Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

被引：107
作者：
Miller, WL [1 ]
机构：
[1] Univ Calif San Francisco, San Francisco, CA 94143 USA
来源：
JOURNAL OF MOLECULAR ENDOCRINOLOGY | 1997年 / 19卷 / 03期
关键词：
D O I：
10.1677/jme.0.0190227
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：227 / 240
页数：14
相关论文
共 82 条
[1]  
[Anonymous], WILLIAMS TXB ENDOCRI
[2]   Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: Implications for the mechanism of StAR action [J].
Arakane, F ;
Sugawara, T ;
Nishino, H ;
Liu, ZM ;
Holt, JA ;
Pain, D ;
Stocco, DM ;
Miller, WL ;
Strauss, JF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (24) :13731-13736
[3]   IDENTIFICATION OF DES-(GLY-ILE)-ENDOZEPINE AS AN EFFECTOR OF CORTICOTROPIN-DEPENDENT ADRENAL STEROIDOGENESIS - STIMULATION OF CHOLESTEROL DELIVERY IS MEDIATED BY THE PERIPHERAL BENZODIAZEPINE RECEPTOR [J].
BESMAN, MJ ;
YANAGIBASHI, K ;
LEE, TD ;
KAWAMURA, M ;
HALL, PF ;
SHIVELY, JE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (13) :4897-4901
[4]   THE MITOCHONDRIAL ENVIRONMENT IS REQUIRED FOR ACTIVITY OF THE CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME, CYTOCHROME P450SCC [J].
BLACK, SM ;
HARIKRISHNA, JA ;
SZKLARZ, GD ;
MILLER, WL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (15) :7247-7251
[5]   Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein [J].
Bose, HS ;
Pescovitz, OH ;
Miller, WL .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (05) :1511-1515
[6]   The pathophysiology and genetics of congenital lipoid adrenal hyperplasia [J].
Bose, HS ;
Sugawara, T ;
Strauss, JF ;
Miller, WL .
NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (25) :1870-1878
[7]   CAMP POSTTRANSCRIPTIONALLY DIMINISHES THE ABUNDANCE OF ADRENODOXIN REDUCTASE MESSENGER-RNA [J].
BRENTANO, ST ;
BLACK, SM ;
LIN, D ;
MILLER, WL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (09) :4099-4103
[8]  
Brutschy P., 1920, FRANKFURT Z PATHOL, V24, P203
[9]   CONGENITAL ADRENAL HYPERPLASIA DUE TO A DEFICIENCY OF ONE OF ENZYMES INVOLVED IN BIOSYNTHESIS OF PREGNENOLONE [J].
CAMACHO, AM ;
KOWARSKI, A ;
MIGEON, CJ ;
BROUGH, AJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1968, 28 (02) :153-+
[10]  
CHANDERBHAN R, 1982, J BIOL CHEM, V257, P8928
123456789