Associated Papers
Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene.
Shahid A et al.
Jpma. the Journal of the Pakistan Medical Association, 2023
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Kooij CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Constitutively Activating Mutants of Equine LH/CGR Constitutively Induce Signal Transduction and Inactivating Mutations Impair Biological Activity and Cell-Surface Receptor Loss In Vitro.
Byambaragchaa M et al.
International Journal of Molecular Sciences, 2021
Constitutive Activating Eel Luteinizing Hormone Receptors Induce Constitutively Signal Transduction and Inactivating Mutants Impair Biological Activity.
Byambaragchaa M et al.
Development & Reproduction, 2021
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation.
Daussac A et al.
Endocrine Research, 2020
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.
Cunha-Silva M et al.
Human Reproduction (oxford, England), 2018
Germ Cell Neoplasia in Situ and Preserved Fertility Despite Suppressed Gonadotropins in a Patient With Testotoxicosis.
Juel Mortensen L et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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
Dissecting the structural and functional features of the Luteinizing hormone receptor using receptor specific single chain fragment variables.
Dhar N et al.
Molecular and Cellular Endocrinology, 2016
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Precocious puberty and Leydig cell hyperplasia in male mice with a gain of function mutation in the LH receptor gene.
McGee SR et al.
Endocrinology, 2013
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty.
Eyssette-Guerreau S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
Hereditary hormone excess: genes, molecular pathways, and syndromes.
Marx SJ et al.
Endocrine Reviews, 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
A constitutively active somatic mutation of the human lutropin receptor found in Leydig cell tumors activates the same families of G proteins as germ line mutations associated with Leydig cell hyperplasia.
Hirakawa T et al.
Endocrinology, 2003
Desensitization of Gs-coupled receptor signaling by constitutively active mutants of the human lutropin/choriogonadotropin receptor.
Shinozaki H et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
Activation of the luteinizing hormone receptor following substitution of Ser-277 with selective hydrophobic residues in the ectodomain hinge region.
Nakabayashi K et al.
The Journal of Biological Chemistry, 2000
The three subfamilies of leucine-rich repeat-containing G protein-coupled receptors (LGR): identification of LGR6 and LGR7 and the signaling mechanism for LGR7.
Hsu SY et al.
Molecular Endocrinology (baltimore, Md.), 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
The nematode leucine-rich repeat-containing, G protein-coupled receptor (LGR) protein homologous to vertebrate gonadotropin and thyrotropin receptors is constitutively active in mammalian cells.
Kudo M et al.
Molecular Endocrinology (baltimore, Md.), 2000
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.
Liu G et al.
The New England Journal of Medicine, 1999
A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity.
Wu SM et al.
Molecular Genetics and Metabolism, 1999
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
An anionic residue at position 564 is important for maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor.
Kosugi S et al.
Molecular Pharmacology, 1998
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
Müller J et al.
Journal of Medical Genetics, 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
The role of Asp578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor.
Kosugi S et al.
The Journal of Biological Chemistry, 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
Absence of activating mutations in the hot spots of the LH receptor and Gs-alpha genes in Leydig cell tumors.
Vieira TC et al.
Journal of Endocrinological Investigation, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0