(Q44856783)

English

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

scientific article published on 25 February 2014

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scholarly article

1 reference

Europe PubMed Central

6 December 2017

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

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Europe PubMed Central

6 December 2017

alternative mRNA splicing, via spliceosome

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based on heuristic

inferred from title

Melissa A Brown

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Eduardo Díaz-Rubio

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object named as

Mara Colombo

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object named as

Logan Walker

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object named as

Atocha Romero

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Sara Gutiérrez-Enríquez

object named as

Sara Gutiérrez-Enríquez

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object named as

Orland Díez

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object named as

Amanda B Spurdle

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Miguel de la Hoya

object named as

Miguel De La Hoya

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Barbara Wappenschmidt

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object named as

Barbara Wappenschmidt

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Europe PubMed Central

6 December 2017

kConFab Investigators

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object named as

kConFaB Investigators

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Europe PubMed Central

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Claude Houdayer

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object named as

Claude Houdayer

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author name string

Marinus J Blok

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6 December 2017

Phillip Whiley

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6 December 2017

Marta Santamariña

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Pilar Garre

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Alexandra Becker

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6 December 2017

Lindsay Denise Smith

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6 December 2017

Giovanna De Vecchi

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Rita D Brandão

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Demis Tserpelis

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Ana Blanco

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6 December 2017

Sandra Bonache

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Mireia Menéndez

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6 December 2017

Claudia Foglia

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James D Fackenthal

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Trinidad Caldés

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Ana Vega

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6 December 2017

publication date

25 February 2014

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6 December 2017

Human Molecular Genetics

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23

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3666-3680

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6 December 2017

Alternative isoform regulation in human tissue transcriptomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Landscape of transcription in human cells

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The origins, evolution, and functional potential of alternative splicing in vertebrates

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Alternative splicing: new insights from global analyses

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Different levels of alternative splicing among eukaryotes

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The adaptive significance of unproductive alternative splicing in primates.

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The implications of alternative splicing in the ENCODE protein complement

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The importance of identifying alternative splicing in vertebrate genome annotation

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

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https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Stochastic noise in splicing machinery

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

BRCA1 and BRCA2: different roles in a common pathway of genome protection

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 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://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Emerging roles of BRCA1 alternative splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Identification of BRCA1-IRIS, a BRCA1 locus product

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Alternative splicing of breast cancer associated gene BRCA1 from breast cancer cell line

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Cloning and characterization of a new BRCA1 variant: A role for BRCT domains in apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Distinct transcription start sites generate two forms of BRCA1 mRNA.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

BRCA1-IRIS overexpression promotes formation of aggressive breast cancers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Targeted RNA sequencing reveals the deep complexity of the human transcriptome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Tissue-specific splicing of disordered segments that embed binding motifs rewires protein interaction networks

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Intrinsic disorder in scaffold proteins: getting more from less

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Alternative splicing: a pivotal step between eukaryotic transcription and translation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

The breast cancer information core: database design, structure, and scope

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Origin of introns by ‘intronization’ of exonic sequences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU075

21 January 2018

Identifiers

10.1093/HMG/DDU075

1 reference

Europe PubMed Central

6 December 2017

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Europe PubMed Central

6 December 2017

ResearchGate publication ID

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