SnapShot: Fanconi Anemia and Associated Proteins
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منابع مشابه
SnapShot: Fanconi Anemia and Associated Proteins
Fanconi anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes. It is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. The underlying cause is genomic instability resulting from the deficiency in replication-dependent DNA interstrand crosslink repair pathway commonly referred to as the Fanconi anemia-BRCA pathway. Th...
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A middle-aged man complained of symptomatic oral lesions. Family history was positive for Fanconi anemia (FA). An intraoral examination revealed generalized erythroleukoplakia with focal ulcerations affecting the palate (Figure 1). Differential diagnosis included lichenoid lesions, dysplasia and squamous cell carcinoma (SCC). Previous biopsies demonstrated mild to moderate dysplasia. The patien...
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What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...
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In recent years, Fanconi anemia (FA) has been the subject of intense investigations, primarily in the DNA repair research field. Many discoveries have led to the notion of a canonical pathway, termed the FA pathway, where all FA proteins function sequentially in different protein complexes to repair DNA cross-link damages. Although a detailed architecture of this DNA cross-link repair pathway i...
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Fanconi anemia (FA) pathway genes are important tumor suppressors whose best-characterized function is repair of damaged nuclear DNA. Here, we describe an essential role for FA genes in two forms of selective autophagy. Genetic deletion of Fancc blocks the autophagic clearance of viruses (virophagy) and increases susceptibility to lethal viral encephalitis. Fanconi anemia complementation group ...
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ژورنال
عنوان ژورنال: Cell
سال: 2015
ISSN: 0092-8674
DOI: 10.1016/j.cell.2014.12.031