Table 2.

Cellular Abnormalities of FA

References
Sensitivity to cross-linking agents Schroeder, 1964 (47) 
 German, 1966 (48) 
Prolongation of G2 phase of cell cycle Kaiser, 1982 (49) 
 Kubbies, 1985 (51) 
Sensitivity to oxygen 
Grow poorly at ambient O2 Schlindler, 1988 (52) 
Overproduction of O2 radicals Korkina, 1992 (50) 
Deficient O2 radical defense Gille, 1987 (53) 
Deficiency in superoxide dismutase Joenje, 1979 (67); Mavelli, 1982 (68) 
Sensitivity to ionizing radiation (G2 specific) Bigelow, 1979 (54) 
Overproduction of tumor necrosis factor-α Rosselli, 1992 (55) 
Direct defects in DNA repair 
Accumulation of DNA adducts Takeuchi, 1993 (56) 
Defective in repair of DNA cross-links Fujiwara, 1977 (57) 
Genomic instability 
Spontaneous chromosome breakage Auerbach, 1989 (3) 
Hypermutable (by deletion mechanism) Papadopoulo, 1990 (58) 
Increased apoptosis Willingale-Theune, 1989 (59) 
 Kupfer, 1996 (60) 
 Wang, 1996 (64) 
Defective p53 induction Rosselli, 1995 (61) 
 Kupfer, 1996 (60) 
Intrinsic stem cell defect 
Decreased colony growth in vitro Daneshbod-Skibba, 1980 (62) 
 Alter, 1991 (10) 
Decreased gonadal stem cell survival Whitney, 1996 (63) 
References
Sensitivity to cross-linking agents Schroeder, 1964 (47) 
 German, 1966 (48) 
Prolongation of G2 phase of cell cycle Kaiser, 1982 (49) 
 Kubbies, 1985 (51) 
Sensitivity to oxygen 
Grow poorly at ambient O2 Schlindler, 1988 (52) 
Overproduction of O2 radicals Korkina, 1992 (50) 
Deficient O2 radical defense Gille, 1987 (53) 
Deficiency in superoxide dismutase Joenje, 1979 (67); Mavelli, 1982 (68) 
Sensitivity to ionizing radiation (G2 specific) Bigelow, 1979 (54) 
Overproduction of tumor necrosis factor-α Rosselli, 1992 (55) 
Direct defects in DNA repair 
Accumulation of DNA adducts Takeuchi, 1993 (56) 
Defective in repair of DNA cross-links Fujiwara, 1977 (57) 
Genomic instability 
Spontaneous chromosome breakage Auerbach, 1989 (3) 
Hypermutable (by deletion mechanism) Papadopoulo, 1990 (58) 
Increased apoptosis Willingale-Theune, 1989 (59) 
 Kupfer, 1996 (60) 
 Wang, 1996 (64) 
Defective p53 induction Rosselli, 1995 (61) 
 Kupfer, 1996 (60) 
Intrinsic stem cell defect 
Decreased colony growth in vitro Daneshbod-Skibba, 1980 (62) 
 Alter, 1991 (10) 
Decreased gonadal stem cell survival Whitney, 1996 (63) 

or Create an Account

Close Modal
Close Modal