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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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Hereditary Predispositions to Myelodysplastic Syndrome Mechanisms of interstrand DNA crosslink repair and human disorders A Comparative Analysis of Genetic and Epigenetic Events of Breast and Ovarian Cancer Related to Tumorigenesis Interplay between Fanconi anemia and homologous recombination pathways in genome integrity Update of the human and mouse Fanconi anemia genes Exploiting the Fanconi Anemia Pathway for Targeted Anti-Cancer Therapy The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 A never-ending story: the steadily growing family of the FA and FA-like genes AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier Human FAN1 promotes strand incision in 5'-flapped DNA complexed with RPA.Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2 Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.Deciphering the BRCA1 Tumor Suppressor Network.Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor Hawaii natural compounds are promising to reduce ovarian cancer deaths Replication Protein A (RPA) deficiency activates the Fanconi anemia DNA repair pathway.Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process.MERIT40 cooperates with BRCA2 to resolve DNA interstrand cross-links.Mutated Fanconi anemia pathway in non-Fanconi anemia cancers FANCA safeguards interphase and mitosis during hematopoiesis in vivo.In Vivo RNAi Screen Unveils PPARγ as a Regulator of Hematopoietic Stem Cell Homeostasis Fancb deficiency impairs hematopoietic stem cell function.Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice.Germline Mutations in Predisposition Genes in Pediatric Cancer.When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.Hyper-active non-homologous end joining selects for synthetic lethality resistant and pathological Fanconi anemia hematopoietic stem and progenitor cells.FANCM interacts with PCNA to promote replication traverse of DNA interstrand crosslinks.TGF-β Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia.

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

http://www.wikidata.org/entity/Q34451963

description

2014 nî lūn-bûn

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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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type

label

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

@ast

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

@nl

prefLabel

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

@en

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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2159-8290.CD-14-1156

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Cancer Discovery

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

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A Micheil Innes

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David A Dyment

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FORGE Canada Consortium

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Jacek Majewski

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Lei Tian

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Lisa A Moreau

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Marketta Kähkönen

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Roger A Greenberg

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Sarah L Sawyer

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University of Washington Centre for Mendelian Genomics

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P2860

Fast and accurate short read alignment with Burrows-Wheeler transform

Why does the bone marrow fail in Fanconi anemia?

Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

The Fanconi anaemia/BRCA pathway

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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135-142

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scholarly article

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10.1158/2159-8290.CD-14-1156

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2

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5

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Jeremy Schwartzentruber

Jukka S Moilanen

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2014-12-03T00:00:00Z

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25472942

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4320660

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