(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

0 references

Melissa A Brown

object named as

Melissa A Brown

7

0 references

Amanda Spurdle

object named as

Amanda B Spurdle

6

0 references

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

1 reference

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

0 references

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