Genetic defects of the growth hormone-insulin-like growth factor axis

被引:35
作者
López-Bermejo, A [1 ]
Buckway, CK [1 ]
Rosenfeld, RG [1 ]
机构
[1] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1016/S1043-2760(99)00226-X
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Our understanding of the physiology of the growth hormone-insulin-like growth factor (GH-IGF) axis has been characterized by remarkable advances in the past decade, with clarification of genetic defects in the development of somatotropes, GH secretion and action, and IGF synthesis and action. Combined efforts of research in this area and the development of animal models of growth retardation have also indicated new genetic abnormalities that might prove to cause short stature in humans. Genetic defects, both established and hypothetical, ave reviewed, and a pragmatic clinical approach to the generic investigation of short-statured patients is presented.
引用
收藏
页码:39 / 49
页数:11
相关论文
共 84 条
[41]   Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene [J].
Lamonerie, T ;
Tremblay, JJ ;
Lanctot, C ;
Therrien, M ;
Gauthier, Y ;
Drouin, J .
GENES & DEVELOPMENT, 1996, 10 (10) :1284-1295
[42]   Gsh-1, an orphan Hox gene, is required for normal pituitary development [J].
Li, H ;
Zeitler, PS ;
Valerius, MT ;
Small, K ;
Potter, SS .
EMBO JOURNAL, 1996, 15 (04) :714-724
[43]   GSH-4 ENCODES A LIM-TYPE HOMEODOMAIN, IS EXPRESSED IN THE DEVELOPING CENTRAL-NERVOUS-SYSTEM AND IS REQUIRED FOR EARLY POSTNATAL SURVIVAL [J].
LI, H ;
WITTE, DP ;
BRANFORD, WW ;
ARONOW, BJ ;
WEINSTEIN, M ;
KAUR, S ;
WERT, S ;
SINGH, G ;
SCHREINER, CM ;
WHITSETT, JA ;
SCOTT, WJ ;
POTTER, SS .
EMBO JOURNAL, 1994, 13 (12) :2876-2885
[44]   DWARF LOCUS MUTANTS LACKING 3 PITUITARY CELL-TYPES RESULT FROM MUTATIONS IN THE POU-DOMAIN GENE PIT-1 [J].
LI, S ;
CRENSHAW, EB ;
RAWSON, EJ ;
SIMMONS, DM ;
SWANSON, LW ;
ROSENFELD, MG .
NATURE, 1990, 347 (6293) :528-533
[45]   MOLECULAR-BASIS OF THE LITTLE MOUSE PHENOTYPE AND IMPLICATIONS FOR CELL-TYPE-SPECIFIC GROWTH [J].
LIN, SC ;
LIN, CJR ;
GUKOVSKY, I ;
LUSIS, AJ ;
SAWCHENKO, PE ;
ROSENFELD, MG .
NATURE, 1993, 364 (6434) :208-213
[46]   IDENTIFICATION OF A NOVEL ZINC-FINGER PROTEIN-BINDING A CONSERVED ELEMENT CRITICAL FOR PIT-1-DEPENDENT GROWTH-HORMONE GENE-EXPRESSION [J].
LIPKIN, SM ;
NAAR, AM ;
KALLA, KA ;
SACK, RA ;
ROSENFELD, MG .
GENES & DEVELOPMENT, 1993, 7 (09) :1674-1687
[47]   MICE CARRYING NULL MUTATIONS OF THE GENES ENCODING INSULIN-LIKE GROWTH FACTOR-I (IGF-1) AND TYPE-1 IGF RECEPTOR (IGF1R) [J].
LIU, JP ;
BAKER, J ;
PERKINS, AS ;
ROBERTSON, EJ ;
EFSTRATIADIS, A .
CELL, 1993, 75 (01) :59-72
[48]   Extensive phenotypic analysis of a family with Growth Hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene [J].
Netchine, I ;
Talon, P ;
Dastot, F ;
Vitaux, F ;
Goossens, M ;
Amselem, S .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (02) :432-436
[49]   Jak2 is essential for signaling through a variety of cytokine receptors [J].
Parganas, E ;
Wang, D ;
Stravopodis, D ;
Topham, DJ ;
Marine, JC ;
Teglund, S ;
Vanin, EF ;
Bodner, S ;
Colamonici, OR ;
van Deursen, JM ;
Grosveld, G ;
Ihle, JN .
CELL, 1998, 93 (03) :385-395
[50]   MUTATION OF THE POU-SPECIFIC DOMAIN OF PIT-1 AND HYPOPITUITARISM WITHOUT PITUITARY HYPOPLASIA [J].
PFAFFLE, RW ;
DIMATTIA, GE ;
PARKS, JS ;
BROWN, MR ;
WIT, JM ;
JANSEN, M ;
VANDERNAT, H ;
VANDENBRANDE, JL ;
ROSENFELD, MG ;
INGRAHAM, HA .
SCIENCE, 1992, 257 (5073) :1118-1121