Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. - Wikidata - thesis-toulmin - TriplyDB

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

http://www.wikidata.org/entity/Q34870512

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Analyzing effects of naturally occurring missense mutations FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway Treatment of FANCA cells with resveratrol and N-acetylcysteine: a comparative study Integration of somatic mutation, expression and functional data reveals potential driver genes predictive of breast cancer survival.Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Hypersensitivity to chemoradiation in FANCA carrier with cervical carcinoma-A case report and review of the literature.FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2 FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients DNA interstrand crosslink repair and cancer.High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.Genetic counseling for Fanconi anemia: crosslinking disciplines.HSP90 Shapes the Consequences of Human Genetic Variation.A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.Increased levels of chromosomal aberrations and DNA damage in a group of workers exposed to formaldehyde.Savior siblings and Fanconi anemia: analysis of success rates from the family's perspective.Targeted gene therapy and cell reprogramming in Fanconi anemia.FANCA and FANCG are the major Fanconi anemia genes in the Korean population.Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients.Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.Perspectives on gene therapy for Fanconi anemia

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

http://www.wikidata.org/entity/Q34870512

description

2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

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Angela Figuera

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Angeles Dasí

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Antonia Rodríguez-Villa

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Antonio Molinés

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Arturo Muñoz

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Cristina Beléndez

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Detlev Schindler

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Elena Cela

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Elsa Callén

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Francis P Lach

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P2860

Chromatin association of human origin recognition complex, cdc6, and minichromosome maintenance proteins during the cell cycle: assembly of prereplication complexes in late mitosis

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

How the fanconi anemia pathway guards the genome

Sequence variation in the Fanconi anemia gene FAA

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex

The emerging genetic and molecular basis of Fanconi anaemia

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants

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3759-3769

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10.1182/BLOOD-2010-08-299917

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14

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Cristina Diaz De Heredia

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2011-01-27T00:00:00Z

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