FA, Fanconi anemia
A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
... Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to ...in FA patients ...
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Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients
... Fanconi anemia (FA) is a rare inherited genetic syndrome with diverse clinical manifestations, including develop- mental defects, short stature, bone marrow failure, and a high risk of ...of ...
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The Human Papillomavirus Type 16 E7 Oncoprotein Activates the Fanconi Anemia (FA) Pathway and Causes Accelerated Chromosomal Instability in FA Cells
... Fanconi anemia (FA) is a rare autosomal recessive or X- linked cancer susceptibility syndrome characterized by congen- ital abnormalities, progressive bone marrow failure, and cellu- lar sensitivity ...
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First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease
... In FA-D2 pa- tients in the severe stage of the disease (group A) the most frequent breakpoints were present within the CFSs regions (FRA14G, FRA5O, FRA5K and FRA3C, Table 2) except for patient 1 in group A where ...
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RNF4 mediated polyubiquitination regulates the Fanconi anemia/BRCA pathway
... with FA with an atypical clinical phenotype (Figure ...of FA (23, 24). Since sub- type A is the most prevalent subtype of FA, accounting for 60% to 70% of patients with FA (25), we next ...
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The Fanconi Anemia Pathway Limits Human Papillomavirus Replication
... understood. Fanconi anemia (FA) is a genome instability syndrome characterized at least in part by extreme susceptibility to ...SCCs. FA results from mutations in one of 15 genes in the ...
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Fanconi anemia signaling network regulates the spindle assembly checkpoint
... between FA proteins and the key mitotic cyclin-dependent kinase CDK1 (32, 33), while other work established an essential role for CDK1 in the SAC ...an FA protein (35). Recently, it was proposed that some ...
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BLM promotes the activation of Fanconi Anemia signaling pathway
... The motif VI of BLM together with those of I, II, III, IV and VI are generally known as the binding pocket for ATP binding and hydrolysis [31]. Although, its exact role in BLM functions is rarely discussed. Our study is ...
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Impaired mitophagy in Fanconi anemia is dependent on mitochondrial fission
... in FA patients who are at a greater risk of developing acute myeloid leukemia (AML) and head and neck squamous cell ...in FA may be linked to cancer ...that FA cells were rather pre-apoptotic ...for ...
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Cytokinesis failure and attenuation: new findings in Fanconi anemia
... disorder Fanconi anemia (FA) are progressive bone marrow failure and susceptibility to ...with FA, as it usually occurs earlier in life than cancer ...of FA, the origin of the bone ...
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Evaluation of Growth and Hormonal Status in Patients Referred to the International Fanconi Anemia Registry
... of FA, primarily manifesting as glucose/insulin abnor- malities, GH insufficiency, and ...of FA, 23 patients (43%) were within 2 standard deviations, and 5 of these (9% of the total) were actually above the ...
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Fanconi Anemia Genes and Reactive Oxygen Species in Cancer Development
... of FA genes in protection of FA cells from oxidative ...that FA genes were able to suppress ROS ...in FA patients due to the increased oxidative DNA damage in the promoters of antioxidant ...
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Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia
... an FA phenotype as has been demonstrated by mutations of genes contributing to HR that are also FA genes ...reported FA genes involved in HR amounts to a remarkable total of 7, which act at different ...
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Case series of Fanconi anemia in Hevi pediatric hospital-Duhok
... About half of the patients (53.3%) had small faces (microcephaly) and small eyes (microphthalmia) as in (Figure 5). Renal abnormalities, including unilateral renal aplasia, renal hypoplasia, or horseshoe kidney were ...
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Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells
... While necessarily speculative, one attractive possibility for the function of FAC might be as a “sensor” for a specific class of genotoxic agents. Consistent with this model are the subcel- lular location of FAC, the ...
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Skin and Mucosal Human Papillomavirus Seroprevalence in Persons with Fanconi Anemia
... with FA can be explained by not yet having completed the vaccination series, by having completed the vaccination series sev- eral months in the past, by having relative immunosuppression, or by inaccurate recall ...
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Oral squamous cell carcinoma in patients with Fanconi anemia: A case series
... Introduction: Fanconi anemia (FA) is a rare inherited disorder characterized by progressive bone marrow failure, congenital malformations and increased susceptibility to malignancies particularly ...
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An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia
... Rochowski et al., (2012) hypothesized that unique bone marrow cytogenetic clones may distinguish patients with FA and AML from patients with de novo AML. Some chromosomal abnormalities as the gain of 1q, 3q, 13q ...
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Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis
... Fanconi anemia (FA), the most frequent form of inher- ited bone marrow failure (BMF), is a recessive/X linked disorder caused by biallelic mutations in one of the 19 FA genes so far ...
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Molecular pathogenesis and clinical management of Fanconi anemia
... the FA pathway in cytokinesis. The primary DNA repair func- tion of the FA pathway is exerted during S ...of FA proteins may extend to M phase, especially in cytokinesis. FA cells exhibit ...
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