366 related articles for article (PubMed ID: 12034880)
1. 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 Jun; 99(12):8225-30. PubMed ID: 12034880
[TBL] [Abstract][Full Text] [Related]
2. The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.
Burris TP; Guo W; McCabe ER
Recent Prog Horm Res; 1996; 51():241-59; discussion 259-60. PubMed ID: 8701082
[TBL] [Abstract][Full Text] [Related]
3. Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
Laissue P; Copelli S; Bergada I; Bergada C; Barrio G; Karaboga S; Wurtz JM; Fellous M; Lalli E; Veitia RA
Clin Endocrinol (Oxf); 2006 Nov; 65(5):681-6. PubMed ID: 17054473
[TBL] [Abstract][Full Text] [Related]
4. 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 Jun; 17(6):994-1004. PubMed ID: 12610109
[TBL] [Abstract][Full Text] [Related]
5. DAX-1, an "antitestis" gene.
Goodfellow PN; Camerino G
EXS; 2001; (91):57-69. PubMed ID: 11301600
[TBL] [Abstract][Full Text] [Related]
6. 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 Dec; 18(6):547. PubMed ID: 11748852
[TBL] [Abstract][Full Text] [Related]
7. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK; McCabe ER
Hum Mutat; 2001 Dec; 18(6):472-87. PubMed ID: 11748841
[TBL] [Abstract][Full Text] [Related]
8. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
Ito M; Yu R; Jameson JL
Mol Cell Biol; 1997 Mar; 17(3):1476-83. PubMed ID: 9032275
[TBL] [Abstract][Full Text] [Related]
9. 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 Nov; 82(11):3835-41. PubMed ID: 9360549
[TBL] [Abstract][Full Text] [Related]
10. DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis.
Zazopoulos E; Lalli E; Stocco DM; Sassone-Corsi P
Nature; 1997 Nov; 390(6657):311-5. PubMed ID: 9384387
[TBL] [Abstract][Full Text] [Related]
11. 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 Oct; 81(10):3680-5. PubMed ID: 8855822
[TBL] [Abstract][Full Text] [Related]
12. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
Loke KY; Poh LK; Lee WW; Lai PS
Horm Res; 2009; 71(5):298-304. PubMed ID: 19339795
[TBL] [Abstract][Full Text] [Related]
13. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
Reutens AT; Achermann JC; Ito M; Ito M; Gu WX; Habiby RL; Donohoue PA; Pang S; Hindmarsh PC; Jameson JL
J Clin Endocrinol Metab; 1999 Feb; 84(2):504-11. PubMed ID: 10022408
[TBL] [Abstract][Full Text] [Related]
14. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J; Killinger DW; Hegele RA
J Investig Med; 1999 May; 47(5):232-5. PubMed ID: 10361383
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Muscatelli F; Strom TM; Walker AP; Zanaria E; Récan D; Meindl A; Bardoni B; Guioli S; Zehetner G; Rabl W
Nature; 1994 Dec; 372(6507):672-6. PubMed ID: 7990958
[TBL] [Abstract][Full Text] [Related]
16. 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 Apr; 17(4):507-19. PubMed ID: 12554773
[TBL] [Abstract][Full Text] [Related]
17. 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 May; 84(2):87-9. PubMed ID: 10323730
[TBL] [Abstract][Full Text] [Related]
18. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
Peter M; Viemann M; Partsch CJ; Sippell WG
J Clin Endocrinol Metab; 1998 Aug; 83(8):2666-74. PubMed ID: 9709929
[TBL] [Abstract][Full Text] [Related]
19. 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 Jul; 86(7):3171-5. PubMed ID: 11443184
[TBL] [Abstract][Full Text] [Related]
20. 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 May; 25(5):502-3. PubMed ID: 15841486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
