Varaico: Literature-Extracted Genetic Variants

Gene:MSH5
Variant:p.D487Y
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MSH5

NM_172166.4:p.D487Y

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

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 2024

DNA double-strand break genetic variants in patients with premature ovarian insufficiency.

Ding X et al.

Journal of Ovarian Research, 2023

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.

Xie C et al.

Human Reproduction Update, 2022

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Wyrwoll MJ et al.

Human Reproduction (oxford, England), 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

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

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Premature Ovarian Insufficiency: Phenotypic Characterization Within Different Etiologies.

Jiao X et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Mutations in MSH5 in primary ovarian insufficiency.

Guo T et al.

Human Molecular Genetics, 2017

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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."