Normal testicular function without detectable follicle-stimulating hormone. A novel mutation in the follicle-stimulating hormone receptor gene leading to apparent constitutive activity and impaired agonist-induced desensitization and internalization

2012 ◽  
Vol 364 (1-2) ◽  
pp. 71-82 ◽  
Author(s):  
Patricia Casas-González ◽  
Hugo E. Scaglia ◽  
Marco A. Pérez-Solís ◽  
Guillaume Durand ◽  
Javier Scaglia ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Follicle Stimulating Hormone ◽  
Testicular Function ◽  
Constitutive Activity ◽  
Hormone Receptor Gene ◽  
Stimulating Hormone

scholarly journals The Effect of a Null Mutation in the Follicle-Stimulating Hormone Receptor Gene on Mouse Reproduction1

Endocrinology ◽  
2000 ◽  
Vol 141 (5) ◽  
pp. 1795-1803 ◽  
Author(s):  
Margaret H. Abel ◽  
Alison N. Wootton ◽  
Vivienne Wilkins ◽  
Ilpo Huhtaniemi ◽  
Philip G. Knight ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Receptor Gene ◽  
Follicle Stimulating Hormone ◽  
Null Mutation ◽  
Hormone Receptor Gene ◽  
Stimulating Hormone

A Novel Mutation in the Thyrotropin (Thyroid-Stimulating Hormone) Receptor Gene in a Case of Congenital Hypothyroidism

Thyroid ◽  
2006 ◽  
Vol 16 (12) ◽  
pp. 1303-1309 ◽  
Author(s):  
A. Jeziorowska ◽  
B. Pniewska-Siark ◽  
E. Brzeziańska ◽  
D. Pastuszak-Lewandoska ◽  
A. Lewiński
Keyword(s):  
Congenital Hypothyroidism ◽  
Hormone Receptor ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Thyroid Stimulating Hormone ◽  
Hormone Receptor Gene ◽  
Stimulating Hormone

Follicle-Stimulating Hormone Receptor Gene Haplotypes and Male Infertility in Estonian Population and Meta-Analysis

2010 ◽  
Vol 56 (1) ◽  
pp. 84-90 ◽  
Author(s):  
Ave Kris Lend ◽  
Anastasia Belousova ◽  
Kadri Haller-Kikkatalo ◽  
Margus Punab ◽  
Olev Poolamets ◽  
...  
Keyword(s):  
Male Infertility ◽  
Hormone Receptor ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Follicle Stimulating Hormone ◽  
Estonian Population ◽  
Hormone Receptor Gene ◽  
Stimulating Hormone

scholarly journals Mutation of the Follicle-Stimulating Hormone Receptor Gene 5′-Untranslated Region Associated With Female Hypertension

Hypertension ◽  
2006 ◽  
Vol 48 (3) ◽  
pp. 512-518 ◽  
Author(s):  
Tomohiro Nakayama ◽  
Nobuhiro Kuroi ◽  
Morihiko Sano ◽  
Yasuharu Tabara ◽  
Tomohiro Katsuya ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Untranslated Region ◽  
Receptor Gene ◽  
Follicle Stimulating Hormone ◽  
Hormone Receptor Gene ◽  
Stimulating Hormone
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