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Volumn 105, Issue 3, 2005, Pages 1329-1336

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway

Author keywords

[No Author keywords available]

Indexed keywords

FANCONI ANEMIA GROUP D2 PROTEIN; HYBRID PROTEIN; UNCLASSIFIED DRUG;

EID: 19944431331     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-05-1852     Document Type: Article
Times cited : (115)

References (43)
  • 1
    • 1942509437 scopus 로고    scopus 로고
    • Inherited bone marrow failure syndromes
    • Nathan DG, Ginsburg D, Orkin SH, Look AT, eds. Philadelphia, PA: Saunders
    • Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Ginsburg D, Orkin SH, Look AT, eds. Hematology of Infancy and Childhood. Vol 1. 6th ed. Philadelphia, PA: Saunders; 2003:280-363.
    • (2003) Hematology of Infancy and Childhood. Vol 1. 6th Ed. , vol.1 , pp. 280-363
    • Alter, B.P.1
  • 3
    • 0035379611 scopus 로고    scopus 로고
    • The emerging genetic and molecular basis of Fanconi anaemia
    • Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001;2:446-457.
    • (2001) Nat Rev Genet , vol.2 , pp. 446-457
    • Joenje, H.1    Patel, K.J.2
  • 4
    • 12144288675 scopus 로고    scopus 로고
    • Heterogeneity in Fanconi anemia: Evidence for two new genetic subtypes
    • Levitus M, Rooimans MA, Steltenpool J, et al. Heterogeneity in Fanconi anemia: evidence for two new genetic subtypes. Blood. 2003;103:2498-2503.
    • (2003) Blood , vol.103 , pp. 2498-2503
    • Levitus, M.1    Rooimans, M.A.2    Steltenpool, J.3
  • 5
    • 0026521238 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 1992;356:763-767.
    • (1992) Nature , vol.356 , pp. 763-767
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 6
    • 17744394476 scopus 로고    scopus 로고
    • Positional cloning of a novel Fanconi anemia gene, FANCD2
    • Timmers C, Taniguchi T, Hejna J, et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell. 2001;7:241-248.
    • (2001) Mol Cell , vol.7 , pp. 241-248
    • Timmers, C.1    Taniguchi, T.2    Hejna, J.3
  • 7
    • 18444362122 scopus 로고    scopus 로고
    • Biallelic inactivation of BRCA2 in Fanconi anemia
    • Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297:606-609.
    • (2002) Science , vol.297 , pp. 606-609
    • Howlett, N.G.1    Taniguchi, T.2    Olson, S.3
  • 8
    • 0141484612 scopus 로고    scopus 로고
    • A novel ubiquitin ligase is deficient in Fanconi anemia
    • Meetei AR, de Winter JP, Medhurst AL, et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet. 2003;35:165-170.
    • (2003) Nat Genet , vol.35 , pp. 165-170
    • Meetei, A.R.1    De Winter, J.P.2    Medhurst, A.L.3
  • 9
    • 0037268338 scopus 로고    scopus 로고
    • The Fanconi anaemia/BRCA pathway
    • D'Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer. 2003;3:23-34.
    • (2003) Nat Rev Cancer , vol.3 , pp. 23-34
    • D'Andrea, A.D.1    Grompe, M.2
  • 10
    • 0035105291 scopus 로고    scopus 로고
    • Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway
    • Garcia-Higuera I, Taniguchi T, Ganesan S, et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell. 2001;7:249-262.
    • (2001) Mol Cell , vol.7 , pp. 249-262
    • Garcia-Higuera, I.1    Taniguchi, T.2    Ganesan, S.3
  • 11
    • 4544280871 scopus 로고    scopus 로고
    • Interaction of FANCD2 and NBS1 in the DNA damage response
    • Nakanishi K, Taniguchi T, Ranganathan V, et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat Cell Biol. 2002;4:913-920.
    • (2002) Nat Cell Biol , vol.4 , pp. 913-920
    • Nakanishi, K.1    Taniguchi, T.2    Ranganathan, V.3
  • 12
    • 3042858785 scopus 로고    scopus 로고
    • Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways
    • Hussain S, Wilson JB, Medhurst AL, et al. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways. Hum Mol Genet. 2004;13:1241-1248.
    • (2004) Hum Mol Genet , vol.13 , pp. 1241-1248
    • Hussain, S.1    Wilson, J.B.2    Medhurst, A.L.3
  • 13
    • 2942705849 scopus 로고    scopus 로고
    • Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin
    • Wang X, Andreassen PR, D'Andrea AD. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. Mol Cell Biol. 2004;24:5850-5862.
    • (2004) Mol Cell Biol , vol.24 , pp. 5850-5862
    • Wang, X.1    Andreassen, P.R.2    D'Andrea, A.D.3
  • 14
    • 0037123768 scopus 로고    scopus 로고
    • Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways
    • Taniguchi T, Garcia-Higuera I, Xu B, et al. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell. 2002;109:459-472.
    • (2002) Cell , vol.109 , pp. 459-472
    • Taniguchi, T.1    Garcia-Higuera, I.2    Xu, B.3
  • 15
    • 1842576658 scopus 로고    scopus 로고
    • The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways
    • Pichierri P, Rosselli F. The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. EMBO J. 2004;23:1178-1187.
    • (2004) EMBO J , vol.23 , pp. 1178-1187
    • Pichierri, P.1    Rosselli, F.2
  • 16
    • 4043133287 scopus 로고    scopus 로고
    • ATR couples FANCD2 monoubiquitination to the DNA-damage response
    • Andreassen PR, D'Andrea AD, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev. 2004; 18:1958-1963.
    • (2004) Genes Dev , vol.18 , pp. 1958-1963
    • Andreassen, P.R.1    D'Andrea, A.D.2    Taniguchi, T.3
  • 17
    • 0037441757 scopus 로고    scopus 로고
    • A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
    • Kutler DI, Singh B, Satagopan J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101:1249-1256.
    • (2003) Blood , vol.101 , pp. 1249-1256
    • Kutler, D.I.1    Singh, B.2    Satagopan, J.3
  • 18
    • 3142631738 scopus 로고    scopus 로고
    • Individualized risks of first adverse events in patients with Fanconi anemia
    • Rosenberg PS, Huang Y, Alter BP. Individualized risks of first adverse events in patients with Fanconi anemia. Blood. 2004;104:350-355.
    • (2004) Blood , vol.104 , pp. 350-355
    • Rosenberg, P.S.1    Huang, Y.2    Alter, B.P.3
  • 19
    • 0030960336 scopus 로고    scopus 로고
    • Phenotypic consequences of mutations in the Fanconi anemia FAC gene: An International Fanconi Anemia Registry study
    • Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. Blood. 1997;90:105-110.
    • (1997) Blood , vol.90 , pp. 105-110
    • Gillio, A.P.1    Verlander, P.C.2    Batish, S.D.3    Giampietro, P.F.4    Auerbach, A.D.5
  • 20
    • 0034672154 scopus 로고    scopus 로고
    • Association of complementation group and mutation type with clinical outcome in Fanconi anemia
    • European Fanconi Anemia Research Group
    • Faivre L, Guardiola P, Lewis C, et al. Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. Blood. 2000;96:4064-4070.
    • (2000) Blood , vol.96 , pp. 4064-4070
    • Faivre, L.1    Guardiola, P.2    Lewis, C.3
  • 21
    • 1642315917 scopus 로고    scopus 로고
    • Biallelic BRCA2/FANCD1 mutations: Association with spontaneous chromosomal instability and solid tumors of childhood
    • Hirsch B, Shimamura A, Moreau L, et al. Biallelic BRCA2/FANCD1 mutations: association with spontaneous chromosomal instability and solid tumors of childhood. Blood. 2004;103:2554-2559.
    • (2004) Blood , vol.103 , pp. 2554-2559
    • Hirsch, B.1    Shimamura, A.2    Moreau, L.3
  • 22
    • 11144353924 scopus 로고    scopus 로고
    • Germline mutations in BRCA2: Shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia
    • Wagner JE, Tolar J, Levran O, et al. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood. 2004;103:3226-3229.
    • (2004) Blood , vol.103 , pp. 3226-3229
    • Wagner, J.E.1    Tolar, J.2    Levran, O.3
  • 23
    • 12644293813 scopus 로고    scopus 로고
    • Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance
    • Lo Ten Foe JR, Kwee ML, Rooimans MA, et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet. 1997;5:137-148.
    • (1997) Eur J Hum Genet , vol.5 , pp. 137-148
    • Lo Ten Foe, J.R.1    Kwee, M.L.2    Rooimans, M.A.3
  • 24
    • 0032796554 scopus 로고    scopus 로고
    • Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
    • Waisfisz Q, Morgan NV, Savino M, et al. Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet. 1999;22:379-383.
    • (1999) Nat Genet , vol.22 , pp. 379-383
    • Waisfisz, Q.1    Morgan, N.V.2    Savino, M.3
  • 25
    • 0035956959 scopus 로고    scopus 로고
    • Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells
    • Gregory JJ, Jr., Wagner JE, Verlander PC, et al. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci USA. 2001;98:2532-2537.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 2532-2537
    • Gregory Jr., J.J.1    Wagner, J.E.2    Verlander, P.C.3
  • 26
    • 0038361336 scopus 로고    scopus 로고
    • Reverse mosaicism in Fanconi anemia: Natural gene therapy via molecular self-correction
    • Gross M, Hanenberg H, Lobitz S, et al. Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenet Genome Res. 2002;98:126-135.
    • (2002) Cytogenet Genome Res , vol.98 , pp. 126-135
    • Gross, M.1    Hanenberg, H.2    Lobitz, S.3
  • 28
    • 0038567069 scopus 로고
    • Chromosomal breakage in response to cross-linking agents in the diagnostic of Fanconi anemia
    • Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Heidelberg: Springer-Verlag
    • Arwert F, Kwee ML. Chromosomal breakage in response to cross-linking agents in the diagnostic of Fanconi anemia. In: Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Fanconi Anemia: Clinical, Cytogenic, and Experimental Aspects. Heidelberg: Springer-Verlag; 1989:83-92.
    • (1989) Fanconi Anemia: Clinical, Cytogenic, and Experimental Aspects , pp. 83-92
    • Arwert, F.1    Kwee, M.L.2
  • 29
    • 0041384371 scopus 로고
    • International Fanconi Anemia Registry: First report
    • Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Heidelberg: Springer-Verlag
    • Auerbach AD. International Fanconi Anemia Registry: first report. In: Schroeder-Kurth TM, Auerbach AD, Obe G, eds. Fanconi Anemia: Clinical, Cytogenic, and Experimental Aspects. Heidelberg: Springer-Verlag; 1989:3-12.
    • (1989) Fanconi Anemia: Clinical, Cytogenic, and Experimental Aspects , pp. 3-12
    • Auerbach, A.D.1
  • 31
    • 0024543636 scopus 로고
    • International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity
    • Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73:391-396.
    • (1989) Blood , vol.73 , pp. 391-396
    • Auerbach, A.D.1    Rogatko, A.2    Schroeder-Kurth, T.M.3
  • 32
  • 33
    • 0028950319 scopus 로고
    • Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia
    • Seyschab H, Friedl R, Sun Y, et al. Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood. 1995;85:2233-2237.
    • (1995) Blood , vol.85 , pp. 2233-2237
    • Seyschab, H.1    Friedl, R.2    Sun, Y.3
  • 34
    • 0037114696 scopus 로고    scopus 로고
    • A novel diagnostic screen for defects in the Fanconi anemia pathway
    • Shimamura A, de Oca RM, Svenson JL, et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood. 2002;100:4649-4654.
    • (2002) Blood , vol.100 , pp. 4649-4654
    • Shimamura, A.1    De Oca, R.M.2    Svenson, J.L.3
  • 35
    • 12944315003 scopus 로고    scopus 로고
    • Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: A study on behalf of the European Group for Blood and Marrow Transplantation
    • Guardiola P, Pasquini R, Dokal I, et al. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood. 2000;95:422-429.
    • (2000) Blood , vol.95 , pp. 422-429
    • Guardiola, P.1    Pasquini, R.2    Dokal, I.3
  • 36
    • 0017118656 scopus 로고
    • Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens
    • Auerbach AD, Wolman SR. Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature. 1976;261:494-496.
    • (1976) Nature , vol.261 , pp. 494-496
    • Auerbach, A.D.1    Wolman, S.R.2
  • 37
    • 7344253051 scopus 로고    scopus 로고
    • Subtyping analysis of Fanconi anemia by immunoblotting and reiroviral gene transfer
    • Pulsipher M, Kupfer GM, Naf D, et al. Subtyping analysis of Fanconi anemia by immunoblotting and reiroviral gene transfer. Mol Med. 1998;4:468-479.
    • (1998) Mol Med , vol.4 , pp. 468-479
    • Pulsipher, M.1    Kupfer, G.M.2    Naf, D.3
  • 38
    • 0037108308 scopus 로고    scopus 로고
    • Hematopoietic progenitor cell harvest and functionality in Fanconi anemia patiente
    • Larghero J, Marolleau JP, Soulier J, et al. Hematopoietic progenitor cell harvest and functionality in Fanconi anemia patiente [letter]. Blood. 2002;100:3051.
    • (2002) Blood , vol.100 , pp. 3051
    • Larghero, J.1    Marolleau, J.P.2    Soulier, J.3
  • 39
    • 0033052012 scopus 로고    scopus 로고
    • Accelerated telomere shortening and telomerase activation in Fanconi's anaemia
    • Leteurtre F, Li X, Guardiola P, Le Roux G, et al. Accelerated telomere shortening and telomerase activation in Fanconi's anaemia. Br J Haematol. 1999;105:883-893.
    • (1999) Br J Haematol , vol.105 , pp. 883-893
    • Leteurtre, F.1    Li, X.2    Guardiola, P.3    Le Roux, G.4
  • 40
    • 0037842201 scopus 로고    scopus 로고
    • Genetic reversion in an acute myelogetious leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2
    • Ikeda H, Matsushita M, Waisfisz Q, et al. Genetic reversion in an acute myelogetious leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2. Cancer Res. 2003;63:2688-2694.
    • (2003) Cancer Res , vol.63 , pp. 2688-2694
    • Ikeda, H.1    Matsushita, M.2    Waisfisz, Q.3
  • 41
    • 0037968656 scopus 로고    scopus 로고
    • Acquired FANCA dysfunction and cytogenetic instability in adult acute myelocenous leukemia
    • Lensch MW, Tischkowitz M, Christianson TA, et al. Acquired FANCA dysfunction and cytogenetic instability in adult acute myelocenous leukemia. Blood. 2003;102:7-16.
    • (2003) Blood , vol.102 , pp. 7-16
    • Lensch, M.W.1    Tischkowitz, M.2    Christianson, T.A.3
  • 42
    • 0042519602 scopus 로고    scopus 로고
    • Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice
    • Houghtaling S, Timmers C, Noll M, et al. Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev. 2003;17:2021-2035.
    • (2003) Genes Dev , vol.17 , pp. 2021-2035
    • Houghtaling, S.1    Timmers, C.2    Noll, M.3
  • 43
    • 0347413714 scopus 로고    scopus 로고
    • Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apcotosis
    • Liu TX, Howlett NG, Deng M, et al. Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apcotosis. Dev Cell. 2003;5:903-914.
    • (2003) Dev Cell , vol.5 , pp. 903-914
    • Liu, T.X.1    Howlett, N.G.2    Deng, M.3


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