A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay
about
Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteinsThe genomics of inherited bone marrow failure: from mechanism to the clinic.Genomic characterization of the inherited bone marrow failure syndromes.A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Sirt1 ablation promotes stress-induced loss of epigenetic and genomic hematopoietic stem and progenitor cell maintenanceBRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.Functional assays for analysis of variants of uncertain significance in BRCA2.Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Hereditary breast and ovarian cancer: new genes in confined pathways.Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.BRCA2 suppresses replication stress-induced mitotic and G1 abnormalities through homologous recombination.Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.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.Blocking protein quality control to counter hereditary cancers.Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
P2860
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P2860
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay
description
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
@ast
im September 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2011/09/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/09/01)
@nl
наукова стаття, опублікована у вересні 2011
@uk
مقالة علمية (نشرت في سبتمبر 2011)
@ar
name
A comprehensive functional cha ...... sing mouse ES cell-based assay
@ast
A comprehensive functional cha ...... sing mouse ES cell-based assay
@en
A comprehensive functional cha ...... sing mouse ES cell-based assay
@nl
type
label
A comprehensive functional cha ...... sing mouse ES cell-based assay
@ast
A comprehensive functional cha ...... sing mouse ES cell-based assay
@en
A comprehensive functional cha ...... sing mouse ES cell-based assay
@nl
prefLabel
A comprehensive functional cha ...... sing mouse ES cell-based assay
@ast
A comprehensive functional cha ...... sing mouse ES cell-based assay
@en
A comprehensive functional cha ...... sing mouse ES cell-based assay
@nl
P2093
P2860
P1433
P1476
A comprehensive functional cha ...... sing mouse ES cell-based assay
@en
P2093
Blanche P. Alter
Kajal Biswas
Lawrence C. Brody
R. Andrew Byrd
Ranabir Das
Sandra Burkett
Sergey G. Kuznetsov
Shyam K. Sharan
Stacey Stauffer
Stefan Meyer
P2860
P304
P356
10.1182/BLOOD-2010-12-324541
P407
P577
2011-09-01T00:00:00Z