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Items: 1 to 20 of 137

1.

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 Dec;11(13):1950-60.

PMID:
9415399
2.
4.

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 Aug;13(8):1267-84.

PMID:
10446902
6.

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 Jan;87(1):44-8.

PMID:
11788621
8.

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.

PMID:
17054473
9.

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 Mar 17;275(11):7662-7.

10.

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 Jul;20(13):4910-21.

12.

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.

PMID:
9360549
13.

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 11;99(12):8225-30. Epub 2002 May 28.

15.

Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.

Lehmann SG, Wurtz JM, Renaud JP, Sassone-Corsi P, Lalli E.

Hum Mol Genet. 2003 May 1;12(9):1063-72.

PMID:
12700175
16.

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings.

Calvari V, Alpigiani MG, Poggi E, Podesta B, Camerino G, Lorini R.

J Endocrinol Invest. 2006 Jan;29(1):41-7.

PMID:
16553032
17.

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.

PMID:
11443184
18.

Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, Pagon RA, McCabe ER.

J Clin Endocrinol Metab. 1996 Jul;81(7):2481-6.

PMID:
8675564
19.

DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Kinoshita E, Yoshimoto M, Motomura K, Kawaguchi T, Mori R, Baba T, Nishijo K, Hasegawa T, Momoi T, Yorihuji T.

Horm Res. 1997;48(1):29-34.

PMID:
9195207
20.

Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Hamaguchi K, Arikawa M, Yasunaga S, Kakuma T, Fukagawa K, Yanase T, Nawata H, Sakata T.

Am J Med Genet. 1998 Feb 26;76(1):62-6.

PMID:
9508067

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