Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.N291S
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LHCGR

NM_000233.4:p.N291S

Associated Papers

Impact of gonadotropin genetic profile and ovarian reserve on controlled ovarian stimulation: data from prospective cohort of the GENOCS trial.

Conforti A et al.

Frontiers in Endocrinology, 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

Association analysis of LHCGR variants and polycystic ovary syndrome in Punjab: a case-control approach.

Singh S et al.

Bmc Endocrine Disorders, 2022

A Case-Control Study of the Luteinizing Hormone Level in Luteinizing Hormone Receptor Gene (rs2293275) Polymorphism in Polycystic Ovarian Syndrome Females.

Atoum MF et al.

Public Health Genomics, 2022

Reduced FSH and LH action: implications for medically assisted reproduction.

Bosch E et al.

Human Reproduction (oxford, England), 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Polymorphism in the Alternative Donor Site of the Cryptic Exon of LHCGR: Functional Consequences and Associations with Testosterone Level.

Liu W et al.

Scientific Reports, 2017

Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.

Newton CL et al.

Endocrinology, 2016

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Targeted single molecule sequencing methodology for ovarian hyperstimulation syndrome.

Orkunoglu-Suer F et al.

Bmc Genomics, 2015

Functional genomics of PCOS: from GWAS to molecular mechanisms.

McAllister JM et al.

Trends in Endocrinology and Metabolism: Tem, 2015

Genetic variations associated with the effect of testicular cancer treatment on gonadal hormones.

Aschim EL et al.

Human Reproduction (oxford, England), 2014

The luteinizing hormone beta-subunit exon 3 (Gly102Ser) gene mutation and ovarian responses to controlled ovarian hyperstimulation.

Davar R et al.

Iranian Journal of Reproductive Medicine, 2014

Variations in testosterone pathway genes and susceptibility to testicular cancer in Norwegian men.

Kristiansen W et al.

International Journal of Andrology, 2012

The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population.

Capalbo A et al.

Clinical Endocrinology, 2012

Association of the genetic variants of luteinizing hormone, luteinizing hormone receptor and polycystic ovary syndrome.

Liu N et al.

Reproductive Biology and Endocrinology : Rb&e, 2012

Effects of polymorphisms in gonadotropin and gonadotropin receptor genes on reproductive function.

Casarini L et al.

Reviews in Endocrine & Metabolic Disorders, 2011

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Yariz KO et al.

Fertility and Sterility, 2011

Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.

Valkenburg O et al.

Human Reproduction (oxford, England), 2009

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility.

Simoni M et al.

Pharmacogenetics and Genomics, 2008

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset.

Powell BL et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation.

Mongan NP et al.

European Journal of Endocrinology, 2002

Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.

Arnhold IJ et al.

Fertility and Sterility, 1999

Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.

Laue L et al.

Biochemical and Molecular Medicine, 1996

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.

Laue LL et al.

Molecular Endocrinology (baltimore, Md.), 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."