Cellular function of the Fanconi anemia pathway
نویسندگان
چکیده
منابع مشابه
The 13th Fanconi Anemia Gene Identified: FANCI – Importance of the ‘Fanconi Anemia Pathway’ for Cellular Oncology
After quite some scientific debate over the last decade, it has become evident that chromosomal instability is a major driving force in the pathogenesis of the vast majority of human cancers [1–3]. In addition, different patterns of chromosomal instability appear to have different clinical implications [4,5]. Yet, unlike for the less common form of genomic instability caused by failing DNA mism...
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An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research. However, there is limited information about the relationship between the mutated FA pathway and the cancer...
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Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failure, hypersensitivity to DNA cross-linking agents, chromosomal instability and susceptibility to cancer. At least 12 genetic subtypes have been described (FA-A, B, C, D1, D2, E, F, G, I, J, L, M) and all except FA-I have been linked to a...
متن کاملFrequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملBLM promotes the activation of Fanconi Anemia signaling pathway
Mutations in the human RecQ helicase, BLM, causes Bloom Syndrome, which is a rare autosomal recessive disorder and characterized by genomic instability and an increased risk of cancer. Fanconi Anemia (FA), resulting from mutations in any of the 19 known FA genes and those yet to be known, is also characterized by chromosomal instability and a high incidence of cancer. BLM helicase and FA protei...
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ژورنال
عنوان ژورنال: Nature Medicine
سال: 2001
ISSN: 1078-8956,1546-170X
DOI: 10.1038/nm1201-1259a