Associated Papers
The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.
Xie D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Long-Term Treatment With Letrozole in a Boy With Familial Male-Limited Precocious Puberty.
Yuan X et al.
Frontiers in Endocrinology, 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
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
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
Infertility in Female Mice with a Gain-of-Function Mutation in the Luteinizing Hormone Receptor Is Due to Irregular Estrous Cyclicity, Anovulation, Hormonal Alterations, and Polycystic Ovaries.
Hai L et al.
Biology of Reproduction, 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
[A Chinese boy with familial male-confined precocious puberty caused by a mutation Ala568Val in LHCGR gene].
Chen RM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
[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
Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.
Nagasaki K et al.
Endocrine Journal, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis.
Eunice M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
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
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
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
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.
Richter-Unruh A et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Insight into mutation-induced activation of the luteinizing hormone receptor: molecular simulations predict the functional behavior of engineered mutants at M398.
Fanelli F et al.
Molecular Endocrinology (baltimore, Md.), 2004
Structural aspects of luteinizing hormone receptor: information from molecular modeling and mutagenesis.
Fanelli F et al.
Endocrine, 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
Japanese familial patients with male-limited precocious puberty.
Shinagawa T et al.
Endocrine Journal, 2000
Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty.
Ignacak M et al.
Endocrine Journal, 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
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
[Familial male-limited precocious puberty].
Katsumata N et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997
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
[Genetically determined familial male limited precocious puberty].
Ignacak M et al.
Ginekologia Polska, 1997
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.
Conway GS
Clinical 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
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0