Associated Papers
LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.
Barnabas R et al.
Endocrine Connections, 2024
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 2024
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2022
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Molecular chaperones and G protein-coupled receptor maturation and pharmacology.
Tao YX
Molecular and Cellular Endocrinology, 2020
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
Yan M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
[Clinical features and INS mutations of an infant with neonatal diabetes mellitus].
Luo YF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.
Zielen AC et al.
Clinical Genetics, 2018
Pharmacoperones for Misfolded Gonadotropin Receptors.
Newton CL et al.
Handbook of Experimental Pharmacology, 2018
Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.
Ulloa-Aguirre A et al.
Handbook of Experimental Pharmacology, 2018
Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.
Newton CL et al.
Endocrinology, 2016
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.
Ben Hadj Hmida I et al.
Fertility and Sterility, 2016
Dissecting the structural and functional features of the Luteinizing hormone receptor using receptor specific single chain fragment variables.
Dhar N et al.
Molecular and Cellular Endocrinology, 2016
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation.
Charmandari E et al.
Molecular Endocrinology (baltimore, Md.), 2016
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
Rivero-Müller A et al.
European Journal of Endocrinology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.
Ulloa-Aguirre A et al.
Molecular and Cellular Endocrinology, 2014
Regulatory processes governing the cell surface expression of LH and FSH receptors.
Segaloff DL
Sub-cellular Biochemistry, 2012
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
Yariz KO et al.
Fertility and Sterility, 2011
Genes governing premature ovarian failure.
Dixit H et al.
Reproductive Biomedicine Online, 2010
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.
Qiao J et al.
Human Mutation, 2009
Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.
Arnhold IJ et al.
Hormone Research, 2009
Gonadotrophin resistance.
Huhtaniemi I et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
Association of human follitropin (FSH) receptor with splicing variant of human lutropin/choriogonadotropin receptor negatively controls the expression of human FSH receptor.
Yamashita S et al.
Molecular Endocrinology (baltimore, Md.), 2005
[Leydig cell hypoplasia].
Latronico AC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.
Leung MY et al.
American Journal of Medical Genetics. Part A, 2004
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
Intracellularly located misfolded glycoprotein hormone receptors associate with different chaperone proteins than their cognate wild-type receptors.
Mizrachi D et al.
Molecular Endocrinology (baltimore, Md.), 2004
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
Martens JW et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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
Ovarian differentiation and gonadal failure.
Simpson JL et al.
American Journal of Medical Genetics, 1999
Clinical features of women with resistance to luteinizing hormone.
Arnhold IJ et al.
Clinical Endocrinology, 1999
Differential modulation of agonist potency and receptor coupling by mutations of Ser388Tyr and Thr389Pro at the junction of transmembrane domain VI and the third extracellular loop of human M(1) muscarinic acetylcholine receptors.
Huang XP et al.
Molecular Pharmacology, 1999
Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.
Arnhold IJ et al.
Fertility and Sterility, 1999
Single-gene mutations resulting in reproductive dysfunction in women.
Adashi EY et al.
The New England Journal of Medicine, 1999
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.
Martens JW et al.
Molecular Endocrinology (baltimore, Md.), 1998
A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.
Latronico AC et al.
Molecular Endocrinology (baltimore, Md.), 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
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
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.
Conway GS
Clinical Endocrinology, 1996
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
Kremer H et al.
Nature Genetics, 1995
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0