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) |