Download Molecular Mechanisms of Fanconi Anemia (Medical Intelligence by Shamim Ahmad, Sandra Kirk PDF

By Shamim Ahmad, Sandra Kirk

Molecular Mechanisms of Fanconi Anemia will provide examine scholars a platform for additional research, and act as a resource of knowledge concerning experimental layout. Clinicians will find this name invaluable for its accomplished description of Fanconi Anemia and data at the newest molecular theories underlying its motives.

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Extra resources for Molecular Mechanisms of Fanconi Anemia (Medical Intelligence Unit)

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Ex vivo culture of Fancc -/- stem/ progenitor cells predisposes cells to undergo apoptosis and surviving stem/progenitor cells display cytogenetic abnormalities and an increased risk of malignancy. Blood 2005; 105(9):3465-71. 39. Gibson RA, Morgan N V , Goldstein LH et al. Novel mutations and polymorphisms in the Fanconi anemia group C gene. H u m Mutat 1996; 8(2): 140-148. 40. Pang Q, Christianson TA, Keeble W et al. T h e Fanconi anemia complementation group C gene product: Structural evidence of multifunctionality.

One fijnction of the core complex has been deduced by nicely-designed studies on isogenic FA mutant cell lines. These studies have clarified an emerging relationship between FANG proteins and some functions of BRCAl, BRCA2 and Rad51. First, as mentioned above, certain BRCA2 (FANCDl) mutations can result in the FA phenotype (FA-Dl)^'' and the mutations result in failure of Rad51 to localize in damage-induced nuclear foci. '^ Therefore, accumulation of BRCAl and Rad51 in damage-induced nuclear foci is required to protect cells from damage induced by cross-linking agents.

Phosphorylation of Fanconi anemia protein, FANCA, is regulated by Akt kinase. Biochem Biophys Res C o m m u n 2002; 291(3):628-634. 26 Otsuki T , Young DB, Sasaki D T et al. Fanconi anemia protein complex is a novel target of the IKK signalsome. J Cell Biochem 2002; 86(4):613-623. 27. Otsuki T , Furukawa Y, Ikeda K et al. Fanconi anemia protein, FANCA, associates with B R G l , a component of the human SWI/SNF complex. H u m Mol Genet 2 0 0 1 ; 10(23):2651-2660. 28. Pang Q, Keeble W, Christianson TA et al.

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