(Q30826056)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

3

1 reference

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30 December 2019

Alessandro Stella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Patrizia Lastella

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Nicoletta Concetta Surdo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Ginevra Guanti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

language of work or name

English

0 references

publication date

22 September 2006

1 reference

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30 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

7

1 reference

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30 December 2019

page(s)

243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

30 December 2019

copyright license

start time

22 September 2006

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2164-7-243

0 references

cites work

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

ASD: a bioinformatics resource on alternative splicing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Variation in alternative splicing across human tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Genomic variants in exons and introns: identifying the splicing spoilers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Computational definition of sequence motifs governing constitutive exon splicing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

ESEfinder: A web resource to identify exonic splicing enhancers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Predictive identification of exonic splicing enhancers in human genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

SR-A1, a member of the human pre-mRNA splicing factor family, and its expression in colon cancer progression

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1590028

Cell type specificity in alternative splicing of the human mismatch repair gene hMSH2

25 November 2018

1 reference

12 December 2020

Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues

1 reference

12 December 2020

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

12 December 2020

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2164-7-243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

30 December 2019

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2164-7-243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16995940%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference