A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects (Q57259084)

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object named as

Sylviane Olschwang

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author name string

Isabelle Tournier

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Myriam Vezain

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Alexandra Martins

3

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Françoise Charbonnier

4

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Stéphanie Baert-Desurmont

5

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Qing Wang

7

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Marie Pierre Buisine

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Johann Soret

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Thierry Frébourg

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Mario Tosi

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

12

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publication date

December 2008

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published in

Human Mutation

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volume

29

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page(s)

1412-1424

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issue

12

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Endometrial Cancer Risk Is Associated with Variants of the Mismatch Repair Genes MLH1 and MSH2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Use of minigene systems to dissect alternative splicing elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Pre-mRNA splicing and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Polymorphisms in the hMSH2 gene and the risk of primary lung cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Recognition of exonic splicing enhancer sequences by the Drosophila splicing repressor RSF1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Hereditary colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Automated splicing mutation analysis by information theory.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

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.20796

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

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.20796

7 January 2021

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20796

7 January 2021