The growth hormone receptor in growth

被引：15
作者：
Bougneres, Pierre
Goffin, Vincent
机构：
[1] Hop St Vincent de Paul, INSERM, Dept Pediat Endocrinol, Unit 561, F-75014 Paris, France
[2] Fac Med Necker Enfants Malad, INSERM, Unit 808, F-75015 Paris, France
[3] Univ Paris 05, F-75270 Paris, France
来源：
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2007年 / 36卷 / 01期
关键词：
D O I：
10.1016/j.ecl.2006.08.003
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The growth hormone receptor (GHR) is a major effector of human growth. Functional variants of the GHR include very rare loss-of-function mutations (pathology) and very common polymorphisms (physiology). Recent experimental data have clarified the mechanisms through which mutations of the GHR or Stat5 lead to growth hormone insensitivity and major monogenic growth defects. Recent pharmacogenetic studies support that the response to growth-promoting administration of growth hormone is influenced by exon 3 polymorphism of the GHR.
引用
收藏
页码：1 / +
页数：17
相关论文
共 77 条
[1]   IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation [J].
Abuzzahab, MJ ;
Schneider, A ;
Goddard, A ;
Grigorescu, F ;
Lautier, C ;
Keller, E ;
Kiess, W ;
Klammt, J ;
Kratzsch, J ;
Osgood, D ;
Pfäffle, R ;
Raile, K ;
Seidel, B ;
Smith, RJ ;
Chernausek, SD ;
Frank, GR ;
Kaplowitz, PB ;
Pescovitz, OH ;
Smith, EP .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (23) :2211-2222
[2]   IDENTIFICATION OF JAK2 AS A GROWTH-HORMONE RECEPTOR-ASSOCIATED TYROSINE KINASE [J].
ARGETSINGER, LS ;
CAMPBELL, GS ;
YANG, XN ;
WITTHUHN, BA ;
SILVENNOINEN, O ;
IHLE, JN ;
CARTERSU, C .
CELL, 1993, 74 (02) :237-244
[3]   Mechanism of signaling by growth hormone receptor [J].
Argetsinger, LS ;
CarterSu, C .
PHYSIOLOGICAL REVIEWS, 1996, 76 (04) :1089-1107
[4]   A dominant-negative mutation of the growth hormone receptor causes familial short stature [J].
Ayling, RM ;
Ross, R ;
Towner, P ;
VonLaue, S ;
Finidori, J ;
Moutoussamy, S ;
Buchanan, CR ;
Clayton, PE ;
Norman, MR .
NATURE GENETICS, 1997, 16 (01) :13-14
[5]   Determination of the energetics governing the regulatory step in growth hormone-induced receptor homodimerization [J].
Bernat, B ;
Pal, G ;
Sun, M ;
Kossiakoff, AA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (03) :952-957
[6]   The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in turner syndrome and short small-for-gestational-age children [J].
Binder, G ;
Baur, F ;
Schweizer, R ;
Ranke, MB .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (02) :659-664
[7]  
BLUM WF, 2005, ESPE LWPES 7 JOINT M, P3
[8]  
BLUM WF, 2005, HORM RES S1, V64, P1
[9]   Model for growth hormone receptor activation based on subunit rotation within a receptor dimer [J].
Brown, RJ ;
Adams, JJ ;
Pelekanos, RA ;
Wan, Y ;
McKinstry, WJ ;
Palethorpe, K ;
Seeber, RM ;
Monks, TA ;
Eidne, KA ;
Parker, MW ;
Waters, MJ .
NATURE STRUCTURAL & MOLECULAR BIOLOGY, 2005, 12 (09) :814-821
[10]   Control of growth by the somatropic axis: Growth hormone and the insulin-like growth factors have related and independent roles [J].
Butler, AA ;
Le Roith, D .
ANNUAL REVIEW OF PHYSIOLOGY, 2001, 63 :141-164
12345678