Characterization of mutant MUTYH proteins associated with familial colorectal cancer. - Wikidata - wikimedia - TriplyDB

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

http://www.wikidata.org/entity/Q37386808

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Base excision repair and cancer Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment Ser 524 is a phosphorylation site in MUTYH and Ser 524 mutations alter 8-oxoguanine (OG): a mismatch recognition.Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews.Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population Lack of association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and keratoconus in a Polish subpopulation Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.Genetic variability in DNA repair proteins in age-related macular degeneration.Understanding the role of the Q338H MUTYH variant in oxidative damage repair Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.Gene-gene interactions in gastrointestinal cancer susceptibility.MUTYH-associated colorectal cancer and adenomatous polyposis.Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report.Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.MUTYH gene expression and alternative splicing in controls and polyposis patients.MUTYH hotspot mutations in unselected colonoscopy patients.A zinc linchpin motif in the MUTYH glycosylase interdomain connector is required for efficient repair of DNA damage.MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.Substitutions in Spodoptera exigua topoisomerase I modulate its relaxation activity and camptothecin sensitivity.Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine Defective MUTYH mutants do not cleave adenine mispaired with 8-oxoguanine Defective MUTYH substrate binding Defective MUTYH substrate processing A human MUTYH variant linking colonic polyposis to redox degradation of the [4Fe4S] cluster

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Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

http://www.wikidata.org/entity/Q37386808

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 07 May 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

@en

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

@nl

type

label

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

@en

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

@nl

prefLabel

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

@en

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

@nl

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J.GASTRO.2008.04.035

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Gastroenterology

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Characterization of mutant MUTYH proteins associated with familial colorectal cancer

@en

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Claire Cupples

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Hyeja Kim

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Mohsin Ali

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Sean Cleary

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P2860

Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein

Cloning and characterization of hOGG1, a human homolog of the OGG1 gene of Saccharomyces cerevisiae

Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA synthesis

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis

A functional analysis of the DNA glycosylase activity of mouse MUTYH protein excising 2-hydroxyadenine opposite guanine in DNA

Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase

MutY catalytic core, mutant and bound adenine structures define specificity for DNA repair enzyme superfamily

Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage

Genome maintenance mechanisms for preventing cancer

Lessons from hereditary colorectal cancer

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499-507

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scholarly article

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10.1053/J.GASTRO.2008.04.035

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2

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135

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Steven Gallinger

Robert G. Bristow

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2008-05-07T00:00:00Z

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5321761

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18534194

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colorectal cancer

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2761659

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