frequency among middle-aged Flemish women in association with area of residence and blood lead levels.
Van Larebeke N, Koppen G, Nelen V, Schoeters G, Van Loon H, Albering H, Riga L, Vlietinck R, Kleinjans J, Flemish Environment and Health Study Group
Biomarkers. 2004
PubMed ID: 15204312
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Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S
Nat Genet. 2004
PubMed ID: 14702039
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Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT
Proc Natl Acad Sci U S A. 2003
PubMed ID: 14610273
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Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport.
Reuter TY, Medhurst AL, Waisfisz Q, Zhi Y, Herterich S, Hoehn H, Gross HJ, Joenje H, Hoatlin ME, Mathew CG, Huber PA
Exp Cell Res. 2003
PubMed ID: 14499622
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Targeted disruption of the inosine 5'-monophosphate dehydrogenase type I gene in mice.
Gu JJ, Tolin AK, Jain J, Huang H, Santiago L, Mitchell BS
Mol Cell Biol. 2003
PubMed ID: 12944494
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Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context.
Jackson WS, Tallaksen-Greene SJ, Albin RL, Detloff PJ
Hum Mol Genet. 2003
PubMed ID: 12812988
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Effect of caloric restriction on Hprt lymphocyte mutation in aging rats.
Aidoo A, Mittelstaedt RA, Bishop ME, Lyn-Cook LE, Chen YJ, Duffy P, Heflich RH
Mutat Res. 2003
PubMed ID: 12787914
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Same origins of DNA replication function on the active and inactive human X chromosomes.
Cohen SM, Brylawski BP, Cordeiro-Stone M, Kaufman DG
J Cell Biochem. 2003
PubMed ID: 12616531
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Far-upstream elements are dispensable for tissue-specific proenkephalin expression using a Cre-mediated knock-in strategy.
Le Y, Gagneten S, Larson T, Santha E, Dobi A, v Agoston D, Sauer B
J Neurochem. 2003
PubMed ID: 12562513
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Comparative analysis of HPRT mutant frequency in children with cancer.
Rice SC, Vacek PM, Homans AH, Kendall H, Rivers J, Messier T, Finette BA
Environ Mol Mutagen. 2003
PubMed ID: 12874812
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA, Mammalian Gene Collection Program Team
Proc Natl Acad Sci U S A. 2002
PubMed ID: 12477932
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Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
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Cancer Epidemiol Biomarkers Prev. 2002
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Stage-specific expression of genes associated with rat spermatogenesis: characterization by laser-capture microdissection and real-time polymerase chain reaction.
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Mutational spectral analysis at the HPRT locus in healthy children.
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A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvImJ.
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Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
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High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.
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A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
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Protein-protein interaction panel using mouse full-length cDNAs.
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Decelerated rate of dendrite outgrowth from dopaminergic neurons in primary cultures from brains of hypoxanthine phosphoribosyltransferase-deficient knockout mice.
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Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.
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RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
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Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
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Genome Res. 2000
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A new positive/negative selectable marker, puDeltatk, for use in embryonic stem cells.
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Genesis. 2000
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Inhibition of T lymphocyte activation in mice heterozygous for loss of the IMPDH II gene.
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J Clin Invest. 2000
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Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray.
Tanaka TS, Jaradat SA, Lim MK, Kargul GJ, Wang X, Grahovac MJ, Pantano S, Sano Y, Piao Y, Nagaraja R, Doi H, Wood WH, Becker KG, Ko MS
Proc Natl Acad Sci U S A. 2000
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Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
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Development. 2000
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Targeting of human eNOS promoter to the Hprt locus of mice leads to tissue-restricted transgene expression.
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Physiol Genomics. 2000
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Targeting the Hprt locus in mice reveals differential regulation of Tie2 gene expression in the endothelium.
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Physiol Genomics. 2000
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Appropriate tissue- and cell-specific expression of a single copy human angiotensinogen transgene specifically targeted upstream of the HPRT locus by homologous recombination.
Cvetkovic B, Yang B, Williamson RA, Sigmund CD
J Biol Chem. 2000
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Temporal, spatial and tissue-specific expression of a myogenin-lacZ transgene targeted to the Hprt locus in mice.
Vivian JL, Klein WH, Hasty P
Biotechniques. 1999
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The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.
Shi W, Li CM, Tyler PC, Furneaux RH, Grubmeyer C, Schramm VL, Almo SC
Nat Struct Biol. 1999
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A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice.
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Nucleic Acids Res. 1999
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Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding.
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Protein Sci. 1999
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Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice.
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J Neurochem. 1999
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The influence of chromosomal location on the expression of two transgenes in mice.
Hatada S, Kuziel W, Smithies O, Maeda N
J Biol Chem. 1999
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Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
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J Neurochem. 1999
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Molecular analysis of in vivo mutations induced by N-ethyl-N-nitrosourea in the autosomal Tk and the X-linked Hprt genes of mouse lymphocytes.
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Environ Mol Mutagen. 1999
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High-efficiency full-length cDNA cloning.
Carninci P, Hayashizaki Y
Methods Enzymol. 1999
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Pgk1 and Hprt gene activity in the peri-implantation mouse embryo is influenced by the parental origin of the X-chromosome.
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Int J Dev Biol. 1999
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Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
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Eur J Clin Invest. 1998
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DNA sequence flanking the protein coding regions of the rat Hprt gene.
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Mutat Res. 1998
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Catalysis in human hypoxanthine-guanine phosphoribosyltransferase: Asp 137 acts as a general acid/base.
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Biochemistry. 1998
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The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
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Hum Mutat. 1998
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Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse.
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Cell. 1997
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Patterns of DNA variability at X-linked loci in Mus domesticus.
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Genetics. 1997
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Inactivation of the mouse HPRT locus by a 203-bp retroposon insertion and a 55-kb gene-targeted deletion: establishment of new HPRT-deficient mouse embryonic stem cell lines.
Tsuda H, Maynard-Currie CE, Reid LH, Yoshida T, Edamura K, Maeda N, Smithies O, Jakobovits A
Genomics. 1997
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An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans.
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Hum Genet. 1997
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HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
Engle SJ, Womer DE, Davies PM, Boivin G, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA
Hum Mol Genet. 1996
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Proliferation of multipotent hematopoietic cells controlled by a truncated erythropoietin receptor transgene.
Kirby SL, Cook DN, Walton W, Smithies O
Proc Natl Acad Sci U S A. 1996
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Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene.
Carrel L, Hunt PA, Willard HF
Hum Mol Genet. 1996
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Hypoxanthine-guanine phosphoribosyltransferase (HPRT) expression in the central nervous system of HPRT-deficient mice following adenoviral-mediated gene transfer.
Plumb TJ, Bosch A, Roessler BJ, Shewach DS, Davidson BL
Neurosci Lett. 1996
PubMed ID: 8878108
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Single-copy transgenic mice with chosen-site integration.
Bronson SK, Plaehn EG, Kluckman KD, Hagaman JR, Maeda N, Smithies O
Proc Natl Acad Sci U S A. 1996
PubMed ID: 8799155
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The use of compound heterozygotes and Hprt selection to analyze X-linked mottled alleles associated with prenatal lethality.
Masson W, Holt S, Reed V, Boyd Y
Mamm Genome. 1996
PubMed ID: 8672124
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Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.
Wong DF, Harris JC, Naidu S, Yokoi F, Marenco S, Dannals RF, Ravert HT, Yaster M, Evans A, Rousset O, Bryan RN, Gjedde A, Kuhar MJ, Breese GR
Proc Natl Acad Sci U S A. 1996
PubMed ID: 8643611
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Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene.
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Mol Cell Biol. 1995
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Essential functions of synapsins I and II in synaptic vesicle regulation.
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Nature. 1995
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Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF.
Perkins AC, Sharpe AH, Orkin SH
Nature. 1995
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Analysis of in vivo mutation induced by N-ethyl-N-nitrosourea in the hprt gene of rat lymphocytes.
Mittelstaedt RA, Smith BA, Heflich RH
Environ Mol Mutagen. 1995
PubMed ID: 8575415
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Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.
Burgemeister R, Rötzer E, Gutensohn W, Gehrke M, Schiel W
Hum Mutat. 1995
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CpG island promoter region methylation patterns of the inactive-X-chromosome hypoxanthine phosphoribosyltransferase (Hprt) gene.
Park JG, Chapman VM
Mol Cell Biol. 1994
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Identification and genetic mapping of 151 dispersed members of 16 ribosomal protein multigene families in the mouse.
Johnson KR, Cook SA, Davisson MT
Mamm Genome. 1994
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Analysis of in vivo mutation in exon 8 of the rat hprt gene.
Mittelstaedt RA, Heflich RH
Mutat Res. 1994
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The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.
Eads JC, Scapin G, Xu Y, Grubmeyer C, Sacchettini JC
Cell. 1994
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Mosaic expression of an Hprt transgene integrated in a region of Y heterochromatin.
Pravtcheva DD, Wise TL, Ensor NJ, Ruddle FH
J Exp Zool. 1994
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Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
Jinnah HA, Wojcik BE, Hunt M, Narang N, Lee KY, Goldstein M, Wamsley JK, Langlais PJ, Friedmann T
J Neurosci. 1994
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New insights into the man-mouse comparative map of the X chromosome.
Blair HJ, Reed V, Laval SH, Boyd Y
Genomics. 1994
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Brain purines in a genetic mouse model of Lesch-Nyhan disease.
Jinnah HA, Page T, Friedmann T
J Neurochem. 1993
PubMed ID: 8492116
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Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Wu CL, Melton DW
Nat Genet. 1993
PubMed ID: 8485579
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Novel sequences conserved on the human and mouse X chromosomes.
Laval SH, Boyd Y
Genomics. 1993
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Postnatal expression of hypoxanthine guanine phosphoribosyltransferase in the mouse brain.
Ikeda K, Iida T, Nakagawa S
Enzyme Protein. 1993
PubMed ID: 8193672
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A position- and orientation-dependent element in the first intron is required for expression of the mouse hprt gene in embryonic stem cells.
Magin TM, McEwan C, Milne M, Pow AM, Selfridge J, Melton DW
Gene. 1992
PubMed ID: 1487143
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A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Sculley DG, Dawson PA, Emmerson BT, Gordon RB
Hum Genet. 1992
PubMed ID: 1487231
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Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.
Jinnah HA, Langlais PJ, Friedmann T
J Pharmacol Exp Ther. 1992
PubMed ID: 1432691
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Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
Sege-Peterson K, Chambers J, Page T, Jones OW, Nyhan WL
Hum Mol Genet. 1992
PubMed ID: 1301916
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Imprinting of phosphoribosyltransferases during preimplantation development of the mouse mutant, Hprtb-m3.
Moore TF, Whittingham DG
Development. 1992
PubMed ID: 1451655
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The gene encoding hypoxanthine-guanine phosphoribosyltransferase as target for mutational analysis: PCR cloning and sequencing of the cDNA from the rat.
Jansen JG, Vrieling H, van Zeeland AA, Mohn GR
Mutat Res. 1992
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The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
Lightfoot T, Joshi R, Nuki G, Snyder FF
Hum Genet. 1992
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Mouse models of hypoxanthine phosphoribosyltransferase deficiency.
Williamson DJ, Hooper ML, Melton DW
J Inherit Metab Dis. 1992
PubMed ID: 1528024
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Rat hypoxanthine phosphoribosyltransferase cDNA cloning and sequence analysis.
Chiaverotti TA, Battula N, Monnat RJ
Genomics. 1991
PubMed ID: 1783384
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Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome.
Jinnah HA, Gage FH, Friedmann T
Behav Neurosci. 1991
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Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
Sculley DG, Dawson PA, Beacham IR, Emmerson BT, Gordon RB
Hum Genet. 1991
PubMed ID: 1937471
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Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
Tarlé SA, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD
Genomics. 1991
PubMed ID: 2071157
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Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Davidson BL, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD
Am J Hum Genet. 1991
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Identification of two independent Japanese mutant HPRT genes using the PCR technique.
Yamada Y, Goto H, Ogasawara N
Adv Exp Med Biol. 1991
PubMed ID: 1840476
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Rat hypoxanthine phosphoribosyltransferase cDNA cloning and sequence analysis.
Chiaverotti TA, Battula N, Monnat RJ
Adv Exp Med Biol. 1991
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Animal models of Lesch-Nyhan syndrome.
Jinnah HA, Gage FH, Friedmann T
Brain Res Bull. 1990
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Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.
Skopek TR, Recio L, Simpson D, Dallaire L, Melancon SB, Ogier H, O'Neill JP, Falta MT, Nicklas JA, Albertini RJ
Hum Genet. 1990
PubMed ID: 2358296
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Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT
Genomics. 1990
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Increased de novo purine synthesis by insulin through selective enzyme induction in primary cultured rat hepatocytes.
Tsuchiya M, Yoshikawa H, Itakura M, Yamashita K
Am J Physiol. 1990
PubMed ID: 2185659
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Automated DNA sequencing of the human HPRT locus.
Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, Zimmermann J, Erfle H, Caskey CT, Ansorge W
Genomics. 1990
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Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
Gordon RB, Sculley DG, Dawson PA, Beacham IR, Emmerson BT
J Inherit Metab Dis. 1990
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Molecular analysis of a female Lesch-Nyhan patient.
Ogasawara N, Stout JT, Goto H, Sonta S, Matsumoto A, Caskey CT
J Clin Invest. 1989
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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
Davidson BL, Tarlé SA, Palella TD, Kelley WN
J Clin Invest. 1989
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Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
Igarashi T, Minami M, Nishida Y
Acta Paediatr Jpn. 1989
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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT
Proc Natl Acad Sci U S A. 1989
PubMed ID: 2928313
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Germ line transmission and expression of a corrected HPRT gene produced by gene targeting in embryonic stem cells.
Thompson S, Clarke AR, Pow AM, Hooper ML, Melton DW
Cell. 1989
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Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
Davidson BL, Pashmforoush M, Kelley WN, Palella TD
J Biol Chem. 1989
PubMed ID: 2909537
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Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Fujimori S, Davidson BL, Kelley WN, Palella TD
J Clin Invest. 1989
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Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
Davidson BL, Chin SJ, Wilson JM, Kelley WN, Palella TD
J Clin Invest. 1988
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Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome.
Finger S, Heavens RP, Sirinathsinghji DJ, Kuehn MR, Dunnett SB
J Neurol Sci. 1988
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Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).
Davidson BL, Palella TD, Kelley WN
Gene. 1988
PubMed ID: 3265398
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Altered turnover of allelic variants of hypoxanthine phosphoribosyltransferase is associated with N-terminal amino acid sequence variation.
Johnson GG, Kronert WA, Bernstein SI, Chapman VM, Smith KD
J Biol Chem. 1988
PubMed ID: 3379061
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Characterization, evolutionary relationships, and chromosome location of processed mouse HPRT pseudogene.
Isamat M, Macleod KF, King A, McEwan C, Melton DW
Somat Cell Mol Genet. 1988
PubMed ID: 2899912
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Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
Cariello NF, Scott JK, Kat AG, Thilly WG, Keohavong P
Am J Hum Genet. 1988
PubMed ID: 3358423
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Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
Fujimori S, Hidaka Y, Davidson BL, Palella TD, Kelley WN
Hum Genet. 1988
PubMed ID: 2896620
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Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.
Yang TP, Stout JT, Konecki DS, Patel PI, Alford RL, Caskey CT
Somat Cell Mol Genet. 1988
PubMed ID: 2835825
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Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
Davidson BL, Pashmforoush M, Kelley WN, Palella TD
Gene. 1988
PubMed ID: 3384338
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Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families.
Keough DT, Gordon RB, de Jersey J, Emmerson BT
J Inherit Metab Dis. 1988
PubMed ID: 3148064
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Insulin regulatory effects on purine- and pyrimidine metabolism in alloxan diabetic rat liver.
Pillwein K, Reardon MA, Jayaram HN, Natsumeda Y, Elliott WL, Faderan MA, Prajda N, Sperl W, Weber G
Padiatr Padol. 1988
PubMed ID: 3043317
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Characterisation of cDNA clones for hypoxanthine-guanine phosphoribosyltransferase from the human malarial parasite, Plasmodium falciparum: comparisons to the mammalian gene and protein.
King A, Melton DW
Nucleic Acids Res. 1987
PubMed ID: 3320967
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HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
Hooper M, Hardy K, Handyside A, Hunter S, Monk M
Nature. 1987
PubMed ID: 3821905
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A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.
Kuehn MR, Bradley A, Robertson EJ, Evans MJ
Nature. 1987
PubMed ID: 3029599
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Localization of the Hprt locus by in situ hybridization and distribution of loci on the mouse X-chromosome.
Lyon MF, Zenthon J, Burtenshaw MD, Evans EP
Cytogenet Cell Genet. 1987
PubMed ID: 3471389
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The organization of the human HPRT gene.
Kim SH, Moores JC, David D, Respess JG, Jolly DJ, Friedmann T
Nucleic Acids Res. 1986
PubMed ID: 3008106
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Methylation of the mouse hprt gene differs on the active and inactive X chromosomes.
Lock LF, Melton DW, Caskey CT, Martin GR
Mol Cell Biol. 1986
PubMed ID: 3022138
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Fine structure of the human hypoxanthine phosphoribosyltransferase gene.
Patel PI, Framson PE, Caskey CT, Chinault AC
Mol Cell Biol. 1986
PubMed ID: 3023844
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Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes.
Hershey HV, Taylor MW
Gene. 1986
PubMed ID: 3527873
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Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement.
Dush MK, Sikela JM, Khan SA, Tischfield JA, Stambrook PJ
Proc Natl Acad Sci U S A. 1985
PubMed ID: 3921964
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HPRT: gene structure, expression, and mutation.
Stout JT, Caskey CT
Annu Rev Genet. 1985
PubMed ID: 3909940
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Metabolism of hypoxanthine in isolated rat hepatocytes.
Vincent MF, Van den Berghe G, Hers HG
Biochem J. 1984
PubMed ID: 6206848
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Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT
Nature. 1984
PubMed ID: 6087154
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Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues.
Natsumeda Y, Prajda N, Donohue JP, Glover JL, Weber G
Cancer Res. 1984
PubMed ID: 6327016
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Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.
Melton DW, Konecki DS, Brennand J, Caskey CT
Proc Natl Acad Sci U S A. 1984
PubMed ID: 6326107
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Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
Wilson JM, Kelley WN
J Biol Chem. 1984
PubMed ID: 6706936
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Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
Snyder FF, Chudley AE, MacLeod PM, Carter RJ, Fung E, Lowe JK
Hum Genet. 1984
PubMed ID: 6204922
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Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN
J Clin Invest. 1983
PubMed ID: 6309910
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Human hypoxanthine-guanine phosphoribosyltransferase.
Wilson JM, Kobayashi R, Fox IH, Kelley WN
J Biol Chem. 1983
PubMed ID: 6853490
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A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases.
Argos P, Hanei M, Wilson JM, Kelley WN
J Biol Chem. 1983
PubMed ID: 6343377
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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
Wilson JM, Kelley WN
J Clin Invest. 1983
PubMed ID: 6853716
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Electrophoretic variation for X chromosome-linked hypoxanthine phosphoribosyl transferase (HPRT) in wild-derived mice.
Chapman VM, Kratzer PG, Quarantillo BA
Genetics. 1983
PubMed ID: 6852525
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Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.
Wilson JM, Tarr GE, Kelley WN
Proc Natl Acad Sci U S A. 1983
PubMed ID: 6572373
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Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.
Jolly DJ, Okayama H, Berg P, Esty AC, Filpula D, Bohlen P, Johnson GG, Shively JE, Hunkapillar T, Friedmann T
Proc Natl Acad Sci U S A. 1983
PubMed ID: 6300847
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Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants.
Konecki DS, Brennand J, Fuscoe JC, Caskey CT, Chinault AC
Nucleic Acids Res. 1982
PubMed ID: 6294614
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Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.
Wilson JM, Tarr GE, Mahoney WC, Kelley WN
J Biol Chem. 1982
PubMed ID: 7107641
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Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.
Brennand J, Chinault AC, Konecki DS, Melton DW, Caskey CT
Proc Natl Acad Sci U S A. 1982
PubMed ID: 6952245
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Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.
Pai GS, Sprenkle JA, Do TT, Mareni CE, Migeon BR
Proc Natl Acad Sci U S A. 1980
PubMed ID: 6930669
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Activities of amidophosphoribosyltransferase (EC2.4.2.14) and the purine phosphoribosyltransferases (EC2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development--their possible relat
Allsop J, Watts RW
J Neurol Sci. 1980
PubMed ID: 6155447
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Isoenzyme pattern of HPRT in murine erythrocytes: control by an autosomal locus.
Nesbitt MN, Bakay B, Gardner MB, Day C
Biochem Genet. 1979
PubMed ID: 540025
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Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse.
Francke U, Taggart RT
Proc Natl Acad Sci U S A. 1979
PubMed ID: 291939
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Developmental expression of murine HPRT. I. Activities, heat stabilities, and electrophoretic mobilities in adult tissues.
Lo YF, Palmour RM
Biochem Genet. 1979
PubMed ID: 540017
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Assignment of the genes for thymidine kinase and galactokinase to Mus musculus chromosome 11 and the preferential segregation of this chromosome in Chinese hamster/mouse somatic cell hybrids.
Kozak CA, Ruddle FH
Somatic Cell Genet. 1977
PubMed ID: 204065
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Somatic cell genetic evidence for X-chromosome linkage of three enzymes in the mouse.
Chapman VM, Shows TB
Nature. 1976
PubMed ID: 943046
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Gene linkage analysis in the mouse by somatic cell hybridization: assignment of adenine phosphoribosyltransferase to chromosome 8 and alpha-galactosidase to the X chromosome.
Kozak C, Nichols E, Ruddle FH
Somatic Cell Genet. 1975
PubMed ID: 1235912
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Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin.
COLEMAN DL
Arch Biochem Biophys. 1962
PubMed ID: 13880466
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