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
Comprehensive Analysis of Damage Associated SNPs of Luteinizing Hormone and Its Receptor: A Computational Approach.
Bhatnager R et al.
American Journal of Reproductive Immunology (new York, N.y. : 1989), 2024
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
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
Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.
Byambaragchaa M et al.
Animal Bioscience, 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
A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
Gurnurkar S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Constitutive LH receptor activity impairs NO-mediated penile smooth muscle relaxation.
Hiremath DS et al.
Reproduction (cambridge, England), 2021
Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty.
Finkle A et al.
Journal of Developmental and Behavioral Pediatrics : Jdbp, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation.
Daussac A et al.
Endocrine Research, 2020
A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome.
Cornacchia MA et al.
Journal of the Endocrine Society, 2018
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
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
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
Genetic Models for the Study of Luteinizing Hormone Receptor Function.
Narayan P
Frontiers in Endocrinology, 2015
Gonadotrophin-independent precocious puberty associated with later diagnosis of testicular embryonal carcinoma.
Senniappan S et al.
Hormone Research in Paediatrics, 2014
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
Revisiting and questioning functional rescue between dimerized LH receptor mutants.
Zhang M et al.
Molecular Endocrinology (baltimore, Md.), 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
[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
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Constitutively active luteinizing hormone receptors: consequences of in vivo expression.
Meehan TP et al.
Molecular and Cellular Endocrinology, 2007
Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.
Lania AG et al.
Nature Clinical Practice. Endocrinology & 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
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
Molecular abnormalities of FSH and LH action.
McDonough PG
Annals of the New York Academy of Sciences, 2003
Structural requirements for mutational lutropin/choriogonadotropin receptor activation.
Sangkuhl K et al.
The Journal of Biological Chemistry, 2002
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
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
[Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].
Yamoto M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 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
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
Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction.
Latronico AC
Seminars in Reproductive Medicine, 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
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