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
Specific Signal Transduction of Constitutively Activating (D576G) and Inactivating (R476H) Mutants of Agonist-Stimulated Luteinizing Hormone Receptor in Eel.
Choi SH et al.
International Journal of Molecular Sciences, 2023
Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Kooij CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
Flippo C et al.
Journal of the Endocrine Society, 2022
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
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
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation.
Daussac A et al.
Endocrine Research, 2020
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Constitutive luteinizing hormone receptor signaling causes sexual dysfunction and Leydig cell adenomas in male mice.
Hai L et al.
Biology of Reproduction, 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
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
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
Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.
Boot AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Contributions of intracellular loops 2 and 3 of the lutropin receptor in Gs coupling.
Angelova K et al.
Molecular Endocrinology (baltimore, Md.), 2008
A functional transmembrane complex: the luteinizing hormone receptor with bound ligand and G protein.
Puett D et al.
Molecular and Cellular Endocrinology, 2007
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
Venous sampling can be crucial in identifying the testicular origin of idiopathic male luteinising hormone-independent sexual precocity.
Richter-Unruh A et al.
European Journal of Pediatrics, 2002
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
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.
Leschek EW et al.
The Journal of Pediatrics, 2001
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
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
Structural basis of G protein-coupled receptor function.
Schöneberg T et al.
Molecular and Cellular Endocrinology, 1999
Role of the third intracellular loop for the activation of gonadotropin receptors.
Schulz A et al.
Molecular Endocrinology (baltimore, Md.), 1999
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
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
Inactive and active states and supramolecular organization of GPCRs: insights from computational modeling.
Fanelli F et al.
Journal of Computer-aided Molecular Design, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0