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- W2097449485 endingPage "153" @default.
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- W2097449485 abstract "This review summarizes both historical and more recent data on the clinical, cellular and genetic features of Fanconi anemia (FA), a rare autosomal recessive disorder. FA patients are characterized by pancytopenia, congenital malformations, growth delay and an increased susceptibility to the development of malignancies, particularly acute myelogenous leukemia. FA cells show chromosomal fragility, slow growth and increased sensitivity to DNA crosslinking agents. FA can be caused by defects in any one of at least four genes. Two general hypotheses have been proposed to explain the underlying defect: loss of a DNA repair function or of a step in the defense toward oxygen toxicity. After many attempts to clone the FA genes, the first one, that defective in group C, has been cloned by complementation of the increased sensitivity of FA(C) cells to mitomycin C and diepoxybutane. This gene (FACC) codes for a novel protein and is ubiquitously expressed. Mutations in various FA(C) patients that cause loss of function have been identified. The review concludes by suggesting directions for future research in FA." @default.
- W2097449485 created "2016-06-24" @default.
- W2097449485 creator A5010630785 @default.
- W2097449485 creator A5080709192 @default.
- W2097449485 creator A5091313128 @default.
- W2097449485 date "1994-01-01" @default.
- W2097449485 modified "2023-09-23" @default.
- W2097449485 title "Fanconi anemia revisited: Old ideas and new advances" @default.
- W2097449485 cites W135474444 @default.
- W2097449485 cites W1522960248 @default.
- W2097449485 cites W1528470287 @default.
- W2097449485 cites W1529367436 @default.
- W2097449485 cites W1549538719 @default.
- W2097449485 cites W1562232013 @default.
- W2097449485 cites W1964274155 @default.
- W2097449485 cites W1965175223 @default.
- W2097449485 cites W1965687296 @default.
- W2097449485 cites W1969887535 @default.
- W2097449485 cites W1970042838 @default.
- W2097449485 cites W1971638420 @default.
- W2097449485 cites W1971858212 @default.
- W2097449485 cites W1974545699 @default.
- W2097449485 cites W1975141571 @default.
- W2097449485 cites W1977542741 @default.
- W2097449485 cites W1988871512 @default.
- W2097449485 cites W1997663877 @default.
- W2097449485 cites W1998325440 @default.
- W2097449485 cites W1998821749 @default.
- W2097449485 cites W1999725652 @default.
- W2097449485 cites W2001359585 @default.
- W2097449485 cites W2002184643 @default.
- W2097449485 cites W2002689272 @default.
- W2097449485 cites W2003618279 @default.
- W2097449485 cites W2011794759 @default.
- W2097449485 cites W2012110472 @default.
- W2097449485 cites W2015792141 @default.
- W2097449485 cites W2016785483 @default.
- W2097449485 cites W2018235365 @default.
- W2097449485 cites W2020733732 @default.
- W2097449485 cites W2028661140 @default.
- W2097449485 cites W2028889985 @default.
- W2097449485 cites W2029026115 @default.
- W2097449485 cites W2029222548 @default.
- W2097449485 cites W2029418566 @default.
- W2097449485 cites W2029482780 @default.
- W2097449485 cites W2031568796 @default.
- W2097449485 cites W2031794366 @default.
- W2097449485 cites W2032712154 @default.
- W2097449485 cites W2040684754 @default.
- W2097449485 cites W2043942270 @default.
- W2097449485 cites W2047963554 @default.
- W2097449485 cites W2048590349 @default.
- W2097449485 cites W205645674 @default.
- W2097449485 cites W2060916879 @default.
- W2097449485 cites W2065417936 @default.
- W2097449485 cites W2065505974 @default.
- W2097449485 cites W2065783389 @default.
- W2097449485 cites W2067650156 @default.
- W2097449485 cites W2068888078 @default.
- W2097449485 cites W2070790643 @default.
- W2097449485 cites W2072397306 @default.
- W2097449485 cites W2073923918 @default.
- W2097449485 cites W2078411092 @default.
- W2097449485 cites W2080341484 @default.
- W2097449485 cites W2082172922 @default.
- W2097449485 cites W2083226149 @default.
- W2097449485 cites W2085049720 @default.
- W2097449485 cites W2087048860 @default.
- W2097449485 cites W2089076560 @default.
- W2097449485 cites W2092820789 @default.
- W2097449485 cites W2093145959 @default.
- W2097449485 cites W2093503717 @default.
- W2097449485 cites W2095178139 @default.
- W2097449485 cites W2095400027 @default.
- W2097449485 cites W2095492449 @default.
- W2097449485 cites W2107843987 @default.
- W2097449485 cites W2112473094 @default.
- W2097449485 cites W2120634497 @default.
- W2097449485 cites W2156476071 @default.
- W2097449485 cites W2159103592 @default.
- W2097449485 cites W2206169755 @default.
- W2097449485 cites W2243632492 @default.
- W2097449485 cites W2328056136 @default.
- W2097449485 cites W2332866917 @default.
- W2097449485 cites W2403384206 @default.
- W2097449485 cites W2414505687 @default.
- W2097449485 cites W2884367205 @default.
- W2097449485 cites W327514080 @default.
- W2097449485 cites W4213100988 @default.
- W2097449485 cites W4247766248 @default.
- W2097449485 cites W4298243203 @default.
- W2097449485 cites W57327419 @default.
- W2097449485 cites W85572580 @default.
- W2097449485 doi "https://doi.org/10.1002/stem.5530120202" @default.
- W2097449485 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8199559" @default.
- W2097449485 hasPublicationYear "1994" @default.
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