Lista de obras - Minna Nyström - Dominio Público Uruguay

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one

artículo científico publicado en 2011

APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers.

artículo científico publicado en 2005

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

artículo científico publicado en 2012

Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency

artículo científico publicado en 2014

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

artículo científico publicado en 2016

Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- mice

artículo científico publicado en 2013

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.

artículo científico publicado en 2005

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas

artículo científico publicado en 2015

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

artículo científico publicado en 2018

Diet and epigenetics in colon cancer.

artículo científico publicado en 2009

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

artículo científico publicado en 2005

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

artículo científico publicado en 2012

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

artículo científico publicado en 2009

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

artículo científico publicado en 2009

Human DNA polymerase α interacts with mismatch repair proteins MSH2 and MSH6.

artículo científico publicado en 2016

Inherited cancer predisposition sensitizes colonic mucosa to address Western diet effects and putative cancer-predisposing changes on mouse proteome

artículo científico publicado en 2014

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

artículo científico publicado en 2007

Mechanisms of pathogenicity in human MSH2 missense mutants.

artículo científico publicado en 2008

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

artículo científico publicado en 2012

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

artículo científico publicado en 2018

PMS2 expression decrease causes severe problems in mismatch repair

scientific article published on 18 April 2019

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

artículo científico publicado en 2006

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein

artículo científico publicado en 2003

The first functional study of MLH3 mutations found in cancer patients

artículo científico publicado en 2008

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

artículo científico publicado en 2008

Western Diet Deregulates Bile Acid Homeostasis, Cell Proliferation, and Tumorigenesis in Colon.

artículo científico publicado en 2017

Western diet enhances intestinal tumorigenesis in Min/+ mice, associating with mucosal metabolic and inflammatory stress and loss of Apc heterozygosity.

artículo científico publicado en 2016

Lista de obras de Minna Nyström

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one

APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancers.

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

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- mice

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Diet and epigenetics in colon cancer.

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Human DNA polymerase α interacts with mismatch repair proteins MSH2 and MSH6.

Inherited cancer predisposition sensitizes colonic mucosa to address Western diet effects and putative cancer-predisposing changes on mouse proteome

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

Mechanisms of pathogenicity in human MSH2 missense mutants.

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

PMS2 expression decrease causes severe problems in mismatch repair

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein

The first functional study of MLH3 mutations found in cancer patients

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

Western Diet Deregulates Bile Acid Homeostasis, Cell Proliferation, and Tumorigenesis in Colon.

Western diet enhances intestinal tumorigenesis in Min/+ mice, associating with mucosal metabolic and inflammatory stress and loss of Apc heterozygosity.