(Q38029584)

27 August 2017

title

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future (English)

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27 August 2017

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Brigitte Royer-Pokora

3

object named as

Brigitte Royer-Pokora

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Lene Juel Rasmussen

object named as

Lene Juel Rasmussen

1

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author name string

Christopher D Heinen

2

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27 August 2017

Mark Drost

4

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27 August 2017

Sean Tavtigian

5

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27 August 2017

Robert M W Hofstra

6

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27 August 2017

Niels de Wind

7

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27 August 2017

publication date

13 August 2012

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27 August 2017

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27 August 2017

volume

33

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27 August 2017

issue

12

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27 August 2017

page(s)

1617-1625

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Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

27 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.22168

Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis

21 January 2018

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C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins

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Characterization of the nuclear import of human MutLalpha

21 January 2018

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

21 January 2018

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Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer

21 January 2018

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Methylation-induced G2/M arrest requires a full complement of the mismatch repair protein hMLH1

21 January 2018

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Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

21 January 2018

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Nuclear translocation of mismatch repair proteins MSH2 and MSH6 as a response of cells to alkylating agents

21 January 2018

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Functional analysis of human MutSalpha and MutSbeta complexes in yeast

21 January 2018

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Functional interaction of proliferating cell nuclear antigen with MSH2-MSH6 and MSH2-MSH3 complexes

21 January 2018

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Assessment of functional effects of unclassified genetic variants

21 January 2018

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The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex

21 January 2018

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Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding

21 January 2018

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Genetic predisposition to colorectal cancer

21 January 2018

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A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

21 January 2018

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A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

21 January 2018

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Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

21 January 2018

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

21 January 2018

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Mismatch repair, molecular switches, and signal transduction

21 January 2018

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Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

21 January 2018

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

21 January 2018

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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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Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

21 January 2018

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Reciprocal regulation of nuclear import of the yeast MutSalpha DNA mismatch repair proteins Msh2 and Msh6.

21 January 2018

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

21 January 2018

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Dominant Saccharomyces cerevisiae msh6 mutations cause increased mispair binding and decreased dissociation from mispairs by Msh2-Msh6 in the presence of ATP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Biochemical basis for dominant mutations in the Saccharomyces cerevisiae MSH6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

The multifaceted mismatch-repair system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Endonucleolytic function of MutLalpha in human mismatch repair.

21 January 2018

1 reference

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A possible mechanism for exonuclease 1-independent eukaryotic mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Nuclear translocation contributes to regulation of DNA excision repair activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Mechanisms and functions of DNA mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

An Msh2 point mutation uncouples DNA mismatch repair and apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Functional analysis of HNPCC-related missense mutations in MSH2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

DNA mismatch repair-dependent response to fluoropyrimidine-generated damage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Mechanisms in eukaryotic mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

PON-P: integrated predictor for pathogenicity of missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Mechanisms of pathogenicity in human MSH2 missense mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Deficient DNA mismatch repair: a common etiologic factor for colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Role of DNA mismatch repair defects in the pathogenesis of human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Mammalian mismatch repair: error-free or error-prone?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Mismatch repair and DNA damage signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

In silico analysis of missense substitutions using sequence-alignment based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Msh2 status modulates both apoptosis and mutation frequency in the murine small intestine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Mismatch repair processing of carcinogen-DNA adducts triggers apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Dimerization of MLH1 and PMS2 Limits Nuclear Localization of MutLα

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

7 January 2021

Nuclear import of human MLH1, PMS2, and MutLalpha: redundancy is the key

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

7 January 2021

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

7 January 2021

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

7 January 2021

The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

7 January 2021

Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22168

7 January 2021

Identifiers

DOI

10.1002/HUMU.22168

1 reference

27 August 2017

1 reference