| A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSgamma Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. | A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals.
Gong C, Abbas T, Muhammad Z, Zhou J, Khan R, Ma H, Zhang H, Shi Q, Shi B., Free PMC Article | 07/2/2022 |
| Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing. | Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M, Yao C, Qin Y, Cui X, Li P, Ji Z, Lin L, Wu H, Zhou Z, Gui Y, Li Z, Gao F., Free PMC Article | 03/26/2022 |
| Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. | Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.
Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F. | 03/5/2022 |
| Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4. | Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4.
Lin M, Guo L, Cheng Z, Huan X, Huang Y, Xu K. | 08/14/2021 |
| Decreased expression of HCP5 in biochemical premature ovarian insufficiency (bPOI) contributed to dysfunctional granulosa cells by regulating MSH5 transcription and DNA damage repair via the interaction with YB1, providing a novel epigenetic mechanism for POI pathogenesis. | Long noncoding RNA HCP5 participates in premature ovarian insufficiency by transcriptionally regulating MSH5 and DNA damage repair via YB1.
Wang X, Zhang X, Dang Y, Li D, Lu G, Chan WY, Leung PCK, Zhao S, Qin Y, Chen ZJ., Free PMC Article | 08/1/2020 |
| Findings indicate that carriers of the MSH5 rs707939 T allele, the MSH2 rs6544991 C allele, the MSH3 rs6151627 and rs6151670 G alleles, and the MSH3 rs7709909 T allele have poor toxicity tolerance to platinum-based chemotherapy in non-small cell lung cancer patients. | Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients.
Liu JY, Qian CY, Gao YF, Chen J, Zhou HH, Yin JY., Free PMC Article | 10/28/2017 |
| From sanger sequencing of MSH5 in 200 sporadic POI patients, we identified three heterozygous mutations . Considering the heterozygous p.D487Y carrier in the POI pedigree was fertile, the causality of the three heterozygous mutations in POI need more evidence | Mutations in MSH5 in primary ovarian insufficiency.
Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen ZJ., Free PMC Article | 05/20/2017 |
| our data point to the existence of a functional interplay between hMSH5 and FANCJ in double-strand break repair induced by replication stress. | hMSH5 Facilitates the Repair of Camptothecin-induced Double-strand Breaks through an Interaction with FANCJ.
Xu Y, Wu X, Her C., Free PMC Article | 10/24/2015 |
| the roles of hMSH5 variants in the processes of DNA damage response and repair | MutS homologue hMSH5: recombinational DSB repair and non-synonymous polymorphic variants.
Wu X, Xu Y, Feng K, Tompkins JD, Her C., Free PMC Article | 04/12/2014 |
| Authors show that MSH5 (MutSHomolog 5) is localized into the mitochondria of germ and somatic cells. | The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage.
Bannwarth S, Figueroa A, Fragaki K, Destroismaisons L, Lacas-Gervais S, Lespinasse F, Vandenbos F, Pradelli LA, Ricci JE, Rötig A, Michiels JF, Vande Velde C, Paquis-Flucklinger V. | 04/20/2013 |
| Study has suggested a role for hMSH5 in the processing of cisplatin-induced DSBs, and silencing of hMSH5 may provide a new means to improve the therapeutic efficacy of cisplatin. | MutS homologue hMSH5: role in cisplatin-induced DNA damage response.
Tompkins JD, Wu X, Her C., Free PMC Article | 08/11/2012 |
| The presence of the MSH5 85F allele marks the subgroup of DRB1*0102 haplotypes carrying susceptibility for selective IgA deficiency. MSH5 polymorphisms per se are not predisposing factors. | MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.
Pozo ND, Medrano LM, Cénit MC, Fernández-Arquero M, Ferreira A, García-Rodríguez MC, de la Concha EG, Urcelay E, Núñez C, Pozo ND, Medrano LM, Cénit MC, Fernández-Arquero M, Ferreira A, García-Rodríguez MC, de la Concha EG, Urcelay E, Núñez C. | 02/5/2011 |
| hMSH5 possesses a CRM1-dependent nuclear export signal and a nuclear localization signal that participates to its nuclear targeting. | hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization.
Lahaye F, Lespinasse F, Staccini P, Palin L, Paquis-Flucklinger V, Santucci-Darmanin S., Free PMC Article | 07/19/2010 |
| There is an association of polymorphism C85T in MSH5 or C2531T in MLH3 with male infertility, specifically azoospermia or severe oligozoospermia, and interaction between these MSH5 and MLH3 polymorphisms increased the risk of developing male infertility | The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
Xu K, Lu T, Zhou H, Bai L, Xiang Y, Xu K, Lu T, Zhou H, Bai L, Xiang Y. | 02/8/2010 |
| this study implicates a role for hMSH5 in DNA damage response involving c-Abl and p73, and suggests that mutations impairing this process could significantly affect normal cellular responses to anti-cancer treatments. | Evidence for a direct involvement of hMSH5 in promoting ionizing radiation induced apoptosis.
Tompkins JD, Wu X, Chu YL, Her C., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | See all PubMed (2) articlesThe role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.
Xu K, Lu T, Zhou H, Bai L, Xiang Y, Xu K, Lu T, Zhou H, Bai L, Xiang Y. Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.
McKinnon E, Morahan G, Nolan D, James I, Diabetes Genetics Consortium. | 02/11/2009 |
| Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
Wang Y, Broderick P, Webb E, Wu X, Vijayakrishnan J, Matakidou A, Qureshi M, Dong Q, Gu X, Chen WV, Spitz MR, Eisen T, Amos CI, Houlston RS., Free PMC Article | 11/16/2008 |
| Biochemical identification of the proteins with which it interacted showed that SMCY formed a distinct complex with MSH5, a critical meiosis-regulatory protein in the human testicular germ cell line, NEC8. | Spermatogenesis-specific association of SMCY and MSH5.
Akimoto C, Kitagawa H, Matsumoto T, Kato S. | 01/21/2010 |
| Data have identified the interaction region between the individual subunits of hMSH4-hMSH5 that are likely involved in clamp formation and show that each subunit of the heterodimer binds ATP. | hMSH4-hMSH5 adenosine nucleotide processing and interactions with homologous recombination machinery.
Snowden T, Shim KS, Schmutte C, Acharya S, Fishel R., Free PMC Article | 01/21/2010 |
| Data show that MSH5 mutations may be one explanation for premature ovarian failure. | Genetic investigation of four meiotic genes in women with premature ovarian failure.
Mandon-Pépin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C, Fellous M, Mandon-Pépin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C, Fellous M. | 01/21/2010 |
| Observational study and meta-analysis of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.
Sanchez E, Webb RD, Rasmussen A, Kelly JA, Riba L, Kaufman KM, Garcia-de la Torre I, Moctezuma JF, Maradiaga-Ceceña MA, Cardiel-Rios MH, Acevedo E, Cucho-Venegas M, Garcia MA, Gamron S, Pons-Estel BA, Vasconcelos C, Martin J, Tusié-Luna T, Harley JB, Richardson B, Sawalha AH, Alarcón-Riquelme ME. Comprehensive analysis of DNA repair gene variants and risk of meningioma.
Bethke L, Murray A, Webb E, Schoemaker M, Muir K, McKinney P, Hepworth S, Dimitropoulou P, Lophatananon A, Feychting M, Lönn S, Ahlbom A, Malmer B, Henriksson R, Auvinen A, Kiuru A, Salminen T, Johansen C, Christensen HC, Kosteljanetz M, Swerdlow A, Houlston R. | 04/3/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesExamination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
Ucisik-Akkaya E, Davis CF, Do TN, Morrison BA, Stemmer SM, Amadio WJ, Dorak MT. MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.
Pozo ND, Medrano LM, Cénit MC, Fernández-Arquero M, Ferreira A, García-Rodríguez MC, de la Concha EG, Urcelay E, Núñez C, Pozo ND, Medrano LM, Cénit MC, Fernández-Arquero M, Ferreira A, García-Rodríguez MC, de la Concha EG, Urcelay E, Núñez C. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
Aston KI, Krausz C, Laface I, Ruiz-Castané E, Carrell DT. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA. Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.
Valdes AM, Thomson G, Type 1 Diabetes Genetics Consortium. Genetic investigation of four meiotic genes in women with premature ovarian failure.
Mandon-Pépin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C, Fellous M, Mandon-Pépin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C, Fellous M. | 03/13/2008 |
| Dimerization of MSH4 and MSH5 facilitates their nuclear localization suggesting that dimerization may regulate the intracellular trafficking of these proteins. | CRM1-dependent nuclear export and dimerization with hMSH5 contribute to the regulation of hMSH4 subcellular localization.
Neyton S, Lespinasse F, Lahaye F, Staccini P, Paquis-Flucklinger V, Santucci-Darmanin S. | 01/21/2010 |
| occurrence of an unusual TG 3' splice site in intron 6 | Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M., Free PMC Article | 10/9/2007 |
| A review of the properties and functional roles of MSH5. | MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.
Her C, Zhao N, Wu X, Tompkins JD. | 01/21/2010 |