Fanconi Anemia: Diagnosis and Treatment

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FA Cell Lines Are Hypersensitive to the ATMInhibitor, Ku55933Viability120 FANCE MutFANCE Corr10080604020FA-E CellsPe ercentage Contr rolFA-G Cells120FANCG MutFANCG Corr100806000 5 10 15 20 25Dose Ku55933 (uM)400 5 10 15 20Dose Ku55933(uM)Percentage Co ontrol120 FANCD2 MutFANCD2 Corr100806040FA-D2 Cells2000 5 10 15 20Dose Ku55933(uM)
FA Cell Lines Are Hypersensitive to the ATMInhibitor, Ku55933Viability120 FANCE MutFANCE Corr10080604020FA-E CellsPe ercentage Contr rolFA-G Cells120FANCG MutFANCG Corr1008060Percentage Co ontrol00 5 10 15 20 25Dose Ku55933 (uM)120 FANCD2 MutFANCD2 Corr10080604020FA-D2 Cells400 5 10 15 20Dose Ku55933(uM)Synthetic Lethal Relationshipsof DNA repair pathways arereciprocal00 5 10 15 20Dose Ku55933(uM)
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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
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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 70 and 71: SRT3025 (“SirT Diet”) treatment
Page 72 and 73: Cancer Cells are often defective in
Page 74 and 75: Cancer Cells are often defective in
Page 76 and 77: Since 5-20 % of solid tumors in the
Page 78 and 79: siRNA Targets Specifically Toxic to
Page 82: Conclusions:1) Conventional cancer
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Fanconi Anemia: Diagnosis and Treatment

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