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
Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.
Duan J et al.
Nature Communications, 2023
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Kooij CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation.
Soriano-Guillen L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis.
Jeha GS et al.
The Journal of Pediatrics, 2006
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty.
Soriano-Guillén L et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
Martens JW et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
Latronico AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes.
Latronico AC et al.
Clinical Endocrinology, 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
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
Latronico AC et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.
Laue L et al.
Biochemical and Molecular Medicine, 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
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.
Laue L et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995
TESTOTOXICOSIS WITH AN EPISODIC COURSE: AN UNUSUAL CASE WITHIN A SERIES.
Nabhan ZM et al.
Aace Clinical Case Reports, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0