Varaico: Literature-Extracted Genetic Variants

Gene:MSH5
Variant:p.P29S
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MSH5

NM_172166.4:p.P29S

Associated Papers

The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.

Podgrajsek R et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

41257861 (PubMed )
Supplement: 12958_2025_1493_MOESM1_ESM.docx

Analysis of copy number variation in men with non-obstructive azoospermia.

Wyrwoll MJ et al.

Andrology, 2022

36041235 (PubMed )
Supplement: NIHMS1833267-supplement-supinfo2.pdf

Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.

Karimian M et al.

Expert Review of Molecular Diagnostics, 2021

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Shen J et al.

Journal of Assisted Reproduction and Genetics, 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4.

Lin M et al.

Andrology, 2020

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

Caja F et al.

International Journal of Molecular Sciences, 2020

32756484 (PubMed )
Supplement: ijms-21-05561-s001.zip › SNP_2.0_final.xls › MSH5

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s005.xlsx › S5

Loss of MutL Disrupts CHK2-Dependent Cell-Cycle Control through CDK4/6 to Promote Intrinsic Endocrine Therapy Resistance in Primary Breast Cancer.

Haricharan S et al.

Cancer Discovery, 2017

Mutations in MSH5 in primary ovarian insufficiency.

Guo T et al.

Human Molecular Genetics, 2017

The polymorphic hMSH5 C85T allele augments radiotherapy-induced spermatogenic impairment.

Zhu Y et al.

Andrology, 2016

Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure.

Su S et al.

Reproductive Biomedicine Online, 2016

Impact of DNA mismatch repair system alterations on human fertility and related treatments.

Hu MH et al.

Journal of Zhejiang University. Science. B, 2016

Spermatogenesis, DNA damage and DNA repair mechanisms in male infertility.

Gunes S et al.

Reproductive Biomedicine Online, 2015

Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.

Allen EG et al.

Frontiers in Genetics, 2014

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.

Clark N et al.

Current Genomics, 2013

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility.

Ji G et al.

Bmc Medicine, 2012

Major histocompatibility complex class I chain-related gene polymorphisms: associated with susceptibility to Kawasaki disease and coronary artery aneurysms.

Hsieh YY et al.

Genetic Testing and Molecular Biomarkers, 2011

The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility.

Carrell DT et al.

Systems Biology in Reproductive Medicine, 2011

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility.

Safarinejad MR et al.

Molecular Reproduction and Development, 2010

The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.

Xu K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Candidate variants at 6p21.33 and 6p22.1 and risk of non-small cell lung cancer in a Chinese population.

Zhang M et al.

International Journal of Molecular Epidemiology and Genetics, 2010

Evidence for a direct involvement of hMSH5 in promoting ionizing radiation induced apoptosis.

Tompkins JD et al.

Experimental Cell Research, 2009

Genetic investigation of four meiotic genes in women with premature ovarian failure.

Mandon-Pépin B et al.

European Journal of Endocrinology, 2008

MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.

Her C et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2007

Two variants of MutS homolog hMSH5: prevalence in humans and effects on protein interaction.

Yi W et al.

Biochemical and Biophysical Research Communications, 2005

An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology.

Zhu Y et al.

Cancer Research, 2004

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 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."