Fanconi Anemia: Diagnosis and Treatment

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In vivo competitive repopulation assay:Fancc -/-3 mo.NACtreatmentBonemarrowKSL cells(2K)1200 RadBonemarrowFancd2 -/-ROSA26 Tg/+KSL cells(2K)6 monthsblood cellsGenotyping PCR
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 50 and 51: Other compounds that have been• C
Page 52 and 53: ATMATMchloroquinePATMPPoxidative st
Page 54: Models for hematopoietic defectsin
Page 59 and 60: Reduced colony forming ability
Page 62: Hematopoietic defects in Fancd2-/-m
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

Fanconi Anemia: Diagnosis and Treatment

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