Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts (Q33589578)

28 July 2017

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts (English)

1 reference

28 July 2017

Logan C Walker

4

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Melissa A Brown

object named as

Melissa A Brown

7

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Amanda Spurdle

object named as

Amanda B Spurdle

6

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kConFab Investigators

5

object named as

kConFab Investigators

1 reference

28 July 2017

Phillip J Whiley

1

1 reference

28 July 2017

Christopher A Pettigrew

2

1 reference

28 July 2017

Brooke L Brewster

3

1 reference

28 July 2017

28 May 2010

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28 July 2017

1 reference

28 July 2017

11

1 reference

28 July 2017

80

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-80

28 July 2017

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cites work

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

Prediction and assessment of splicing alterations: implications for clinical testing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

Functional assays for classification of BRCA2 variants of uncertain significance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

BRCA2 T2722R is a deleterious allele that causes exon skipping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

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=2897790

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=2897790

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other 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=2897790

Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-80

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2897790

Missense mutations in cancer suppressor gene TP53 are colocalized with exonic splicing enhancers (ESEs)

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20507642

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-11-80

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference