An Escherichia coli effector protein promotes host mutation via depletion of DNA mismatch repair proteins. [PDF]
, 2013 Enteropathogenic Escherichia coli (EPEC) is an attaching and effacing (A/E) human pathogen that causes diarrhea during acute infection, and it can also sustain asymptomatic colonization. A/E E.
Donnenberg, Michael S. +2 more
core +1 more source
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer. [PDF]
PLoS ONE, 2010 We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples.
Miralem Mrkonjic +21 more
doaj +1 more source
A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]
, 2016 Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core +3 more sources
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. [PDF]
PLoS Genetics, 2013 The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying mutation, an approach that is likely
Ricardo Mouro Pinto +15 more
doaj +1 more source
Frontiers in Genetics, 2022 The DNA mismatch repair (MMR) pathway and its regulation are critical for genomic stability. Mismatch repair (MMR) follows replication and repairs misincorporated bases and small insertions or deletions that are not recognized and removed by the ...
Hannah G. Daniels +8 more
doaj +1 more source
Journal of Molecular Pathology, 2022 Several causes may lead to CRC, either extrinsic (sporadic forms) or genetic (hereditary forms), such as Lynch syndrome (LS). Most sporadic deficient mismatch repair (dMMR) CRC cases are characterized by the methylation of the MLH1 promoter gene and/or ...
Thais Maloberti +15 more
doaj +1 more source
Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]
, 2014 Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram +7 more
core +2 more sources
Mutator Phenotypes Conferred by MLH1Overexpression and by Heterozygosity for mlh1Mutations [PDF]
Molecular and Cellular Biology, 1999 Loss of DNA mismatch repair due to mutation or diminished expression of the MLH1 gene is associated with genome instability and cancer. In this study, we used a yeast model system to examine three circumstances relevant to modulation of MLH1 function.
P V, Shcherbakova, T A, Kunkel
openaire +2 more sources
Tumor-associated Apc mutations in Mlh1−/−Apc1638N mice reveal a mutational signature of Mlh1 deficiency [PDF]
Oncogene, 2000 Apc1638N mice, which are heterozygous for a germline mutation in Apc, typically develop three to five spontaneous intestinal tumors per animal. In most cases this is associated with allelic loss of wildtype Apc. We have previously reported that the multiplicity of intestinal tumors is increased dramatically by crossing Apc1638N with an Mlh1-deficient ...
M, Kuraguchi +5 more
openaire +2 more sources
MLH1 Methylation-Based Testing in Peripheral Blood Mononuclear Cells is a Promising Biomarker for Colorectal Cancer Diagnosis and Prognosis [PDF]
Middle East Journal of CancerBackground: Recent evidence has shown that peripheral blood mononuclear cells (PBMCs) can reflect the epigenetic profile of tissues they interact with, such as malignant cells. The hypermethylation of MLH1 promoter is a well-defined epigenetic alteration
Farzaneh Yousefisadr +4 more
doaj +1 more source