Associated Papers
Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.
Ha J et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.
Zhang N et al.
Endocrine Reviews, 2023
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
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Familial male-limited precocious puberty in neurofibromatosis type I.
Lim YY et al.
European Journal of Pediatrics, 2014
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
Study of the family of a patient with male-limited precocious puberty (MPP) due to T1193C transition in exon 11 of LH receptor gene.
Ignacak M et al.
Journal of Endocrinological Investigation, 2002
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
Functional role of transmembrane helix 7 in the activation of the heptahelical lutropin receptor.
Angelova K et al.
Molecular Endocrinology (baltimore, Md.), 2000
Theoretical study on mutation-induced activation of the luteinizing hormone receptor.
Fanelli F
Journal of Molecular Biology, 2000
Luteinizing hormone receptor mutations in disorders of sexual development and cancer.
Wu SM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Phe576 plays an important role in the secondary structure and intracellular signaling of the human luteinizing hormone/chorionic gonadotropin receptor.
Yano K et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.
Laue L et al.
Biochemical and Molecular Medicine, 1996
Luteinizing hormone receptor mutations and sex differentiation.
Themmen AP et al.
European Journal of Endocrinology, 1996
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 new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.
Yano K et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0