NR0B1
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Linkage Regions: 1 Available
| Locus | Species | Chromosomal Location | Mb | Number of genes | Linkage and Congenic Studies |
|---|---|---|---|---|---|
| Unnamed ChrX | Rat | chrX:23104745..86104983 | 63.00 | 362 | 1 Non-significant for backcross |
(Human) GRCh37 - chrX:30322323..30327715 (5.39 kb) View in Genome Browser
(Mouse) NCBIM37 - chrX:83437103..83441286 (4.18 kb) View in Genome Browser
(Rat) RGSC3.4 - chrX:73006294..73010422 (4.13 kb) View in Genome Browser
HaemAtlas Expression Table for NR0B1:
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 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
Expression Legend
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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 NR0B1:The NR0B1 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 |
| NR0B1 | TRIM28 | BioGRID | empirical | 17093407 |
| NR0B1 | WDR5 | BioGRID | empirical | 20362541 |
| NR0B1 | ESR1 | HPRD | empirical | 11053406 |
| NR0B1 | ESR2 | HPRD | empirical | 11053406 |
| NR0B1 | ESRRA | HPRD, BioGRID | empirical | 15604093 |
| NR0B1 | ESRRB | BioGRID | empirical | 20362541 17093407 |
| NR0B1 | ESRRG | BioGRID | empirical | 15604093 |
| NR0B1 | SNW1 | HPRD, BioGRID | empirical | 15604093 20362541 |
| NR0B1 | ZNF609 | BioGRID | empirical | 17093407 |
| NR0B1 | ZNF281 | IntAct | empirical | 17093407 |
| NR0B1 | NR5A1 | HPRD | empirical | 14963109 |
| NR0B1 | HNF4A | BioGRID | empirical | 19651776 |
| NR0B1 | PRMT1 | BioGRID | empirical | 20362541 |
| NR0B1 | AR | HPRD | empirical | 11875111 |
| NR0B1 | PGR | BioGRID | empirical | 12771131 |
| NR0B1 | PELO | BioGRID | empirical | 17093407 |
| NR0B1 | POU5F1 | IntAct, BioGRID | empirical | 17093407 20362541 19528230 |
| NR0B1 | PPARG | HPRD | empirical | 15604093 |
| NR0B1 | MED1 | Reactome | predicted | 10542397 10235266 16751179 15896744 15175151 11865025 9653119 |
| NR0B1 | RIF1 | IntAct, BioGRID | empirical | 17093407 20362541 |
| NR0B1 | SALL4 | BioGRID | empirical | 20362541 17093407 |
| NR0B1 | REST | BioGRID | empirical | 17093407 |
| NR0B1 | RORA | HPRD, MINT, IntAct | empirical | 16713569 |
| NR0B1 | SALL1 | BioGRID | empirical | 20362541 |
| NR0B1 | SLC8A1 | IntAct | empirical | 17093407 |
| NR0B1 | SP1 | BioGRID | empirical | 17093407 |
| NR0B1 | SREBF1 | HPRD, BioGRID | empirical | 11713202 |
| NR0B1 | NANOG | IntAct, BioGRID | empirical | 17093407 |
| NR0B1 | NRIP1 | HPRD, BioGRID | empirical | 11459805 |
| NR0B1 | OGT | BioGRID | empirical | 20362541 |
| NR0B1 | COPS2 | HPRD, MIPS | empirical | 10713076 |
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Publications: 203
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Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.
Choi JH, Park JY, Kim GH, Jin HY, Lee BH, Kim JH, Shin CH, Yang SW, Yoo HW
Metabolism. 2011
PubMed ID: 21632081
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DAX1 suppresses FXR transactivity as a novel co-repressor.
Li J, Lu Y, Liu R, Xiong X, Zhang Z, Zhang X, Ning G, Li X
Biochem Biophys Res Commun. 2011
PubMed ID: 21856289
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Evidence of adrenal failure in aging Dax1-deficient mice.
Scheys JO, Heaton JH, Hammer GD
Endocrinology. 2011
PubMed ID: 21733829
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Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.
Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S
Hum Reprod. 2011
PubMed ID: 21227944
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The prognostic value of the orphan nuclear receptor DAX-1 (NROB1) in node-negative breast cancer.
Zhang H, Slewa A, Janssen E, Skaland I, Yu Y, Gudlaugsson E, Feng W, Kjellevold K, Søiland H, Baak JP
Anticancer Res. 2011
PubMed ID: 21378322
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LRH-1 and Nanog regulate Dax1 transcription in mouse embryonic stem cells.
Kelly VR, Hammer GD
Mol Cell Endocrinol. 2011
PubMed ID: 20937355
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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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Expression and functional analysis of Dkk1 during early gonadal development.
Combes AN, Bowles J, Feng CW, Chiu HS, Khoo PL, Jackson A, Little MH, Tam PP, Koopman P
Sex Dev. 2011
PubMed ID: 21654186
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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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Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R, Martinez-Aguayo A, Ferraz-de-Souza B, Lin L, Achermann JC
Endocr Dev. 2011
PubMed ID: 21164257
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Screening large numbers of expression patterns of transcription factors in late stages of the mouse thymus.
Chung YC, Tsai YJ, Shiu TY, Sun YY, Wang PF, Chen CL
Gene Expr Patterns. 2011
PubMed ID: 20932939
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Dax1 up-regulates Oct4 expression in mouse embryonic stem cells via LRH-1 and SRA.
Kelly VR, Xu B, Kuick R, Koenig RJ, Hammer GD
Mol Endocrinol. 2010
PubMed ID: 20943815
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Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.
Li N, Liu R, Zhang H, Yang J, Sun S, Zhang M, Liu Y, Lu Y, Wang W, Mu Y, Ning G, Li X
J Clin Endocrinol Metab. 2010
PubMed ID: 20573681
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[Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations].
Fu Y, Nie M, Xia WB, Lu L, Mao JF, Pan H, Wu XY, Zhao WG
Zhonghua Yi Xue Za Zhi. 2010
PubMed ID: 21029627
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Nuclear receptors in leydig cell gene expression and function.
Martin LJ, Tremblay JJ
Biol Reprod. 2010
PubMed ID: 20375256
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Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst.
Guo G, Huss M, Tong GQ, Wang C, Li Sun L, Clarke ND, Robson P
Dev Cell. 2010
PubMed ID: 20412781
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An Oct4-centered protein interaction network in embryonic stem cells.
van den Berg DL, Snoek T, Mullin NP, Yates A, Bezstarosti K, Demmers J, Chambers I, Poot RA
Cell Stem Cell. 2010
PubMed ID: 20362541
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Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y
Clin Endocrinol (Oxf). 2010
PubMed ID: 19508677
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Orphan nuclear receptor DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis.
Nedumaran B, Kim GS, Hong S, Yoon YS, Kim YH, Lee CH, Lee YC, Koo SH, Choi HS
J Biol Chem. 2010
PubMed ID: 20080977
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Fetal testis dysgenesis and compromised Leydig cell function in Tgfbr3 (beta glycan) knockout mice.
Sarraj MA, Escalona RM, Umbers A, Chua HK, Small C, Griswold M, Loveland K, Findlay JK, Stenvers KL
Biol Reprod. 2010
PubMed ID: 19696014
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The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency.
Krentz AD, Murphy MW, Kim S, Cook MS, Capel B, Zhu R, Matin A, Sarver AL, Parker KL, Griswold MD, Looijenga LH, Bardwell VJ, Zarkower D
Proc Natl Acad Sci U S A. 2009
PubMed ID: 20007774
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A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Yokoyama S, Ito Y, Ueno-Kudoh H, Shimizu H, Uchibe K, Albini S, Mitsuoka K, Miyaki S, Kiso M, Nagai A, Hikata T, Osada T, Fukuda N, Yamashita S, Harada D, Mezzano V, Kasai M, Puri PL, Hayashizaki Y, Okado H, Hashimoto M, Asahara H
Dev Cell. 2009
PubMed ID: 20059953
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EWS/FLI and its downstream target NR0B1 interact directly to modulate transcription and oncogenesis in Ewing's sarcoma.
Kinsey M, Smith R, Iyer AK, McCabe ER, Lessnick SL
Cancer Res. 2009
PubMed ID: 19920188
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Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal.
Munger SC, Aylor DL, Syed HA, Magwene PM, Threadgill DW, Capel B
Genes Dev. 2009
PubMed ID: 19884258
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Retinoic acid-induced nNOS expression depends on a novel PI3K/Akt/DAX1 pathway in human TGW-nu-I neuroblastoma cells.
Nagl F, Schönhofer K, Seidler B, Mages J, Allescher HD, Schmid RM, Schneider G, Saur D
Am J Physiol Cell Physiol. 2009
PubMed ID: 19726747
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Uncovering early response of gene regulatory networks in ESCs by systematic induction of transcription factors.
Nishiyama A, Xin L, Sharov AA, Thomas M, Mowrer G, Meyers E, Piao Y, Mehta S, Yee S, Nakatake Y, Stagg C, Sharova L, Correa-Cerro LS, Bassey U, Hoang H, Kim E, Tapnio R, Qian Y, Dudekula D, Zalzman M, Li M, Falco G, Yang HT, Lee SL, Monti M, Stanghellini I, Islam MN, Nagaraja R, Goldberg I, Wang W, Longo DL, Schlessinger D, Ko MS
Cell Stem Cell. 2009
PubMed ID: 19796622
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DAX-1 acts as a novel corepressor of orphan nuclear receptor HNF4alpha and negatively regulates gluconeogenic enzyme gene expression.
Nedumaran B, Hong S, Xie YB, Kim YH, Seo WY, Lee MW, Lee CH, Koo SH, Choi HS
J Biol Chem. 2009
PubMed ID: 19651776
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X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
Skinningsrud B, Husebye ES, Gilfillan GD, Frengen E, Erichsen A, Gervin K, Ormerod E, Egeland T, Undlien DE
J Clin Endocrinol Metab. 2009
PubMed ID: 19773398
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A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
García-Malpartida K, Gómez-Balaguer M, Solá-Izquierdo E, Fuentes-Pardilla MJ, Jover-Fernández A, Sanz-Ruiz I, Hernández-Mijares A
Endocrine. 2009
PubMed ID: 19672728
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Tumorigenic role of orphan nuclear receptor NR0B1 in lung adenocarcinoma.
Oda T, Tian T, Inoue M, Ikeda J, Qiu Y, Okumura M, Aozasa K, Morii E
Am J Pathol. 2009
PubMed ID: 19644015
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Dax1 binds to Oct3/4 and inhibits its transcriptional activity in embryonic stem cells.
Sun C, Nakatake Y, Akagi T, Ura H, Matsuda T, Nishiyama A, Koide H, Ko MS, Niwa H, Yokota T
Mol Cell Biol. 2009
PubMed ID: 19528230
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Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation.
Khalfallah O, Rouleau M, Barbry P, Bardoni B, Lalli E
Stem Cells. 2009
PubMed ID: 19530134
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DAX-1 and SOX6 molecular interplay results in an antagonistic effect in pre-mRNA splicing.
Ohe K, Tamai KT, Parvinen M, Sassone-Corsi P
Dev Dyn. 2009
PubMed ID: 19384854
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E3 ubiquitin ligase RNF31 cooperates with DAX-1 in transcriptional repression of steroidogenesis.
Ehrlund A, Anthonisen EH, Gustafsson N, Venteclef N, Robertson Remen K, Damdimopoulos AE, Galeeva A, Pelto-Huikko M, Lalli E, Steffensen KR, Gustafsson JA, Treuter E
Mol Cell Biol. 2009
PubMed ID: 19237537
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Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis.
Xu B, Yang WH, Gerin I, Hu CD, Hammer GD, Koenig RJ
Mol Cell Biol. 2009
PubMed ID: 19188450
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Nuclear receptor DAX1 in human prostate cancer: a novel independent biological modulator.
Nakamura Y, Suzuki T, Arai Y, Sasano H
Endocr J. 2009
PubMed ID: 18827407
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[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia]
Xu M, Wang YM, Xing XN, Zhou XH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009
PubMed ID: 19199243
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CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
Ferraz-de-Souza B, Martin F, Mallet D, Hudson-Davies RE, Cogram P, Lin L, Gerrelli D, Beuschlein F, Morel Y, Huebner A, Achermann JC
J Clin Endocrinol Metab. 2009
PubMed ID: 18984668
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Inhibin A inhibits follicle-stimulating hormone (FSH) action by suppressing its receptor expression in cultured rat granulosa cells.
Lu C, Yang W, Chen M, Liu T, Yang J, Tan P, Li L, Hu X, Fan C, Hu Z, Liu Y
Mol Cell Endocrinol. 2009
PubMed ID: 18992787
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Foxl2 functions in sex determination and histogenesis throughout mouse ovary development.
Garcia-Ortiz JE, Pelosi E, Omari S, Nedorezov T, Piao Y, Karmazin J, Uda M, Cao A, Cole SW, Forabosco A, Schlessinger D, Ottolenghi C
BMC Dev Biol. 2009
PubMed ID: 19538736
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X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
Goto M, Katsumata N
Horm Res. 2009
PubMed ID: 19129717
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DAX-1A (NR0B1A) expression levels are extremely low compared to DAX-1 (NR0B1) in human steroidogenic tissues.
Nakamura Y, Vargas Morris C, Sasano H, Rainey WE
Horm Metab Res. 2009
PubMed ID: 18819054
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Role of dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene 1 in protein kinase A- and protein kinase C-mediated regulation of the steroidogenic acute regulatory protein expression in mouse Leydig tumor c
Manna PR, Dyson MT, Jo Y, Stocco DM
Endocrinology. 2009
PubMed ID: 18787026
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A phenotypic spectrum of sexual development in Dax1 (Nr0b1)-deficient mice: consequence of the C57BL/6J strain on sex determination.
Park SY, Lee EJ, Emge D, Jahn CL, Jameson JL
Biol Reprod. 2008
PubMed ID: 18633137
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The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1.
Sablin EP, Woods A, Krylova IN, Hwang P, Ingraham HA, Fletterick RJ
Proc Natl Acad Sci U S A. 2008
PubMed ID: 19015525
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Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.
Wheeler B, George PM, Mackenzie K, Hunt P, Potter HC, Florkowski CM
Ann Clin Biochem. 2008
PubMed ID: 18941128
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DAX1, a direct target of EWS/FLI1 oncoprotein, is a principal regulator of cell-cycle progression in Ewing's tumor cells.
García-Aragoncillo E, Carrillo J, Lalli E, Agra N, Gómez-López G, Pestaña A, Alonso J
Oncogene. 2008
PubMed ID: 18591936
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Effects of gestational diethylstilbestrol treatment on male and female gonads during early embryonic development.
Ikeda Y, Tanaka H, Esaki M
Endocrinology. 2008
PubMed ID: 18436715
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Stem cell-specific expression of Dax1 is conferred by STAT3 and Oct3/4 in embryonic stem cells.
Sun C, Nakatake Y, Ura H, Akagi T, Niwa H, Koide H, Yokota T
Biochem Biophys Res Commun. 2008
PubMed ID: 18471437
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Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain.
Moldrich RX, Lainé J, Visel A, Beart PM, Laffaire J, Rossier J, Potier MC
Neuroscience. 2008
PubMed ID: 18541381
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DAX-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X-chromosome, gene 1) selectively inhibits transactivation but not transrepression mediated by the glucocorticoid receptor in a LXXLL-dependent manner.
Zhou J, Oakley RH, Cidlowski JA
Mol Endocrinol. 2008
PubMed ID: 18417736
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The orphan nuclear receptor DAX-1 acts as a novel transcriptional corepressor of PPARgamma.
Kim GS, Lee GY, Nedumaran B, Park YY, Kim KT, Park SC, Lee YC, Kim JB, Choi HS
Biochem Biophys Res Commun. 2008
PubMed ID: 18381063
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Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.
Chassot AA, Ranc F, Gregoire EP, Roepers-Gajadien HL, Taketo MM, Camerino G, de Rooij DG, Schedl A, Chaboissier MC
Hum Mol Genet. 2008
PubMed ID: 18250098
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GUDMAP: the genitourinary developmental molecular anatomy project.
McMahon AP, Aronow BJ, Davidson DR, Davies JA, Gaido KW, Grimmond S, Lessard JL, Little MH, Potter SS, Wilder EL, Zhang P, GUDMAP project
J Am Soc Nephrol. 2008
PubMed ID: 18287559
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Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter acti
Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T
Endocr J. 2008
PubMed ID: 18202527
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Usefulness of transcription factors Ad4BP/SF-1 and DAX-1 as immunohistologic markers for diagnosis of advanced adrenocortical carcinoma.
Kaneko T, Kojima Y, Umemoto Y, Sasaki S, Hayashi Y, Kohri K
Horm Res. 2008
PubMed ID: 18824868
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The neonatal ventromedial hypothalamus transcriptome reveals novel markers with spatially distinct patterning.
Kurrasch DM, Cheung CC, Lee FY, Tran PV, Hata K, Ingraham HA
J Neurosci. 2007
PubMed ID: 18077674
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A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.
Mericq V, Ciaccio M, Marino R, Lamoglia JJ, Viterbo G, Rivarola MA, Belgorosky A
J Pediatr Endocrinol Metab. 2007
PubMed ID: 18038713
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LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.
Iyer AK, Zhang YH, McCabe ER
Mol Genet Metab. 2007
PubMed ID: 17686645
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Distinct repressive properties of the mammalian and fish orphan nuclear receptors SHP and DAX-1.
Park YY, Teyssier C, Vanacker JM, Choi HS
Mol Cells. 2007
PubMed ID: 17646707
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WT1-mediated gene regulation in early urogenital ridge development.
Klattig J, Sierig R, Kruspe D, Makki MS, Englert C
Sex Dev. 2007
PubMed ID: 18391535
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A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
Calliari LE, Longui CA, Rocha MN, Faria CD, Kochi C, Melo MR, Melo MB, Monte O
Genet Mol Res. 2007
PubMed ID: 17573657
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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
Ahmad I, Paterson WF, Lin L, Adlard P, Duncan P, Tolmie J, Achermann JC, Donaldson MD
Horm Res. 2007
PubMed ID: 17308433
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In vivo inhibition of steroidogenic acute regulatory protein expression by dexamethasone parallels induction of the negative transcription factor DAX-1.
Yu CC, Li PH
Endocrine. 2006
PubMed ID: 17526944
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A protein interaction network for pluripotency of embryonic stem cells.
Wang J, Rao S, Chu J, Shen X, Levasseur DN, Theunissen TW, Orkin SH
Nature. 2006
PubMed ID: 17093407
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NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing's sarcoma.
Kinsey M, Smith R, Lessnick SL
Mol Cancer Res. 2006
PubMed ID: 17114343
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A dynamic expression survey identifies transcription factors relevant in mouse digestive tract development.
Choi MY, Romer AI, Hu M, Lepourcelet M, Mechoor A, Yesilaltay A, Krieger M, Gray PA, Shivdasani RA
Development. 2006
PubMed ID: 16971476
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Testicular gene expression profiling following prepubertal rat mono-(2-ethylhexyl) phthalate exposure suggests a common initial genetic response at fetal and prepubertal ages.
Lahousse SA, Wallace DG, Liu D, Gaido KW, Johnson KJ
Toxicol Sci. 2006
PubMed ID: 16809437
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Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.
Iyer AK, Zhang YH, McCabe ER
Mol Endocrinol. 2006
PubMed ID: 16709599
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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC
J Clin Endocrinol Metab. 2006
PubMed ID: 16684822
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DAX-1 expression is regulated during mammary epithelial cell differentiation.
Helguero LA, Hedengran Faulds M, Förster C, Gustafsson JA, Haldosén LA
Endocrinology. 2006
PubMed ID: 16627587
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Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis.
Niakan KK, Davis EC, Clipsham RC, Jiang M, Dehart DB, Sulik KK, McCabe ER
Mol Genet Metab. 2006
PubMed ID: 16466956
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Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia.
Kojima Y, Sasaki S, Hayashi Y, Umemoto Y, Morohashi K, Kohri K
Int J Urol. 2006
PubMed ID: 16834661
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A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY
Cell. 2006
PubMed ID: 16713569
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DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P
Eur J Endocrinol. 2006
PubMed ID: 16645015
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Role of prophet of Pit1 (PROP1) in gonadotrope differentiation and puberty.
Vesper AH, Raetzman LT, Camper SA
Endocrinology. 2006
PubMed ID: 16384867
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The orphan nuclear receptor DAX1 is up-regulated by the EWS/FLI1 oncoprotein and is highly expressed in Ewing tumors.
Mendiola M, Carrillo J, García E, Lalli E, Hernández T, de Alava E, Tirode F, Delattre O, García-Miguel P, López-Barea F, Pestaña A, Alonso J
Int J Cancer. 2006
PubMed ID: 16206264
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Deconstructing mammalian reproduction: using knockouts to define fertility pathways.
Roy A, Matzuk MM
Reproduction. 2006
PubMed ID: 16452715
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Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia.
Mantovani G, Mancini M, Gazzano G, Spada A, Colpi GM, Beck-Peccoz P, Persani L
Fertil Steril. 2005
PubMed ID: 16275267
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Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.
Tsai WY, Tung YC
J Pediatr Endocrinol Metab. 2005
PubMed ID: 16355812
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Orphan nuclear receptor DAX-1 in human endometrium and its disorders.
Saito S, Ito K, Suzuki T, Utsunomiya H, Akahira J, Sugihashi Y, Niikura H, Okamura K, Yaegashi N, Sasano H
Cancer Sci. 2005
PubMed ID: 16232195
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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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DAX1 origin, function, and novel role.
Niakan KK, McCabe ER
Mol Genet Metab. 2005
PubMed ID: 16146703
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Foxl2 is required for commitment to ovary differentiation.
Ottolenghi C, Omari S, Garcia-Ortiz JE, Uda M, Crisponi L, Forabosco A, Pilia G, Schlessinger D
Hum Mol Genet. 2005
PubMed ID: 15944199
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Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells.
Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM
Development. 2005
PubMed ID: 15944188
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The role of SF1/DAX1 in adrenal and reproductive function.
Achermann JC
Ann Endocrinol (Paris). 2005
PubMed ID: 15988384
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Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.
Franzese A, Brunetti-Pierri N, Spagnuolo MI, Spadaro R, Giugliano M, Mukai T, Valerio G
Am J Med Genet A. 2005
PubMed ID: 15800903
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Clinical and molecular evidence for DAX-1 inhibition of steroidogenic factor-1-dependent ACTH receptor gene expression.
Zwermann O, Beuschlein F, Lalli E, Klink A, Sassone-Corsi P, Reincke M
Eur J Endocrinol. 2005
PubMed ID: 15879363
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Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG
Hum Mutat. 2005
PubMed ID: 15841486
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Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development.
Park SY, Meeks JJ, Raverot G, Pfaff LE, Weiss J, Hammer GD, Jameson JL
Development. 2005
PubMed ID: 15829514
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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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Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.
Krylova IN, Sablin EP, Moore J, Xu RX, Waitt GM, MacKay JA, Juzumiene D, Bynum JM, Madauss K, Montana V, Lebedeva L, Suzawa M, Williams JD, Williams SP, Guy RK, Thornton JW, Fletterick RJ, Willson TM, Ingraham HA
Cell. 2005
PubMed ID: 15707893
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Automated yeast two-hybrid screening for nuclear receptor-interacting proteins.
Albers M, Kranz H, Kober I, Kaiser C, Klink M, Suckow J, Kern R, Koegl M
Mol Cell Proteomics. 2005
PubMed ID: 15604093
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An autoregulatory loop controlling orphan nuclear receptor DAX-1 gene expression by orphan nuclear receptor ERRgamma.
Park YY, Ahn SW, Kim HJ, Kim JM, Lee IK, Kang H, Choi HS
Nucleic Acids Res. 2005
PubMed ID: 16314306
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Gene and alternative splicing annotation with AIR.
Florea L, Di Francesco V, Miller J, Turner R, Yao A, Harris M, Walenz B, Mobarry C, Merkulov GV, Charlab R, Dew I, Deng Z, Istrail S, Li P, Sutton G
Genome Res. 2005
PubMed ID: 15632090
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Mouse brain organization revealed through direct genome-scale TF expression analysis.
Gray PA, Fu H, Luo P, Zhao Q, Yu J, Ferrari A, Tenzen T, Yuk DI, Tsung EF, Cai Z, Alberta JA, Cheng LP, Liu Y, Stenman JM, Valerius MT, Billings N, Kim HA, Greenberg ME, McMahon AP, Rowitch DH, Stiles CD, Ma Q
Science. 2004
PubMed ID: 15618518
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NR0B1A: an alternatively spliced form of NR0B1.
Ho J, Zhang YH, Huang BL, McCabe ER
Mol Genet Metab. 2004
PubMed ID: 15589120
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Regulation of steroidogenesis and steroidogenic acute regulatory protein in R2C cells by DAX-1 (dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene-1).
Jo Y, Stocco DM
Endocrinology. 2004
PubMed ID: 15358680
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Using real time RT-PCR analysis to determine multiple gene expression patterns during XX and XY mouse fetal gonad development.
Bouma GJ, Hart GT, Washburn LL, Recknagel AK, Eicher EM
Gene Expr Patterns. 2004
PubMed ID: 15533830
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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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Molecular mechanisms of DAX1 action.
Iyer AK, McCabe ER
Mol Genet Metab. 2004
PubMed ID: 15464421
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Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.
AvRuskin TW, Krishnan N, Juan CS
J Pediatr Endocrinol Metab. 2004
PubMed ID: 15379426
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The atypical orphan nuclear receptor DAX-1 interacts with orphan nuclear receptor Nur77 and represses its transactivation.
Song KH, Park YY, Park KC, Hong CY, Park JH, Shong M, Lee K, Choi HS
Mol Endocrinol. 2004
PubMed ID: 15155786
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One tissue, two fates: molecular genetic events that underlie testis versus ovary development.
Brennan J, Capel B
Nat Rev Genet. 2004
PubMed ID: 15211353
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Quantitative proteomics of the thyroid hormone receptor-coregulator interactions.
Moore JM, Galicia SJ, McReynolds AC, Nguyen NH, Scanlan TS, Guy RK
J Biol Chem. 2004
PubMed ID: 15100213
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Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing.
Hossain A, Li C, Saunders GF
Mol Endocrinol. 2004
PubMed ID: 15044589
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Differential role of the loop region between helices H6 and H7 within the orphan nuclear receptors small heterodimer partner and DAX-1.
Park YY, Kim HJ, Kim JY, Kim MY, Song KH, Cheol Park K, Yu KY, Shong M, Kim KH, Choi HS
Mol Endocrinol. 2004
PubMed ID: 14963109
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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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Hybrid breakdown caused by substitution of the X chromosome between two mouse subspecies.
Oka A, Mita A, Sakurai-Yamatani N, Yamamoto H, Takagi N, Takano-Shimizu T, Toshimori K, Moriwaki K, Shiroishi T
Genetics. 2004
PubMed ID: 15020476
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DAX-1 expression in human breast cancer: comparison with estrogen receptors ER-alpha, ER-beta and androgen receptor status.
Conde I, Alfaro JM, Fraile B, Ruíz A, Paniagua R, Arenas MI
Breast Cancer Res. 2004
PubMed ID: 15084237
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GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Visel A, Thaller C, Eichele G
Nucleic Acids Res. 2004
PubMed ID: 14681479
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Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis.
Clipsham R, Niakan K, McCabe ER
Gene Expr Patterns. 2004
PubMed ID: 14678822
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Mixed lineage kinase 2 enhances trans-repression of Alien and nuclear receptors.
Eckey M, Tenbaum SP, Muñoz A, Baniahmad A
Mol Cell Endocrinol. 2003
PubMed ID: 15062575
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Repressors of androgen and progesterone receptor action.
Agoulnik IU, Krause WC, Bingman WE, Rahman HT, Amrikachi M, Ayala GE, Weigel NL
J Biol Chem. 2003
PubMed ID: 12771131
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Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle.
Sato Y, Suzuki T, Hidaka K, Sato H, Ito K, Ito S, Sasano H
J Clin Endocrinol Metab. 2003
PubMed ID: 12843196
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Leydig cell-specific expression of DAX1 improves fertility of the Dax1-deficient mouse.
Meeks JJ, Russell TA, Jeffs B, Huhtaniemi I, Weiss J, Jameson JL
Biol Reprod. 2003
PubMed ID: 12606353
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Cell proliferation is necessary for the determination of male fate in the gonad.
Schmahl J, Capel B
Dev Biol. 2003
PubMed ID: 12798287
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Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1).
Kawajiri K, Ikuta T, Suzuki T, Kusaka M, Muramatsu M, Fujieda K, Tachibana M, Morohashi K
Mol Endocrinol. 2003
PubMed ID: 12610109
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Down-regulation of steroidogenic response to gonadotropins in human and rat preovulatory granulosa cells involves mitogen-activated protein kinase activation and modulation of DAX-1 and steroidogenic factor-1.
Tajima K, Dantes A, Yao Z, Sorokina K, Kotsuji F, Seger R, Amsterdam A
J Clin Endocrinol Metab. 2003
PubMed ID: 12727988
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Involvement of cyclic adenosine 5'-monophosphate response element-binding protein, steroidogenic factor 1, and Dax-1 in the regulation of gonadotropin-inducible ovarian transcription factor 1 gene expression by follicle-stimulating hormone in ovarian gran
Yazawa T, Mizutani T, Yamada K, Kawata H, Sekiguchi T, Yoshino M, Kajitani T, Shou Z, Miyamoto K
Endocrinology. 2003
PubMed ID: 12697699
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Dax1 is required for testis determination.
Meeks JJ, Weiss J, Jameson JL
Nat Genet. 2003
PubMed ID: 12679814
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Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad.
Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, Swain A, Morohashi K
Mol Endocrinol. 2003
PubMed ID: 12554773
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Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.
Brown P, Scobie GA, Townsend J, Bayne RA, Seckl JR, Saunders PT, Anderson RA
J Clin Endocrinol Metab. 2003
PubMed ID: 12629128
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Dax1 regulates testis cord organization during gonadal differentiation.
Meeks JJ, Crawford SE, Russell TA, Morohashi K, Weiss J, Jameson JL
Development. 2003
PubMed ID: 12538527
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Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
Hellerud C, Burlina A, Gabelli C, Ellis JR, Nyholm PG, Lindstedt S
Clin Chem Lab Med. 2003
PubMed ID: 12636049
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An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
Ozisik G, Mantovani G, Achermann JC, Persani L, Spada A, Weiss J, Beck-Peccoz P, Jameson JL
J Clin Endocrinol Metab. 2003
PubMed ID: 12519885
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LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1.
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Mol Cell Biol. 2003
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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Proc Natl Acad Sci U S A. 2002
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Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Okazaki Y, Furuno M, Kasukawa T, Adachi J, Bono H, Kondo S, Nikaido I, Osato N, Saito R, Suzuki H, Yamanaka I, Kiyosawa H, Yagi K, Tomaru Y, Hasegawa Y, Nogami A, Schönbach C, Gojobori T, Baldarelli R, Hill DP, Bult C, Hume DA, Quackenbush J, Schriml LM, Kanapin A, Matsuda H, Batalov S, Beisel KW, Blake JA, Bradt D, Brusic V, Chothia C, Corbani LE, Cousins S, Dalla E, Dragani TA, Fletcher CF, Forrest A, Frazer KS, Gaasterland T, Gariboldi M, Gissi C, Godzik A, Gough J, Grimmond S, Gustincich S, Hirokawa N, Jackson IJ, Jarvis ED, Kanai A, Kawaji H, Kawasawa Y, Kedzierski RM, King BL, Konagaya A, Kurochkin IV, Lee Y, Lenhard B, Lyons PA, Maglott DR, Maltais L, Marchionni L, McKenzie L, Miki H, Nagashima T, Numata K, Okido T, Pavan WJ, Pertea G, Pesole G, Petrovsky N, Pillai R, Pontius JU, Qi D, Ramachandran S, Ravasi T, Reed JC, Reed DJ, Reid J, Ring BZ, Ringwald M, Sandelin A, Schneider C, Semple CA, Setou M, Shimada K, Sultana R, Takenaka Y, Taylor MS, Teasdale RD, Tomita M, Verardo R, Wagner L, Wahlestedt C, Wang Y, Watanabe Y, Wells C, Wilming LG, Wynshaw-Boris A, Yanagisawa M, Yang I, Yang L, Yuan Z, Zavolan M, Zhu Y, Zimmer A, Carninci P, Hayatsu N, Hirozane-Kishikawa T, Konno H, Nakamura M, Sakazume N, Sato K, Shiraki T, Waki K, Kawai J, Aizawa K, Arakawa T, Fukuda S, Hara A, Hashizume W, Imotani K, Ishii Y, Itoh M, Kagawa I, Miyazaki A, Sakai K, Sasaki D, Shibata K, Shinagawa A, Yasunishi A, Yoshino M, Waterston R, Lander ES, Rogers J, Birney E, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group Phase I & II Team
Nature. 2002
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WT1 and DAX-1 inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells.
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J Clin Endocrinol Metab. 2002
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Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, Pralong FP
J Clin Endocrinol Metab. 2002
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The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1.
Wilhelm D, Englert C
Genes Dev. 2002
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Sexually dimorphic expression of Dax-1 in the adrenal cortex.
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Genes Cells. 2002
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X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
Lehmann SG, Lalli E, Sassone-Corsi P
Proc Natl Acad Sci U S A. 2002
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Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.
Shalitin S, Josefsberg Z, Vilain E, Shomrat R, Weintrob N
Mol Genet Metab. 2002
PubMed ID: 12083815
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Dax1 expression is dependent on steroidogenic factor 1 in the developing gonad.
Hoyle C, Narvaez V, Alldus G, Lovell-Badge R, Swain A
Mol Endocrinol. 2002
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Inhibition of androgen receptor (AR) function by the reproductive orphan nuclear receptor DAX-1.
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Mol Endocrinol. 2002
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Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1.
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Endocrinology. 2002
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Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
Mantovani G, Ozisik G, Achermann JC, Romoli R, Borretta G, Persani L, Spada A, Jameson JL, Beck-Peccoz P
J Clin Endocrinol Metab. 2002
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Phenotypic spectrum of mutations in DAX-1 and SF-1.
Achermann JC, Meeks JJ, Jameson JL
Mol Cell Endocrinol. 2001
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Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin.
Patel MV, McKay IA, Burrin JM
J Invest Dermatol. 2001
PubMed ID: 11886523
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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK
Hum Mutat. 2001
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DAX-1 represses the high-density lipoprotein receptor through interaction with positive regulators sterol regulatory element-binding protein-1a and steroidogenic factor-1.
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Endocrinology. 2001
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Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice.
Jeffs B, Meeks JJ, Ito M, Martinson FA, Matzuk MM, Jameson JL, Russell LD
Endocrinology. 2001
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Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.
Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB
J Clin Endocrinol Metab. 2001
PubMed ID: 11549627
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Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation.
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Cell. 2001
PubMed ID: 11509181
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RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1.
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Endocrinology. 2001
PubMed ID: 11459805
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Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL
J Clin Endocrinol Metab. 2001
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Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice.
Jeffs B, Ito M, Yu RN, Martinson FA, Wang ZJ, Doglio LT, Jameson JL
Endocrinology. 2001
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Functional annotation of a full-length mouse cDNA collection.
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Nature. 2001
PubMed ID: 11217851
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Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.
Patel M, Dorman KS, Zhang YH, Huang BL, Arnold AP, Sinsheimer JS, Vilain E, McCabe ER
Am J Hum Genet. 2001
PubMed ID: 11112659
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DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors.
Zhang H, Thomsen JS, Johansson L, Gustafsson JA, Treuter E
J Biol Chem. 2000
PubMed ID: 11053406
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Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
Achermann JC, Silverman BL, Habiby RL, Jameson JL
J Pediatr. 2000
PubMed ID: 11113848
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RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Shibata K, Itoh M, Aizawa K, Nagaoka S, Sasaki N, Carninci P, Konno H, Akiyama J, Nishi K, Kitsunai T, Tashiro H, Itoh M, Sumi N, Ishii Y, Nakamura S, Hazama M, Nishine T, Harada A, Yamamoto R, Matsumoto H, Sakaguchi S, Ikegami T, Kashiwagi K, Fujiwake S, Inoue K, Togawa Y
Genome Res. 2000
PubMed ID: 11076861
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Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Carninci P, Shibata Y, Hayatsu N, Sugahara Y, Shibata K, Itoh M, Konno H, Okazaki Y, Muramatsu M, Hayashizaki Y
Genome Res. 2000
PubMed ID: 11042159
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Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
Lalli E, Ohe K, Hindelang C, Sassone-Corsi P
Mol Cell Biol. 2000
PubMed ID: 10848616
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Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita.
Altincicek B, Tenbaum SP, Dressel U, Thormeyer D, Renkawitz R, Baniahmad A
J Biol Chem. 2000
PubMed ID: 10713076
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The LIM homeobox gene Lhx9 is essential for mouse gonad formation.
Birk OS, Casiano DE, Wassif CA, Cogliati T, Zhao L, Zhao Y, Grinberg A, Huang S, Kreidberg JA, Parker KL, Porter FD, Westphal H
Nature. 2000
PubMed ID: 10706291
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A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson JL, Bouchard P
J Clin Invest. 2000
PubMed ID: 10675358
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Temperature-dependent sex determination in the American alligator: expression of SF1, WT1 and DAX1 during gonadogenesis.
Western PS, Harry JL, Marshall Graves JA, Sinclair AH
Gene. 2000
PubMed ID: 10675033
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X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF
J Clin Endocrinol Metab. 1999
PubMed ID: 10599709
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Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.
Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P
J Clin Endocrinol Metab. 1999
PubMed ID: 10522996
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New solutions to an ancient riddle: defining the differences between Adam and Eve.
Roberts LM, Shen J, Ingraham HA
Am J Hum Genet. 1999
PubMed ID: 10486311
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Dax-1 as one of the target genes of Ad4BP/SF-1.
Kawabe K, Shikayama T, Tsuboi H, Oka S, Oba K, Yanase T, Nawata H, Morohashi K
Mol Endocrinol. 1999
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Shishkina GT, Dygalo NN
Usp Fiziol Nauk. 1999
PubMed ID: 10512011
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DAX-1, an 'antitestis' gene.
Goodfellow PN, Camerino G
Cell Mol Life Sci. 1999
PubMed ID: 10412368
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Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.
Abe S, Nakae J, Yasoshima K, Tajima T, Shinohara N, Murashita M, Satoh K, Koike A, Takahashi Y, Fujieda K
Am J Med Genet. 1999
PubMed ID: 10323730
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A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J, Killinger DW, Hegele RA
J Investig Med. 1999
PubMed ID: 10361383
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Localization of serine kinases, SRPK1 (SFRSK1) and SRPK2 (SFRSK2), specific for the SR family of splicing factors in mouse and human chromosomes.
Wang HY, Arden KC, Bermingham JR, Viars CS, Lin W, Boyer AD, Fu XD
Genomics. 1999
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Targeted disruption of the Ahch (Dax-1) gene: knockout of old concepts.
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Eur J Endocrinol. 1999
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High-efficiency full-length cDNA cloning.
Carninci P, Hayashizaki Y
Methods Enzymol. 1999
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Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
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Clin Endocrinol (Oxf). 1999
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Role of Ahch in gonadal development and gametogenesis.
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Ahch and the feminine mystique.
Parker KL, Schimmer BP
Nat Genet. 1998
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The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcription factor) via a composite nuclear receptor-regulatory element.
Yu RN, Ito M, Jameson JL
Mol Endocrinol. 1998
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DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER
Am J Hum Genet. 1998
PubMed ID: 9529340
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Dax1 antagonizes Sry action in mammalian sex determination.
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R
Nature. 1998
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A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita.
Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, Sassone-Corsi P
Mol Endocrinol. 1997
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DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis.
Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P
Nature. 1997
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Praja1, a novel gene encoding a RING-H2 motif in mouse development.
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Oncogene. 1997
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Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J, Abe S, Tajima T, Shinohara N, Murashita M, Igarashi Y, Kusuda S, Suzuki J, Fujieda K
J Clin Endocrinol Metab. 1997
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The candidate sex-reversing DAX1 gene is autosomal in marsupials: implications for the evolution of sex determination in mammals.
Pask A, Toder R, Wilcox SA, Camerino G, Graves JA
Genomics. 1997
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Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
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J Pediatr. 1997
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X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.
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Hum Genet. 1997
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Hormonal and developmental regulation of DAX-1 expression in Sertoli cells.
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Mol Endocrinol. 1996
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Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus.
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Gene. 1996
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Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development.
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Mol Endocrinol. 1996
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Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K
J Clin Endocrinol Metab. 1996
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Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue.
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Endocrinology. 1996
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Differential patterns of expression of DAX-1 and steroidogenic factor-1 (SF-1) in the fetal rat testis.
Majdic G, Saunders PT
Endocrinology. 1996
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Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
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J Clin Endocrinol Metab. 1996
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Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.
Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G
Nat Genet. 1996
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New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
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J Clin Endocrinol Metab. 1996
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Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.
Guo W, Burris TP, McCabe ER
Biochem Mol Med. 1995
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Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter.
Burris TP, Guo W, Le T, McCabe ER
Biochem Biophys Res Commun. 1995
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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
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Nature. 1994
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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
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Nature. 1994
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A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.
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Nat Genet. 1994
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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
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Hum Mol Genet. 1992
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Identification of new markers in Xp21 between DXS28 (C7) and DMD.
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Genomics. 1992
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X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family.
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Acta Paediatr Scand. 1982
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