about
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- miceDNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas.Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency.Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.Diet and epigenetics in colon cancer.Mechanisms of pathogenicity in human MSH2 missense mutants.Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.Western Diet Deregulates Bile Acid Homeostasis, Cell Proliferation, and Tumorigenesis in Colon.Inherited cancer predisposition sensitizes colonic mucosa to address Western diet effects and putative cancer-predisposing changes on mouse proteome.Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.Western diet enhances intestinal tumorigenesis in Min/+ mice, associating with mucosal metabolic and inflammatory stress and loss of Apc heterozygosity.Human DNA polymerase α interacts with mismatch repair proteins MSH2 and MSH6.Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers.Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional proteinA putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic oneThe first functional study of MLH3 mutations found in cancer patientsDNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.PMS2 expression decrease causes severe problems in mismatch repair
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Minna Nyström
@ast
Minna Nyström
@en
Minna Nyström
@es
Minna Nyström
@nl
Minna Nyström
@sl
type
label
Minna Nyström
@ast
Minna Nyström
@en
Minna Nyström
@es
Minna Nyström
@nl
Minna Nyström
@sl
prefLabel
Minna Nyström
@ast
Minna Nyström
@en
Minna Nyström
@es
Minna Nyström
@nl
Minna Nyström
@sl
P106
P21
P31
P496
0000-0003-0827-0243