MSH6 gene methylation on clinical pathology and diagnosis in retinoblastoma: a bioinformatics analysis [PDF]
International Journal of OphthalmologyAIM: To explore the methylation status of MSH6 in retinoblastoma (RB) and its impact on clinicopathological features and diagnosis. METHODS: Differentially expressed genes were identified through bioinformatics screening of the GSE24673 and GSE125903 ...
Cheng-Fang Zhang +3 more
doaj +2 more sources
Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae. [PDF]
PLoS Genetics, 2014 In Saccharomyces cerevisiae, the essential mismatch repair (MMR) endonuclease Mlh1-Pms1 forms foci promoted by Msh2-Msh6 or Msh2-Msh3 in response to mispaired bases. Here we analyzed the Mlh1-Mlh2 complex, whose role in MMR has been unclear.
Christopher S Campbell +7 more
doaj +5 more sources
The DNA mismatch repair protein, MSH6 is a novel regulator of PD-L1 expression
NeoplasiaImmune checkpoint inhibitors (ICIs) are extremely effective in a subgroup of mismatch repair-deficient (MMRd) cancers, but ∼50% remain resistant to treatment. We have shown for the first time that this may be due to the differential regulation of factors
Eleni Maniati +2 more
exaly +3 more sources
Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers [PDF]
Frontiers in ImmunologyObjectiveIn this study, we systematically compared the microsatellite shift patterns detected by PCR-based microsatellite instability analysis (PCR-MSI) in mismatch repair (MMR)-deficient ECs and analyzed the clinicopathological features associated with ...
Cheng Wang +11 more
doaj +2 more sources
Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22 [PDF]
, 2012 A substantial proportion of familial colorectal cancer (CRC) is not a consequence of known susceptibility loci, such as mismatch repair (MMR) genes, supporting the existence of additional loci.
Allyson S Templeton +33 more
core +14 more sources
Сибирский онкологический журнал, 2022 Background. Hereditary genetic mutations are a significant risk factor for malignant transformation of cells and cancer development. Hereditary genetic mutations account for 15 to 25 % of all ovarian carcinomas. Purpose of the study: to summarize data on
Kh. B. Kotiv +4 more
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Zhongguo linchuang yanjiu, 2023 Objective To investigate the clinicopathological significance of colorectal cancer with mesenteric tumor deposit(TD) and the relationship with DNA mismatch repair(MMR) protein expression.
HUANG Ke-qiang, TANG Hua, HUANG Qiu-xia, OU Hai-ling
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A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients [PDF]
Obstetrics & Gynecology Science, 2023 Objective To examine the efficacy of MSH6 and PMS2 immunohistochemistry (IHC) as a screening method for Lynch syndrome in endometrial cancer patients.
Ala Aiob +9 more
doaj +1 more source
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. [PDF]
PLoS ONE, 2013 Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR) genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2 ...
Eva A L Wielders +3 more
doaj +1 more source
Cooperative nuclear localization sequences lend a novel role to the N-terminal region of MSH6. [PDF]
PLoS ONE, 2011 Human mismatch repair proteins MSH2-MSH6 play an essential role in maintaining genetic stability and preventing disease. While protein functions have been extensively studied, the substantial amino-terminal region (NTR*) of MSH6 that is unique to ...
Natalie R Gassman +5 more
doaj +1 more source