Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
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A guide for functional analysis of BRCA1 variants of uncertain significanceInteraction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesHomologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteinsA comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assayIdentification of functional genetic variation in exome sequence analysisAssessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modelingCharacterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicitySynthetic viability by BRCA2 and PARP1/ARTD1 deficiencies.Alteration of BRCA1 expression affects alcohol-induced transcription of RNA Pol III-dependent genes.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Identification of Medically Actionable Secondary Findings in the 1000 Genomes.Replication fork stability confers chemoresistance in BRCA-deficient cellsReevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer contextFunctional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control studyFunctional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantFunctional modules, mutational load and human genetic diseaseA cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localizationBRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.Breast cancer gene variants: separating the harmful from the harmless.Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice.p53 polymorphisms: cancer implications.TP53 supports basal-like differentiation of mammary epithelial cells by preventing translocation of deltaNp63 into nucleoli.Functional assays for analysis of variants of uncertain significance in BRCA2.BRCA2: one small step for DNA repair, one giant protein purified.BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Hereditary breast and ovarian cancer: new genes in confined pathways.Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants.An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.Moonlighting at replication forks - a new life for homologous recombination proteins BRCA1, BRCA2 and RAD51.Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.Post-synapse model cell for synaptic glutamate receptor (GluR)-based biosensing: strategy and engineering to maximize ligand-gated ion-flux achieving high signal-to-noise ratio.BRCA2 suppresses replication stress-induced mitotic and G1 abnormalities through homologous recombination.RADX Promotes Genome Stability and Modulates Chemosensitivity by Regulating RAD51 at Replication Forks.
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P2860
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 06 July 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
@en
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
@nl
type
label
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
@en
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
@nl
prefLabel
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
@en
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.
@nl
P2093
P2860
P356
P1433
P1476
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2
@en
P2093
Pentao Liu
Sergey G Kuznetsov
Shyam K Sharan
P2860
P2888
P304
P356
10.1038/NM.1719
P407
P577
2008-07-06T00:00:00Z