Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.N312S
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LHCGR

NM_000233.4:p.N312S

Associated Papers

Pharmacogenetic analysis using artificial intelligence (AI) to identify polymorphisms associated with sub-optimal ovarian response and hyper-response.

Ortiz JA et al.

Journal of Assisted Reproduction and Genetics, 2025

A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.

Perez-Dionisio E et al.

Archives of Endocrinology and Metabolism, 2025

Association of LHCGR rs2293275 genotype with ovarian aging in Chinese women: a multicenter population-based study.

Ma W et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

Associations between Luteinizing Hormone/Chorionic Gonadotropin Receptor Polymorphisms and Assisted Reproductive Technology Outcomes: A Systematic Review and Meta-Analysis.

Tang T et al.

Gynecologic and Obstetric Investigation, 2025

Prevalence and genetic etiology of poly-cystic ovarian syndrome (PCOS) in Mauritania.

Elwafi M et al.

Frontiers in Reproductive Health, 2025

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

Significance of FSHR and LHCGR gene polymorphisms on clinical outcomes in gonadotropin-releasing hormone antagonist protocol with freeze-all strategy: A case-control study.

Amin J et al.

International Journal of Reproductive Biomedicine, 2024

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

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.

Ha J et al.

Annals of Pediatric Endocrinology & Metabolism, 2024

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

Singh S et al.

Bmc Endocrine Disorders, 2022

Gonadotropin receptor polymorphisms (FSHR N680S and LHCGR N312S) are not predictive of clinical outcome and live birth in assisted reproductive technology.

Pirtea P et al.

Fertility and Sterility, 2022

Involvement of single nucleotide polymorphisms in ovarian poor response.

Ghaderian SMH et al.

Journal of Assisted Reproduction and Genetics, 2021

Associations of FSHR and LHCGR gene variants with ovarian reserve and clinical pregnancy rates.

Guo C et al.

Reproductive Biomedicine Online, 2021

One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples' Journey.

D'Argenio V et al.

Genes, 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__

Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus.

Conforti A et al.

Frontiers in Endocrinology, 2021

Identification of most damaging nsSNPs in human CCR6 gene: In silico analyses.

Akhtar M et al.

International Journal of Immunogenetics, 2019

LHCGR Gene Analysis in Girls with Non-Classic Central Precocious Puberty.

Jeong HR et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019

Gonadotropin receptor variants are linked to cumulative live birth rate after in vitro fertilization.

Lindgren I et al.

Journal of Assisted Reproduction and Genetics, 2019

Role of Lh polymorphisms and r-hLh supplementation in GnRh agonist treated ART cycles: A cross sectional study.

G A R et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2018

Pharmacogenomics of GPCR Drug Targets.

Hauser AS et al.

Cell, 2018

29249361 (PubMed )
Supplement: mmc2.xlsx › MissenseVariants

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

The carriers of the A/G-G/G allelic combination of the c.2039 A>G and c.-29 G>A FSH receptor polymorphisms retrieve the highest number of oocytes in IVF/ICSI cycles.

Allegra A et al.

Journal of Assisted Reproduction and Genetics, 2017

Association between polymorphisms in sex hormones synthesis and metabolism and prostate cancer aggressiveness.

Robles-Fernandez I et al.

Plos One, 2017

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Disciglio V et al.

Chinese Journal of Cancer, 2016

27267075 (PubMed )
Supplement: 40880_2016_115_MOESM5_ESM.xlsx › Table_S5

Combined assessment of polymorphisms in the LHCGR and FSHR genes predict chance of pregnancy after in vitro fertilization.

Lindgren I et al.

Human Reproduction (oxford, England), 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.

Santos-Ribeiro S et al.

Journal of Assisted Reproduction and Genetics, 2015

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

Kristiansen W et al.

International Journal of Andrology, 2012

[A report of familial male-limited precocious puberty caused by a germ-line heterozygous mutation (M398T) in luteinizing hormone receptor gene].

Mao JF et al.

Zhonghua Nei Ke Za Zhi, 2010

Treatment of familial male-limited precocious puberty (testotoxicosis) with anastrozole and bicalutamide in a boy with a novel mutation in the luteinizing hormone receptor.

Mitre N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.

Matsushima N et al.

Cellular and Molecular Life Sciences : Cmls, 2005

An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.

Themmen AP

Reproduction (cambridge, England), 2005

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

Mongan NP et al.

European Journal of Endocrinology, 2002

Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.

Athanasoulia AP et al.

Hormones (athens, Greece), 0

Evaluation of the Prevalence of Exons 1 And 10 Polymorphisms of LHCGR Gene and Its Relationship with IVF Success.

Javadi-Arjmand M et al.

Journal of Reproduction & Infertility, 0

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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."