Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
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Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium InternatiInteractive Roles of DNA Helicases and Translocases with the Single-Stranded DNA Binding Protein RPA in Nucleic Acid Metabolism.Maintenance of genome stability by Fanconi anemia proteins.Common Chemical Inductors of Replication Stress: Focus on Cell-Based Studies.Genetic predisposition to hematologic malignancies: management and surveillance.Recruitment and positioning determine the specific role of the XPF-ERCC1 endonuclease in interstrand crosslink repair.Overlooked FANCD2 variant encodes a promising, portent tumor suppressor, and alternative polyadenylation contributes to its expression.DNA damage response and hematological malignancy.SNM1B/Apollo in the DNA damage response and telomere maintenanceDormant origins as a built-in safeguard in eukaryotic DNA replication against genome instability and disease development.Emerging functions of the Fanconi anemia pathway at a glance.Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.Yeast Hrq1 shares structural and functional homology with the disease-linked human RecQ4 helicase.DNA damage response and cancer therapeutics through the lens of the Fanconi Anemia DNA repair pathway.Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production.Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Fanconi Anemia Signaling and Cancer.Comprehensive review of genetic factors contributing to head and neck squamous cell carcinoma development in low-risk, nontraditional patients.Cell-Cycle-Specific Function of p53 in Fanconi Anemia Hematopoietic Stem and Progenitor Cell Proliferation.Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage.Spectrin and its interacting partners in nuclear structure and function.A small molecule p53 activator attenuates Fanconi anemia leukemic stem cell proliferation.An uncommon t(9;11)(p24;q22) with monoallelic loss of and genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemiaGermline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging ConceptsA minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repairRare Genetic Diseases with Defects in DNA Repair: Opportunities and Challenges in Orphan Drug Development for Targeted Cancer Therapy
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Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
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2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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2016年學術文章
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name
Recent discoveries in the mole ...... ilure syndrome Fanconi anemia.
@en
type
label
Recent discoveries in the mole ...... ilure syndrome Fanconi anemia.
@en
prefLabel
Recent discoveries in the mole ...... ilure syndrome Fanconi anemia.
@en
P2093
P2860
P1433
P1476
Recent discoveries in the mole ...... ilure syndrome Fanconi anemia.
@en
P2093
Akiko Shimamura
Niall G Howlett
Nicholas E Mamrak
P2860
P356
10.1016/J.BLRE.2016.10.002
P577
2016-10-13T00:00:00Z