-
1
-
-
0344085311
-
Fanconi anemia
-
(Scriver, C., Beaudet, A., Sly, W. and Valle, D., eds), CD-ROM, McGraw-Hill
-
Buchwald, M., Joenje, H. and Auerbach, A. (1997) Fanconi anemia, in The Metabolic and Molecular Bases of Inherited Disease (Scriver, C., Beaudet, A., Sly, W. and Valle, D., eds), CD-ROM, McGraw-Hill.
-
(1997)
In the Metabolic and Molecular Bases of Inherited Disease
-
-
Buchwald, M.1
Joenje, H.2
Auerbach, A.3
-
2
-
-
0030884238
-
Molecular biology of Fanconi anemia: Implications for diagnosis and therapy
-
D'Andrea A.D., Grompe M. Molecular biology of Fanconi anemia: implications for diagnosis and therapy. Blood. 90:1997;1725-1736.
-
(1997)
Blood
, vol.90
, pp. 1725-1736
-
-
D'Andrea, A.D.1
Grompe, M.2
-
3
-
-
0027861014
-
Fanconi anemia diagnosis and the diepoxybutane (DEB) test
-
Auerbach A.D. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp. Hematol. 21:1993;731-733.
-
(1993)
Exp. Hematol.
, vol.21
, pp. 731-733
-
-
Auerbach, A.D.1
-
4
-
-
16944362011
-
Evidence for at least eight Fanconi anemia genes
-
Joenje H.et al. Evidence for at least eight Fanconi anemia genes. Am. J. Hum. Genet. 61:1997;940-944.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 940-944
-
-
Joenje, H.1
-
5
-
-
0026521238
-
Cloning of cDNAs for Fanconi's anaemia by functional complementation
-
Strathdee C.A., Gavish H., Shannon W.R., Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 356:1992;763-767.
-
(1992)
Nature
, vol.356
, pp. 763-767
-
-
Strathdee, C.A.1
Gavish, H.2
Shannon, W.R.3
Buchwald, M.4
-
6
-
-
1842337370
-
Expression cloning of a cDNA for the major Fanconi anemia gene, FAA
-
Lo Ten Foe J.et al. Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nat. Genet. 14:1996;320-323.
-
(1996)
Nat. Genet.
, vol.14
, pp. 320-323
-
-
Lo Ten Foe, J.1
-
7
-
-
0030293337
-
Positional cloning of the Fanconi anaemia group A gene
-
The Fanconi Anaemia Breast Cancer Consortium Positional cloning of the Fanconi anaemia group A gene. Nat. Genet. 14:1996;324-328.
-
(1996)
Nat. Genet.
, vol.14
, pp. 324-328
-
-
The Fanconi Anaemia Breast Cancer Consortium1
-
8
-
-
6844257552
-
Cloning of the bovine and rat Fanconi anemia group C cDNA
-
Wong J.C.Y., Buchwald M. Cloning of the bovine and rat Fanconi anemia group C cDNA. Mamm. Genome. 8:1997;522-525.
-
(1997)
Mamm. Genome
, vol.8
, pp. 522-525
-
-
Wong, J.C.Y.1
Buchwald, M.2
-
9
-
-
0027999023
-
Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells
-
Youssoufian H. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc. Natl. Acad. Sci. U. S. A. 91:1994;7975-7979.
-
(1994)
Proc. Natl. Acad. Sci. U. S. A.
, vol.91
, pp. 7975-7979
-
-
Youssoufian, H.1
-
10
-
-
0030667925
-
The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex
-
Kupfer G.M.et al. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat. Genet. 17:1997;487-490.
-
(1997)
Nat. Genet.
, vol.17
, pp. 487-490
-
-
Kupfer, G.M.1
-
11
-
-
17544391773
-
The genomic organization of the Fanconi anemia group A (FAA) gene
-
Ianzano L.et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics. 41:1997;309-314.
-
(1997)
Genomics
, vol.41
, pp. 309-314
-
-
Ianzano, L.1
-
12
-
-
0030735797
-
Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells
-
Kruyt F.A.et al. Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells. Blood. 90:1997;3288-3295.
-
(1997)
Blood
, vol.90
, pp. 3288-3295
-
-
Kruyt, F.A.1
-
13
-
-
0028857959
-
Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p
-
Whitney M.et al. Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nat. Genet. 11:1995;341-343.
-
(1995)
Nat. Genet.
, vol.11
, pp. 341-343
-
-
Whitney, M.1
-
14
-
-
0030960336
-
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: An international Fanconi anemia registry study
-
Gillio A.P.et al. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an international Fanconi anemia registry study. Blood. 90:1997;105-110.
-
(1997)
Blood
, vol.90
, pp. 105-110
-
-
Gillio, A.P.1
-
15
-
-
0030028557
-
Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele
-
Youssoufian H., Li Y., Martin M.E., Buchwald M. Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J. Clin. Invest. 97:1996;957-962.
-
(1996)
J. Clin. Invest.
, vol.97
, pp. 957-962
-
-
Youssoufian, H.1
Li, Y.2
Martin, M.E.3
Buchwald, M.4
-
16
-
-
0029988091
-
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity
-
Yamashita T.et al. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood. 87:1996;4424-4432.
-
(1996)
Blood
, vol.87
, pp. 4424-4432
-
-
Yamashita, T.1
-
17
-
-
0030695440
-
Sequence variation in the Fanconi anemia gene FAA
-
Levran O.et al. Sequence variation in the Fanconi anemia gene FAA. Proc. Natl. Acad. Sci. U. S. A. 94:1997;13051-13056.
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 13051-13056
-
-
Levran, O.1
-
18
-
-
0031584082
-
Correction of the DNA repair defect in Fanconi anemia complementation groups A and D cells
-
Lambert M., Tsongalis G., Lambert W., Parrish D. Correction of the DNA repair defect in Fanconi anemia complementation groups A and D cells. Biochem. Biophys. Res. Commun. 230:1997;587-591.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.230
, pp. 587-591
-
-
Lambert, M.1
Tsongalis, G.2
Lambert, W.3
Parrish, D.4
-
19
-
-
0029863680
-
Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells
-
Youssoufian H. Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. J. Clin. Invest. 97:1996;2003-2010.
-
(1996)
J. Clin. Invest.
, vol.97
, pp. 2003-2010
-
-
Youssoufian, H.1
-
20
-
-
0030831350
-
The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2
-
Kupfer G.M.et al. The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood. 90:1997;1047-1054.
-
(1997)
Blood
, vol.90
, pp. 1047-1054
-
-
Kupfer, G.M.1
-
21
-
-
0030063534
-
Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines
-
Kruyt F.A., Dijkmans L.M., van den Berg T.K., Joenje H. Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood. 87:1996;938-948.
-
(1996)
Blood
, vol.87
, pp. 938-948
-
-
Kruyt, F.A.1
Dijkmans, L.M.2
Van Den Berg, T.K.3
Joenje, H.4
-
22
-
-
0029847786
-
The Fanconi anemia complementation group C protein corrects DNA interstrand cross-link-specific apoptosis in HSC536N cells
-
Marathi U.K., Howell S.R., Ashmun R.A., Brent T.P. The Fanconi anemia complementation group C protein corrects DNA interstrand cross-link-specific apoptosis in HSC536N cells. Blood. 88:1996;2298-2305.
-
(1996)
Blood
, vol.88
, pp. 2298-2305
-
-
Marathi, U.K.1
Howell, S.R.2
Ashmun, R.A.3
Brent, T.P.4
-
23
-
-
0030845529
-
Inactivation of the Fanconi anemia group C gene augments interferon-γ-induced apoptotic responses in hematopoietic cells
-
Rathbun R.K.et al. Inactivation of the Fanconi anemia group C gene augments interferon-γ-induced apoptotic responses in hematopoietic cells. Blood. 90:1997;974-985.
-
(1997)
Blood
, vol.90
, pp. 974-985
-
-
Rathbun, R.K.1
-
24
-
-
0029857336
-
Suppression of apoptosis in hematopoietic factor-dependent progenitor cell lines by expression of the FAC gene
-
Cumming R.C., Liu J.M., Youssoufian H., Buchwald M. Suppression of apoptosis in hematopoietic factor-dependent progenitor cell lines by expression of the FAC gene. Blood. 88:1996;4558-4567.
-
(1996)
Blood
, vol.88
, pp. 4558-4567
-
-
Cumming, R.C.1
Liu, J.M.2
Youssoufian, H.3
Buchwald, M.4
-
25
-
-
0030789595
-
Resistance to apoptosis in Fanconi's anaemia. An ex vivo study in peripheral blood mononuclear cells
-
Monti D.et al. Resistance to apoptosis in Fanconi's anaemia. An ex vivo study in peripheral blood mononuclear cells. FEBS Lett. 409:1997;365-369.
-
(1997)
FEBS Lett.
, vol.409
, pp. 365-369
-
-
Monti, D.1
-
26
-
-
0030953165
-
Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome
-
Ridet A.et al. Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome. Cancer Res. 57:1997;1722-1730.
-
(1997)
Cancer Res.
, vol.57
, pp. 1722-1730
-
-
Ridet, A.1
-
27
-
-
0027204610
-
Increased formation of 8-hydroxydeoxyguanosine, an oxidative DNA damage, in lymphoblasts from Fanconi's anemia patients due to possible catalase deficiency
-
Takeuchi T., Morimoto K. Increased formation of 8-hydroxydeoxyguanosine, an oxidative DNA damage, in lymphoblasts from Fanconi's anemia patients due to possible catalase deficiency. Carcinogenesis. 14:1993;1115-1120.
-
(1993)
Carcinogenesis
, vol.14
, pp. 1115-1120
-
-
Takeuchi, T.1
Morimoto, K.2
-
28
-
-
0031039380
-
The sensitivity of Fanconi anaemia group C cells to apoptosis induced by mitomycin C is due to oxygen radical generation, not DNA crosslinking
-
Clarke A., Philpott N., Gordon-Smith E., Rutherford T. The sensitivity of Fanconi anaemia group C cells to apoptosis induced by mitomycin C is due to oxygen radical generation, not DNA crosslinking. Br. J. Haematol. 96:1997;240-247.
-
(1997)
Br. J. Haematol.
, vol.96
, pp. 240-247
-
-
Clarke, A.1
Philpott, N.2
Gordon-Smith, E.3
Rutherford, T.4
-
29
-
-
0029549005
-
Expression of the Fanconi anemia gene FAC in human cell lines: Lack of effect of oxygen tension
-
Joenje H.et al. Expression of the Fanconi anemia gene FAC in human cell lines: lack of effect of oxygen tension. Blood Cells Mol. Dis. 21:1995;182-191.
-
(1995)
Blood Cells Mol. Dis.
, vol.21
, pp. 182-191
-
-
Joenje, H.1
-
30
-
-
1842405395
-
The role of oxygen metabolism for the pathological phenotype of Fanconi anemia
-
Ruppitsch W.et al. The role of oxygen metabolism for the pathological phenotype of Fanconi anemia. Hum. Genet. 99:1997;710-719.
-
(1997)
Hum. Genet.
, vol.99
, pp. 710-719
-
-
Ruppitsch, W.1
-
31
-
-
0026547984
-
Abnormal lymphokine production: A novel feature of the genetic disease Fanconi anemia. I. Involvement of interleukin-6
-
Rosselli F., Sanceau J., Wietzerbin J., Moustacchi E. Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. I. Involvement of interleukin-6. Hum. Genet. 89:1992;42-48.
-
(1992)
Hum. Genet.
, vol.89
, pp. 42-48
-
-
Rosselli, F.1
Sanceau, J.2
Wietzerbin, J.3
Moustacchi, E.4
-
32
-
-
0028123475
-
Abnormal lymphokine production: A novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha
-
Rosselli F.et al. Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood. 83:1994;1216-1225.
-
(1994)
Blood
, vol.83
, pp. 1216-1225
-
-
Rosselli, F.1
-
33
-
-
8944258558
-
Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene
-
Whitney M.A.et al. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood. 88:1996;49-58.
-
(1996)
Blood
, vol.88
, pp. 49-58
-
-
Whitney, M.A.1
-
34
-
-
13344278020
-
Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia
-
Chen M.et al. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat. Genet. 12:1996;448-451.
-
(1996)
Nat. Genet.
, vol.12
, pp. 448-451
-
-
Chen, M.1
-
35
-
-
85086352027
-
Bone marrow failure in the Fanconi anemia group C mouse model following DNA damage
-
(in press)
-
Carreau, M. et al. Bone marrow failure in the Fanconi anemia group C mouse model following DNA damage, Blood (in press).
-
Blood
-
-
Carreau, M.1
-
36
-
-
0031580604
-
Clinical protocol: Retroviral mediated gene transfer of the Fanconi anemia complementation group C gene to hematopoietic progenitors of group C patients
-
Liu J., Young N.S. Clinical protocol: retroviral mediated gene transfer of the Fanconi anemia complementation group C gene to hematopoietic progenitors of group C patients. Hum. Gene Ther. 8:1997;1715-1730.
-
(1997)
Hum. Gene Ther.
, vol.8
, pp. 1715-1730
-
-
Liu, J.1
Young, N.S.2
-
37
-
-
12644293813
-
Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance
-
Lo Ten Foe J.R.et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur. J. Hum. Genet. 5:1997;137-148.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 137-148
-
-
Lo Ten Foe, J.R.1
-
38
-
-
0031947840
-
Gene transfer for the eventual treatment of Fanconi's anemia
-
(in press)
-
Liu, J.M. Gene transfer for the eventual treatment of Fanconi's anemia, Semin. Hematol. (in press).
-
Semin. Hematol.
-
-
Liu, J.M.1
|