Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Successful Live Birth Outcome in A Patient with Empty Follicle Syndrome: A Case Report and Literature Review.
Hong F et al.
Reproductive Sciences (thousand Oaks, Calif.), 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S et al.
American Journal of Human Genetics, 2025
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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
Hassan HA et al.
Hormones (athens, Greece), 2024
Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.
Xu Y et al.
The Journal of Obstetrics and Gynaecology Research, 2023
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
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
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation.
Charmandari E et al.
Molecular Endocrinology (baltimore, Md.), 2016
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
Vezzoli V et al.
Human Molecular Genetics, 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
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.
Kossack N et al.
Molecular and Cellular Endocrinology, 2013
Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor.
Han B et al.
Molecular Human Reproduction, 2012
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
46,XY DSD due to impaired androgen production.
Mendonca BB et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
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
Mutations in human gonadotropin and gonadotropin-receptor genes.
Huhtaniemi IT et al.
Endocrine, 2005
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain.
Salameh W et al.
Molecular and Cellular Endocrinology, 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
Structural aspects of luteinizing hormone receptor: information from molecular modeling and mutagenesis.
Fanelli F et al.
Endocrine, 2002
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
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
Functional role of transmembrane helix 7 in the activation of the heptahelical lutropin receptor.
Angelova K et al.
Molecular Endocrinology (baltimore, Md.), 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
Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.
Arnhold IJ et al.
Fertility and Sterility, 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
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
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
Laue LL et al.
Molecular Endocrinology (baltimore, Md.), 1996