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A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents and cancer predisposition. Recent evidence for the interactions ofExpand
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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential forExpand
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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenicExpand
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Lightening up the UV response by identification of the arylhydrocarbon receptor as a cytoplasmatic target for ultraviolet B radiation
UVB radiation-induced signaling in mammalian cells involves two major pathways: one that is initiated through the generation of DNA photoproducts in the nucleus and a second one that occursExpand
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FANCI is a second monoubiquitinated member of the Fanconi anemia pathway
Activation of the Fanconi anemia (FA) DNA damage–response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 proteinExpand
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Mutation of the RAD51C gene in a Fanconi anemia–like disorder
Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers. We haveExpand
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Mutations of the SLX4 gene in Fanconi anemia
Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solidExpand
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Identification of primitive human hematopoietic cells capable of repopulating NOD/SCID mouse bone marrow: Implications for gene therapy
The development of stem–cell gene therapy is hindered by the absence of repopulation assays for primitive human hematopoietic cells. Current methods of gene transfer rely on in vitro colony–formingExpand
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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Seven Fanconi anemia–associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targetingExpand
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Survivin and its prognostic significance in pediatric acute B-cell precursor lymphoblastic leukemia.
BACKGROUND AND OBJECTIVES Impaired apoptosis, mediated by members of the inhibitor of apoptosis proteins (IAP) family such as survivin, is thought to contribute to leukemic cell survival. In contrastExpand
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