Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants. (Q55023194)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants. (English)

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

1

object named as

Vanessa L Lattimore

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

2

object named as

John F Pearson

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

Margaret Currie

3

object named as

Margaret J Currie

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

4

object named as

Amanda B Spurdle

1 reference

Europe PubMed Central

15 June 2018

kConFab Investigators

5

object named as

kConFab Investigators

1 reference

Europe PubMed Central

15 June 2018

Bridget Robinson

6

object named as

Bridget A Robinson

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

7

object named as

Logan C Walker

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

publication date

3 May 2018

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

Frontiers in Oncology

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

8

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

140

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

copyright license

Creative Commons Attribution 4.0 International

3 May 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Intron retention is a widespread mechanism of tumor-suppressor inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

STAR: ultrafast universal RNA-seq aligner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

RNA-Seq: a revolutionary tool for transcriptomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

16 June 2018

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5943536

13 August 2018

Identifiers

10.3389/FONC.2018.00140

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

release_ycgwczpvufhrbd2ctefgtzcr7u

1 reference

https://api.fatcat.wiki/v0/release/ycgwczpvufhrbd2ctefgtzcr7u

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

1 reference

Europe PubMed Central

15 June 2018

http://europepmc.org/abstract/PMC/5943536

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q55023194&oldid=1895072786"