Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
about
Exon first nucleotide mutations in splicing: evaluation of in silico prediction toolsCYP2B6 non-coding variation associated with smoking cessation is also associated with differences in allelic expression, splicing, and nicotine metabolism independent of common amino-acid changesBoth Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution.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.ISVASE: identification of sequence variant associated with splicing event using RNA-seq data.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.A compensatory effect upon splicing results in normal function of the CYP2A6*14 allele.RNA splicing: a new player in the DNA damage responseIdentification of splicing defects caused by mutations in the dysferlin gene.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Estimating the prevalence of functional exonic splice regulatory information.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
P2860
Q21132309-0FA75307-459E-4305-B6F8-2182B8D86F85Q28535164-29CADF7E-B0F9-48E9-86E2-A8AC881D42B6Q30398026-84838C5B-DC47-4D2F-A554-919762AA629BQ30657823-AF22BF2F-DFD1-46C6-9329-6015EA9823F8Q33850960-61547D7C-377D-4C6B-906C-3F907F8D78B0Q34603197-3ADF021E-102C-47AC-9F42-56A21C4E689EQ35881663-8DBEE973-5F59-4D42-AED4-0A90D4D8582DQ35892850-F947F72A-F168-4068-97C7-193EDE7F8D83Q37525477-70D9D76E-12B3-450C-8843-960858D7865DQ37573922-5BA78A9C-BE39-4C09-A197-E1A313B0BAAAQ38155497-4E03F59F-EF2D-48E3-88FA-86209CC11E2BQ38422287-C1657B83-8C7F-47BC-A4BE-FFE573AE6588Q38652003-17DB8A33-F84F-46B9-8ECA-0464AA16B75BQ39239706-1395DAE5-C562-416C-BA6D-D7219172ABD3Q39969865-3F25423E-356F-4E9D-8A7D-98F4EE62428FQ41084246-3DB7C15E-59D9-4F4C-AF99-8343EA7F257CQ47558855-6B5D340F-D54A-4CBF-923B-AC36C0AA76B0Q47684329-DA54AE69-7761-4090-917C-3B966925BDD7Q47804537-791D7D62-90BB-4860-802B-D4E0D9484D85Q48231221-9F8AD434-2776-43DC-A172-A684F5080692Q54417194-0416506E-E150-4BA8-97E1-0DFC4BE0676BQ57847415-677C8FFA-6F79-4504-83AC-81BDA1E659B6
P2860
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@en
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@nl
type
label
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@en
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@nl
prefLabel
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@en
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@nl
P2093
P1476
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
@en
P2093
Agnès Hardouin
Alexandra Martins
Claude Houdayer
Daniela Di Giacomo
Danielle Ledemeney
Dominique Vaur
Elodie Bohers
Estelle Jamard
Etienne Rouleau
Françoise Révillion
P304
P356
10.1136/JMEDGENET-2012-100965
P407
P577
2012-09-07T00:00:00Z