Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family (Q28253493)

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object named as

W D Foulkes

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author name string

S McVety

1

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L Li

2

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P H Gordon

3

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G Chong

Journal of Medical Genetics

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language of work or name

English

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publication date

February 2006

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published in

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volume

43

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issue

2

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page(s)

153-6

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cites work

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

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20 March 2017

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Predictive identification of exonic splicing enhancers in human genes

7 April 2017

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

7 April 2017

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SR proteins and splicing control

7 April 2017

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Genetic predisposition to colorectal cancer

7 April 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

1 reference

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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

29 September 2017

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

29 September 2017

1 reference

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NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on.

29 September 2017

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Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1.

29 September 2017

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Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

29 September 2017

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Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

29 September 2017

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Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

Distinct functions of SR proteins in recruitment of U1 small nuclear ribonucleoprotein to alternative 5' splice sites

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

Alternatively spliced TCR mRNA induced by disruption of reading frame.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

Regulation of tissue-specific splicing of the calcitonin/calcitonin gene-related peptide gene by RNA-binding proteins.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

Distinct functions of SR proteins in alternative pre-mRNA splicing.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564635

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15923275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15923275