Associated Papers
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
Cell-Surface Loss of Constitutive Activating and Inactivating Mutants of Eel Luteinizing Hormone Receptors.
Byambaragchaa M et al.
Development & Reproduction, 2021
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
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.
Cunha-Silva M et al.
Human Reproduction (oxford, England), 2018
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
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
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
Decreased degradation of internalized follicle-stimulating hormone caused by mutation of aspartic acid 6.30(550) in a protein kinase-CK2 consensus sequence in the third intracellular loop of human follicle-stimulating hormone receptor.
Kluetzman KS et al.
Biology of Reproduction, 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
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
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
The formation of a salt bridge between helices 3 and 6 is responsible for the constitutive activity and lack of hormone responsiveness of the naturally occurring L457R mutation of the human lutropin receptor.
Zhang M et al.
The Journal of Biological Chemistry, 2005
Clinical and molecular analysis of human reproductive disorders in Brazilian patients.
Latronico AC et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 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
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
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
Pleiotropic effects of substitutions of a highly conserved leucine in transmembrane helix III of the human lutropin/choriogonadotropin receptor with respect to constitutive activation and hormone responsiveness.
Shinozaki H et al.
Molecular Endocrinology (baltimore, Md.), 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
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
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0