Associated Papers
Genomic profiling of urological malignancies using tissue-based next generation sequencing.
Alruwaii ZI et al.
Urologic Oncology, 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 syndromes associated with testicular and paratesticular neoplasms: a comprehensive review.
Strakova-Peterikova A et al.
Virchows Archiv : an International Journal of Pathology, 2024
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
Constitutive Activating Eel Luteinizing Hormone Receptors Induce Constitutively Signal Transduction and Inactivating Mutants Impair Biological Activity.
Byambaragchaa M et al.
Development & Reproduction, 2021
The intramolecular agonist is obligate for activation of glycoprotein hormone receptors.
Schulze A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
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
[Familial male-limited precocious puberty due to Asp578His mutations in the LHCGR gene: clinical characteristics and gene analysis in an infant].
Wang M et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
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
The Activation Mechanism of Glycoprotein Hormone Receptors with Implications in the Cause and Therapy of Endocrine Diseases.
Brüser A et al.
The Journal of Biological Chemistry, 2016
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
Leydig cell tumor in a patient with 49,XXXXY karyotype: a review of literature.
Maqdasy S et al.
Reproductive Biology and Endocrinology : Rb&e, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Characterization of G protein coupling mediated by the conserved D134(3.49) of DRY motif, M241(6.34), and F251(6.44) residues on human CXCR1.
Han X et al.
Febs Open Bio, 2015
Genetic Models for the Study of Luteinizing Hormone Receptor Function.
Narayan P
Frontiers in Endocrinology, 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
Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls.
Olivier P et al.
The 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
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
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
A constitutively active mutant of the human lutropin receptor (hLHR-L457R) escapes lysosomal targeting and degradation.
Galet C et al.
Molecular Endocrinology (baltimore, Md.), 2006
A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty.
d'Alva CB et al.
Clinical Endocrinology, 2006
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Carvajal-Carmona LG 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
Zero-length cross-linking reveals that tight interactions between the extracellular and transmembrane domains of the luteinizing hormone receptor persist during receptor activation.
Karges B et al.
Molecular Endocrinology (baltimore, Md.), 2005
Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing.
Munshi UM et al.
Molecular Endocrinology (baltimore, Md.), 2005
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
Bastepe M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
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
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
Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors.
Canto P et al.
American Journal of Medical Genetics, 2002
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
A free carboxylate oxygen in the side chain of position 674 in transmembrane domain 7 is necessary for TSH receptor activation.
Neumann S et al.
Molecular Endocrinology (baltimore, Md.), 2001
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 2001
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
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
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