Associated Papers
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis.
Siviero-Miachon AA et al.
Endocrine Research, 2017
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Özcabı B et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
[A report of familial male-limited precocious puberty caused by a germ-line heterozygous mutation (M398T) in luteinizing hormone receptor gene].
Mao JF et al.
Zhonghua Nei Ke Za Zhi, 2010
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Ringkananont U et al.
Molecular Endocrinology (baltimore, Md.), 2006
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
Theoretical study on mutation-induced activation of the luteinizing hormone receptor.
Fanelli F
Journal of Molecular Biology, 2000
Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs.
Abell AN et al.
Molecular Endocrinology (baltimore, Md.), 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene.
Yano K et al.
Biochemical and Biophysical Research Communications, 1996
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
Cocco S et al.
Human Mutation, 1996
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
Kremer H et al.
Nature Genetics, 1995
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
Kosugi S et al.
Human Molecular Genetics, 1995
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0