Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes (Q36862037)

16 August 2017

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title

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes (English)

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16 August 2017

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8

Robert M W Hofstra

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16 August 2017

Rolf H Sijmons

4

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Lene Juel Rasmussen

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Lene Juel Rasmussen

7

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author name string

Jianghua Ou

1

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16 August 2017

Renée C Niessen

2

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16 August 2017

Anne Lützen

3

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16 August 2017

Jan H Kleibeuker

5

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16 August 2017

Niels de Wind

6

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16 August 2017

publication date

1 November 2007

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16 August 2017

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16 August 2017

volume

28

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16 August 2017

issue

11

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16 August 2017

page(s)

1047-1054

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The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications

16 August 2017

cites work

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Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer

21 January 2018

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Functional Domains of the Saccharomyces cerevisiae Mlh1p and Pms1p DNA Mismatch Repair Proteins and Their Relevance to Human Hereditary Nonpolyposis Colorectal Cancer-Associated Mutations

21 January 2018

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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

21 January 2018

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Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.

21 January 2018

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Altered replication and inverted repeats induce mismatch repair-independent recombination between highly diverged DNAs in yeast.

21 January 2018

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Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

21 January 2018

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7 January 2021

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

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7 January 2021

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

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7 January 2021

Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants

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7 January 2021

Characterization of the nuclear import of human MutLalpha

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7 January 2021

Functional analysis of human MutSalpha and MutSbeta complexes in yeast

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7 January 2021

Proof of "disease causing" mutation

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7 January 2021

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

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7 January 2021

Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

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7 January 2021

Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene.

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7 January 2021

The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations

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7 January 2021

The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch

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7 January 2021

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

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7 January 2021

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions

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7 January 2021

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

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7 January 2021

Strand-specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell lines

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7 January 2021

HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes

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7 January 2021

The multifaceted mismatch-repair system

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7 January 2021

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome

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7 January 2021

Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

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7 January 2021

MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability

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7 January 2021

Missense mutations in hMLH1 associated with colorectal cancer

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7 January 2021

Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair

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7 January 2021

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family

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7 January 2021

On the probability that a novel variant is a disease-causing mutation

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7 January 2021

Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA

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7 January 2021

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

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7 January 2021

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

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7 January 2021

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

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7 January 2021

Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae

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7 January 2021

Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma: effectiveness and cost-effectiveness

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7 January 2021

DNA mismatch repair: molecular mechanisms and biological function

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7 January 2021

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

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7 January 2021

Mismatch repair and DNA damage signalling

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7 January 2021

Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer

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7 January 2021

Identification and characterization of Saccharomyces cerevisiae EXO1, a gene encoding an exonuclease that interacts with MSH2

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7 January 2021

Interactions of Exo1p with components of MutLalpha in Saccharomyces cerevisiae

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7 January 2021

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

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7 January 2021

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

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7 January 2021

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20580

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16 August 2017

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