(Q51956436)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16395668%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

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

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15 January 2020

11

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15 January 2020

8

Christine Lasset

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15 January 2020

author name string

Jessie Auclair

1

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15 January 2020

Marie Pierre Busine

2

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15 January 2020

Claudine Navarro

3

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15 January 2020

Eric Ruano

4

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15 January 2020

Gilles Montmain

5

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15 January 2020

Françoise Desseigne

6

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15 January 2020

Jean Christophe Saurin

7

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15 January 2020

Valérie Bonadona

9

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15 January 2020

Sophie Giraud

10

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15 January 2020

Qing Wang

12

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15 January 2020

publication date

1 February 2006

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15 January 2020

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15 January 2020

volume

27

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15 January 2020

issue

2

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15 January 2020

page(s)

145-154

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Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

How did alternative splicing evolve?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

RNA analysis of eightBRCA1andBRCA2unclassified variants identified in breast/ovarian cancer families from Spain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

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.20280

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

The regulation of splice-site selection, and its role in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

BRCA2 T2722R is a deleterious allele that causes exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Pre-mRNA splicing and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

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.20280

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.20280

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

A BRCA1 nonsense mutation causes exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

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.20280

7 January 2021

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Silencer elements as possible inhibitors of pseudoexon splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

A role for MLH3 in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20280

7 January 2021

Identifiers

DOI

10.1002/HUMU.20280

1 reference

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15 January 2020

1 reference