Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. - Test2 - elhamkhani - TriplyDB

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

http://www.wikidata.org/entity/Q34116553

about

Structural evidence for direct interactions between the BRCT domains of human BRCA1 and a phospho-peptide from human ACC1 A guide for functional analysis of BRCA1 variants of uncertain significance BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes Functional impact of missense variants in BRCA1 predicted by supervised learning Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1 Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A Identifying mutation specific cancer pathways using a structurally resolved protein interaction network.Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.Evidence of colorectal cancer-associated mutation in MCAK: a computational report.Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.BRCA1 protein and nucleolin colocalize in breast carcinoma tissue and cancer cell lines.A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1 Toward classification of BRCA1 missense variants using a biophysical approach.The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.A multilevel model to address batch effects in copy number estimation using SNP arrays.Whole-genome sequencing of the world's oldest people Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair.Functional and structural analysis of C-terminal BRCA1 missense variants.Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.BRCA1 Circos: a visualisation resource for functional analysis of missense variants.Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1.Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women.Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1 Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.

P2860

Q24651980-2CE3FEB7-4008-4047-B716-0B4682EB8E8E Q26829268-E8EF1C63-A6DC-43FE-A27E-9FFF507B6EBA Q27002334-29F91981-E294-49E2-99C4-1E4EEC36606E Q27649882-01C70060-F483-4D1A-8AAD-0D7EAE79B55D Q27667456-BE608187-2A15-4376-8870-336F1CB68AC4 Q28072478-BE38491B-6796-485A-90E4-D5B2A39771CE Q28469139-BA8EFD7F-172F-489B-98CA-7D4DAF49322E Q28539000-B5D69AFE-58C8-460F-A444-51160D8B350D Q30361415-23518874-AB37-40E4-A620-54B89EC3536F Q30368701-D3084A25-2306-4EFA-B0A7-F6759EDF94F5 Q30370822-CAD8DF7F-D291-4A5D-9263-6822F3B9E565 Q30373569-009E4872-ADD0-4970-9962-8B808CD686AD Q30429097-353E0CDA-6709-4BFC-985D-B1E7B43BB25F Q30490274-5840D071-41AB-4403-B7E2-E6D84E974B7D Q33337136-1A494C14-129E-4FD2-A4EF-7133F0399F89 Q33475933-6E287D80-BBEA-4F3E-B553-D9765D71D0CA Q33523959-36D1A4F6-DF1E-4CE2-8C25-F3363D37FFCD Q33857421-74ED2952-20DE-47EE-A597-99FC204DE891 Q33924373-11E688C8-BD27-4DF3-9613-DC72B2F420EE Q33991747-FCBB9C03-EEDA-4773-868A-ABE5381083AD Q34146943-0BC83F72-0015-48D1-9BB4-EEE9C0949533 Q34288968-02DFEB41-84B3-4051-B828-6FC621D7F177 Q34425384-8846F9B3-C97F-43CD-B5CF-68E2802084E6 Q34497678-4EAB7F74-EA06-4563-B412-E9A1A2D1A070 Q34581303-729FCB43-097F-415E-9270-B8FA78C03554 Q34581343-F3C1B01F-9451-4DB0-A522-A8BAEA7D4925 Q34684253-A4D34E8B-A6A9-498C-95BF-B47ACB0F4A09 Q34737253-32B62180-EF0C-4B18-B8EE-339D888A4B87 Q34773464-F9237F1E-95B9-46CD-A197-4AB35C479ABF Q35138569-3C2663BE-43EA-439C-8B40-72A50021A73E Q35350825-AB42C131-01F4-4B7A-904A-D803B8CBFD3A Q35396232-EB87579A-5D33-48BC-B8DA-D523F297F8A5 Q35565644-3A9D7E29-8BEC-46E4-B6E4-5FF11C70A535 Q35630889-EC855181-C0F1-4780-8A20-70AD28D50F32 Q36119820-6A79DA82-4DD8-42EC-ABF5-D7E29BB04B66 Q36465306-B16040C2-9DF5-49D8-99EB-825A9F78531A Q36492194-94DEA160-89D0-469F-8BAB-9A382E84B275 Q36501516-632AB71B-0B91-4DD0-A427-13697CA9B38F Q36871668-348368CE-A796-4C2A-9BAD-2B7B33D6ABBA Q36990096-C0B83CDB-6ABD-4C21-844A-C42CDBF4AFFB

P2860

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

http://www.wikidata.org/entity/Q34116553

description

2007 nî lūn-bûn

@nan

2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年学术文章

@wuu

2007年学术文章

@zh-cn

2007年学术文章

@zh-hans

2007年学术文章

@zh-my

2007年学术文章

@zh-sg

2007年學術文章

@yue

name

Determination of cancer risk a ...... riants by functional analysis.

@ast

Determination of cancer risk a ...... riants by functional analysis.

@en

Determination of cancer risk a ...... riants by functional analysis.

@nl

type

label

Determination of cancer risk a ...... riants by functional analysis.

@ast

Determination of cancer risk a ...... riants by functional analysis.

@en

Determination of cancer risk a ...... riants by functional analysis.

@nl

prefLabel

Determination of cancer risk a ...... riants by functional analysis.

@ast

Determination of cancer risk a ...... riants by functional analysis.

@en

Determination of cancer risk a ...... riants by functional analysis.

@nl

P1433

Q34116553-5E470F7D-6F86-4CBD-9329-D1B9AD2CC8DD

P1476

Q34116553-A4D18718-B1E3-459E-8303-E88747C32E1F

P2093

Q34116553-113664B5-EDED-49F9-B521-563796AC1050

Q34116553-116C872F-9EE2-4799-A43A-2A9D59A46AFF

Q34116553-4156C844-F402-4C7B-8F2F-564251DA0DDA

Q34116553-59EC6F05-DF6C-428D-8077-550D1575C0E9

Q34116553-82E39A61-89B6-47F7-91A3-4243F6B7CA3A

Q34116553-9375D60F-A6A8-43AA-AB86-976676C59EAB

Q34116553-A55818FE-EAFA-4E95-B5EB-19B73167871A

Q34116553-B618DABB-E3B8-49F8-96B8-06069F95D54C

Q34116553-BA8CAF78-6028-45D3-BC7F-F3DD5DF35C74

Q34116553-C62F8892-6783-48B2-908E-C7CD08754A43

P2860

Q34116553-030FD401-023C-4506-8E17-B43F1AB90E4D

Q34116553-0842B5A3-470A-4BD7-A14C-3BAB19DCCB1B

Q34116553-0AFA4FAA-47CE-4CB5-9759-3B4A76869D5D

Q34116553-20B934C8-9176-4277-B989-F448C57B33C1

Q34116553-2B16D70E-2D78-4FED-8635-F5854A7C2ACF

Q34116553-2C79BC55-300C-420A-AC61-C0C1A6A071C7

Q34116553-2D4C3324-0B74-40F5-A63F-24F1CB499C31

Q34116553-2DFAFC25-6F70-494B-ABC4-EC44891AFD0B

Q34116553-3230371B-3B95-46BE-8691-A8D3461D8CD8

Q34116553-3E4FCD1B-9F81-46E5-9F23-40F076028782

P304

Q34116553-F79ACEBF-8094-4473-8CF3-9A50E5B6D8AB

P31

Q34116553-DCB79CFA-484F-430F-9FFC-070F0EAFBC1C

P356

Q34116553-4089B4A7-AA00-455A-BB1C-66B4E9F6EDE3

P407

Q34116553-2B8FFCBA-8085-4109-A69B-5B54456D935B

P433

Q34116553-B160CF19-03C7-4152-B51A-BA0B60645ED7

P478

Q34116553-18538BBE-575E-4199-9656-58F319B63008

P50

Q34116553-4D188F1D-696E-4545-A298-161ADFB581E7

Q34116553-6FC6A637-877D-448F-A73F-2BD820903FE9

Q34116553-7151ACD2-5EF8-4370-8AAC-EB62BC238274

Q34116553-8E9A7CC7-32AE-4F18-8809-50D151D914FA

Q34116553-DE49ABDB-54F5-48C1-A9EE-CF24587768A3

Q34116553-F3A4E863-9239-41F5-86FA-867FE9B8F943

P577

Q34116553-1233F3E5-3C86-48A2-9D9A-A9EB0EB8DDE0

P698

Q34116553-F9B97C60-9596-4FBD-B2AC-C0AD4605BAC6

P932

Q34116553-CA8EF81A-45B3-40C0-BD92-63E173E182B6

P356

0008-5472.CAN-06-3297

P1433

Cancer Research

P1476

Determination of cancer risk a ...... riants by functional analysis.

@en

P2093

David Goldgar

http://www.w3.org/2001/XMLSchema#string

Edson Rondinelli

http://www.w3.org/2001/XMLSchema#string

Jennifer L Pickard-Brzosowicz

http://www.w3.org/2001/XMLSchema#string

Lisa Baumbach

http://www.w3.org/2001/XMLSchema#string

Luis Gayol

http://www.w3.org/2001/XMLSchema#string

Marcelo A Carvalho

http://www.w3.org/2001/XMLSchema#string

Rachel Karchin

http://www.w3.org/2001/XMLSchema#string

Ramona F Swaby

http://www.w3.org/2001/XMLSchema#string

Rebecca Sutphen

http://www.w3.org/2001/XMLSchema#string

Rosane Silva

http://www.w3.org/2001/XMLSchema#string

P2860

The allelic structure of common disease

Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure

The BRCT domain is a phospho-protein binding domain

Crystal structure of human 53BP1 BRCT domains bound to p53 tumour suppressor.

Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains

UCSF Chimera--a visualization system for exploratory research and analysis

Comparative protein modelling by satisfaction of spatial restraints

BRCT repeats as phosphopeptide-binding modules involved in protein targeting

Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling

P304

1494-1501

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1158/0008-5472.CAN-06-3297

http://www.w3.org/2001/XMLSchema#string

P407

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

67

http://www.w3.org/2001/XMLSchema#string

P50

Katherine L Nathanson

Siranoush Manoukian

Alvaro Monteiro

Fergus J. Couch

P577

2007-02-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

17308087

http://www.w3.org/2001/XMLSchema#string

P932

2936786

http://www.w3.org/2001/XMLSchema#string