Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
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Title
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue 14, Pages 3666-3680
Publisher
Oxford University Press (OUP)
Online
2014-02-26
DOI
10.1093/hmg/ddu075
References
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Note: Only part of the references are listed.- 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
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- 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
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- Alternative splicing: a pivotal step between eukaryotic transcription and translation
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- 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
- (2012) Jan Sevcik et al. CELLULAR SIGNALLING
- Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
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- Tissue-Specific Splicing of Disordered Segments that Embed Binding Motifs Rewires Protein Interaction Networks
- (2012) Marija Buljan et al. MOLECULAR CELL
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- BRCA1-IRIS Overexpression Promotes Formation of Aggressive Breast Cancers
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- Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
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- 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
- (2011) Amanda B. Spurdle et al. HUMAN MUTATION
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- Unfoldomics of human diseases: linking protein intrinsic disorder with diseases
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- Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study
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- (2009) Mo Chen et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
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