Dose-dependent shift from repressor to activator in a DAX-1 variant from a female with adrenal hypoplasia congenita.

被引：0
作者：
Bowling, BD
Wilson, JJ
Bernard, P
Dinulos, MB
Phelan, J
McCabe, EB
Vilain, E
机构：
[1] Univ Calif Los Angeles, Los Angeles, CA USA
[2] Dartmouth, Hanover, NH USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
904
引用
收藏
页码：327 / 327
页数：1
相关论文
共 50 条
  • [41] EXPRESSION OF DAX-1, THE GENE RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM, IN THE HYPOTHALAMIC-PITUITARY-ADRENAL GONADAL AXIS
    GUO, WW
    BURRIS, TP
    MCCABE, ERB
    BIOCHEMICAL AND MOLECULAR MEDICINE, 1995, 56 (01) : 8 - 13
  • [42] 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
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (10) : 3680 - 3685
  • [43] Novel DAX-1 Mutation in a Boy with X-Linked Adrenal Hypoplasia Congenita: Clinical Spectrum, Differential Diagnosis, Genetic Discussion and Unusual Presentation
    Vandenbriele, Christophe
    Van Eldere, Stefaan
    De Zegher, Francis
    Francois, Inge
    ACTA CLINICA BELGICA, 2010, 65 (06): : 458 - 458
  • [44] 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 β-subunit gene promoter activity
    Okuhara, Koji
    Abe, Shuji
    Kondo, Takuma
    Fujita, Keinosuke
    Koda, Noya
    Mochizuki, Hiroshi
    Fujieda, Kenji
    Tajima, Toshihiro
    ENDOCRINE JOURNAL, 2008, 55 (01) : 97 - 103
  • [45] Identification of novel mutations in the DAX1 gene from two patients with adrenal hypoplasia congenita: implications for structure and function.
    George, PM
    Potter, HC
    Espiner, EA
    CLINICAL CHEMISTRY, 2000, 46 (06) : A211 - A211
  • [46] 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
    MOLECULAR ENDOCRINOLOGY, 2003, 17 (04) : 507 - 519
  • [47] X-linked adrenal hypoplasia congenita (AHC) due to a novel 4-bp deletion in exon 2 of DAX-1 (NR0B1)
    Ali, Johari Mohd
    Chin, Long Kha
    Harun, Fatimah
    HORMONE RESEARCH, 2008, 70 : 242 - 242
  • [48] Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
    Iughetti, Lorenzo
    Lucaccioni, Laura
    Bruzzi, Patrizia
    Ciancia, Silvia
    Bigi, Elena
    Madeo, Simona Filomena
    Predieri, Barbara
    Roucher-Boulez, Florence
    BMC MEDICAL GENETICS, 2019, 20
  • [49] 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
    MOLECULAR ENDOCRINOLOGY, 2004, 18 (06) : 1428 - 1437
  • [50] 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, Junguo
    Oakley, Robert H.
    Cidlowski, John A.
    MOLECULAR ENDOCRINOLOGY, 2008, 22 (07) : 1521 - 1534
12345