Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. - Test2 - elhamkhani - TriplyDB

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

http://www.wikidata.org/entity/Q34581303

about

A guide for functional analysis of BRCA1 variants of uncertain significance The role of poly(ADP-ribosyl)ation in DNA damage response and cancer chemotherapy Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition Structural Insights into Recognition of MDC1 by TopBP1 in DNA Replication Checkpoint Control Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155 Peptide library approach to uncover phosphomimetic inhibitors of the BRCA1 C-terminal domain Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1 BRCT domains: A little more than kin, and less than kind Structure-PPi: a module for the annotation of cancer-related single-nucleotide variants at protein-protein interfaces Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.BRCA1 haploinsufficiency leads to altered expression of genes involved in cellular proliferation and development.Two decades after BRCA: setting paradigms in personalized cancer care and prevention A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1 Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines BRCA1-directed, enhanced and aberrant homologous recombination: mechanism and potential treatment strategies.Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient.Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.Functional and structural analysis of C-terminal BRCA1 missense variants.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic BRCA1 Circos: a visualisation resource for functional analysis of missense variants.A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity BRCA1-Ku80 protein interaction enhances end-joining fidelity of chromosomal double-strand breaks in the G1 phase of the cell cycle Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.Stabilization of mutant BRCA1 protein confers PARP inhibitor and platinum resistance.BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.BRCA1 is a novel regulator of metabolic function in skeletal muscle.Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes Incorporating computational resources in a cancer research program.

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Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

http://www.wikidata.org/entity/Q34581303

description

2010 nî lūn-bûn

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2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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Comprehensive analysis of miss ...... uctural and functional assays.

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Comprehensive analysis of miss ...... uctural and functional assays.

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Comprehensive analysis of miss ...... uctural and functional assays.

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Comprehensive analysis of miss ...... uctural and functional assays.

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Comprehensive analysis of miss ...... uctural and functional assays.

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Comprehensive analysis of miss ...... uctural and functional assays.

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Cancer Research

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Comprehensive analysis of miss ...... ructural and functional assays

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P2860

The BRCT domain is a phospho-protein binding domain

MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response

DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains

Identification of a RING protein that can interact in vivo with the BRCA1 gene product

Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains

Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex

BRCA1 regulates p53-dependent gene expression

Structure of a BRCA1-BARD1 heterodimeric RING-RING complex

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

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