Fanconi Anemia: Diagnosis and Treatment

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Hematopoietic defects in Fancd2-/-mice• Reduced numbers of KLS stem cells• Reduced repopulation ability• Reduced CFU-S• Reduced d colony forming ability (cobblestoneassay)• Decreased pool of quiescent (G0) stem cells
Page 3:
Fanconi anemia history• Named aft
Page 6 and 7:
Image courtesyDr Blanche Alter
Page 9 and 10:
Image courtesyDr Blanche Alter
Page 12 and 13: Fanconi Anemia: Cellular phenotype
Page 14 and 15: Chromosome breakage read-outML# Ref
Page 16: The Fifteen Fanconi Anemia GenesGen
Page 19: The Fifteen FA proteins regulate DN
Page 24 and 25: BRCA2 is a Fanconi Anemia Gene (D1)
Page 26 and 27: In BRCA2 kindreds:dParadoxBRCA2 (+/
Page 28 and 29: Natural history of FA• Birth defe
Page 32 and 33: Pathophysiology• DNA repair Bone
Page 34 and 35: Treatment of Fanconi AnemiaAndrogen
Page 36 and 37: 100%90%Unrelated Donor BMT for FASu
Page 38 and 39: New treatments are badly needed•
Page 40 and 41: Alan D’AndreaJohn PostlethwaitMar
Page 42: mammary AC10 moovarian AC13 momamma
Page 45: Properties of tempol• Superoxide
Page 49 and 50: Conclusions• The SOD mimetic temp
Page 51 and 52: From:Maclean KH, Dorsey FC, Clevela
Page 53 and 54: Mean tumor-free survival:Placebo: 1
Page 57: Reduced numbers of stem cells
Page 60: Changes in cell cycle status of ste
Page 71 and 72: Conclusions• Fancd2 mutant mice h
Page 73 and 74: Cancer Cells are often defective in
Page 75 and 76: Using Synthetic Lethalityto treat t
Page 77 and 78: Screening Approach to Identify Gene
Page 79 and 80: siRNA Targets Specifically Toxic to
Page 81 and 82: FA Cell Lines Are Hypersensitive to
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Fanconi Anemia: Diagnosis and Treatment

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