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期刊名称: Blood Reviews
Volume:31    Issue:3        Page:93-99
ISSN:0268-960X

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia期刊论文

作者: Mamrak Nicholas E.|Shimamura Akiko|Howlett Niall G
DOI:10.1016/j.blre.2016.10.002

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页码: 93-99
被引频次: 43
出版者: Elsevier Ltd,CHURCHILL LIVINGSTONE,Elsevier B.V
期刊名称: Blood Reviews
ISSN: 0268-960X
卷期: Volume:31    Issue:3
语言: English
摘要: Abstract Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33 years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified— RAD51/FANCR , BRCA1/FANCS , UBE2T/FANCT , XRCC2/FANCU , and REV7/FANCV —bringing the total number of disease-causing genes to 21. This review summarizes the discovery of these new FA genes and describes how these proteins integrate into the FA-BRCA pathway to maintain genome stability and critically prevent early-onset BMF and cancer.
相关主题: Hematology, Oncology and Palliative Medicine, Ubiquitin, Genome instability, Fanconi anemia, DNA repair, Homologous recombination, MONOUBIQUITINATED FANCD2, 5 RAD51 PARALOGS, OVARIAN-CANCER, CORE COMPLEX, TUMOR SUPPRESSORS, DNA-POLYMERASE-ZETA, INTERSTRAND CROSS-LINK, CANCER SUSCEPTIBILITY GENE, HEMATOLOGY, FAMILIAL BREAST-CANCER, Rad51 Recombinase - metabolism, Genomic Instability, Mad2 Proteins - metabolism, Rad51 Recombinase - genetics, Signal Transduction, Fanconi Anemia - metabolism, Humans, Fanconi Anemia Complementation Group Proteins - genetics, Ubiquitin - metabolism, Homologous Recombination, Ubiquitin-Conjugating Enzymes - genetics, DNA-Binding Proteins - genetics, DNA-Binding Proteins - metabolism, BRCA1 Protein - genetics, Fanconi Anemia Complementation Group Proteins - metabolism, Ubiquitin-Conjugating Enzymes - metabolism, BRCA1 Protein - metabolism, Bone Marrow - metabolism, Bone Marrow - pathology, Fanconi Anemia - etiology, Mad2 Proteins - genetics, Fanconi Anemia - pathology, DNA Damage, Mutation, Disease susceptibility, Genetic aspects, Fanconi's anemia, Proteins, DNA damage, Genomics,

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