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Volumn 4, Issue 1, 2003, Pages 3-9

Inherited aplastic anaemia

Author keywords

Aplastic anaemia; Inherited disorder; Somatic abnormalities

Indexed keywords

ANDROGEN; BUSULFAN; CORTICOSTEROID; CYCLOPHOSPHAMIDE; ERYTHROPOIETIN; FLUDARABINE; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; OXYMETHOLONE; PREDNISOLONE; STEROID; TELOMERASE; CELL CYCLE PROTEIN; DKC1 PROTEIN, HUMAN; HEMOPOIETIC GROWTH FACTOR; NUCLEAR PROTEIN;

EID: 0037591410     PISSN: 14664860     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.thj.6200215     Document Type: Review
Times cited : (15)

References (36)
  • 1
    • 0001652428 scopus 로고    scopus 로고
    • The bone marrow failure syndromes
    • Nathan DG, Orkin HS (eds). WB Saunders: Philadelphia
    • Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS (eds). Hematology of Infancy and Childhood. WB Saunders: Philadelphia, 1998, pp 237-335.
    • (1998) Hematology of Infancy and Childhood , pp. 237-335
    • Alter, B.P.1    Young, N.S.2
  • 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
    • 0033000911 scopus 로고    scopus 로고
    • Fanconi anaemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex
    • Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D'Andrea AD. Fanconi anaemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol 1999; 19: 4866-4873.
    • (1999) Mol. Cell Biol. , vol.19 , pp. 4866-4873
    • Garcia-Higuera, I.1    Kuang, Y.2    Naf, D.3    Wasik, J.4    D'Andrea, A.D.5
  • 5
    • 18444384217 scopus 로고    scopus 로고
    • FANCE: The link between Fanconi anaemia complex assembly and activity
    • Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M et al. FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J 2002; 21: 3414-3423.
    • (2002) EMBO J. , vol.21 , pp. 3414-3423
    • Pace, P.1    Johnson, M.2    Tan, W.M.3    Mosedale, G.4    Sng, C.5    Hoatlin, M.6
  • 7
    • 0034655991 scopus 로고    scopus 로고
    • BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
    • Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 2000; 14: 927-939.
    • (2000) Genes Dev. , vol.14 , pp. 927-939
    • Wang, Y.1    Cortez, D.2    Yazdi, P.3    Neff, N.4    Elledge, S.J.5    Qin, J.6
  • 10
    • 0035928799 scopus 로고    scopus 로고
    • New complexities for BRCA1 and BRCA2
    • Kerr P, Ashworth A. New complexities for BRCA1 and BRCA2. Curr Biol 2001; 11: R668-R676.
    • (2001) Curr. Biol. , vol.11
    • Kerr, P.1    Ashworth, A.2
  • 12
    • 12944315003 scopus 로고    scopus 로고
    • Outcome of 69 allogeneic stem transplantations for Fanconi anaemia using HLA-matched unrelated donors: A study on behalf of the European Group for Blood and Marrow Transplantation
    • Guardiola Ph, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman, Marsh JC et al. Outcome of 69 allogeneic stem transplantations for Fanconi anaemia 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, Ph.1    Pasquini, R.2    Dokal, I.3    Ortega, J.J.4    van Weel-Sipman, A.5    Marsh, J.C.6
  • 13
    • 0031436199 scopus 로고    scopus 로고
    • A fludarabinebased protocol for bone marrow transplantation in Fanconi's anaemia
    • Kapelushnik J, Or R, Slavin S, Nagler A. A fludarabinebased protocol for bone marrow transplantation in Fanconi's anaemia. Bone Marrow Transplant 1997; 20: 1109 1110.
    • (1997) Bone Marrow Transplant. , vol.20
    • Kapelushnik, J.1    Or, R.2    Slavin, S.3    Nagler, A.4
  • 14
    • 0034486116 scopus 로고    scopus 로고
    • Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts
    • Boulad F, Gillio A, Small TN, George D, Prasad V, Torok-Castanza J et al. Stem cell transplantation for the treatment of Fanconi anaemia using a fludarabine-based cytoreductive regimen and T-cell-depleted related HLA-mismatched peripheral blood stem cell grafts. Br J Haematol 2000; 111: 1153-1157.
    • (2000) Br. J. Haematol. , vol.111 , pp. 1153-1157
    • Boulad, F.1    Gillio, A.2    Small, T.N.3    George, D.4    Prasad, V.5    Torok-Castanza, J.6
  • 15
    • 0034894544 scopus 로고    scopus 로고
    • Unrelated cord blood transplantation in a Fanconi anaemia patient using fludarabine-based conditioning
    • de Medeiros CR, Silva LM, Pasquini R. Unrelated cord blood transplantation in a Fanconi anaemia patient using fludarabine-based conditioning. Bone Marrow Transplant 2001; 28: 110-112.
    • (2001) Bone Marrow Transplant. , vol.28 , pp. 110-112
    • de Medeiros, C.R.1    Silva, L.M.2    Pasquini, R.3
  • 16
    • 0035127488 scopus 로고    scopus 로고
    • Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation
    • McCloy M, Almeida A, Daly P, Vulliamy T, Roberts IA, Dokal I. Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation. Br J Haematol 2001; 112: 427-427.
    • (2001) Br. J. Haematol. , vol.112 , pp. 427
    • McCloy, M.1    Almeida, A.2    Daly, P.3    Vulliamy, T.4    Roberts, I.A.5    Dokal, I.6
  • 17
    • 0033588822 scopus 로고    scopus 로고
    • Engraftment of hematopoietic progenitor cells transduced with the Fanconi anaemia group C gene (FANCC)
    • Liu JM, Kim S, Read EJ, Futaki M, Dokal I, Carter CS et al. Engraftment of hematopoietic progenitor cells transduced with the Fanconi anaemia group C gene (FANCC). Hum Gene Ther 1999; 10: 2337-2346.
    • (1999) Hum. Gene Ther. , vol.10 , pp. 2337-2346
    • Liu, J.M.1    Kim, S.2    Read, E.J.3    Futaki, M.4    Dokal, I.5    Carter, C.S.6
  • 18
    • 8944237010 scopus 로고    scopus 로고
    • Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group c mutations
    • Dokal I, Chase A, Morgan NV, Coulthard S, Hall G, Mathew CG et al. Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group c mutations. Br J Haematol 1996; 93: 813-816.
    • (1996) Br. J. Haematol. , vol.93 , pp. 813-816
    • Dokal, I.1    Chase, A.2    Morgan, N.V.3    Coulthard, S.4    Hall, G.5    Mathew, C.G.6
  • 19
    • 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, de Winter JP, van Berkel CG, Hoatlin ME 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    de Winter, J.P.4    van Berkel, C.G.5    Hoatlin, M.E.6
  • 20
    • 0033754823 scopus 로고    scopus 로고
    • Dyskeratosis congenita in all its forms
    • Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000; 110: 768-779.
    • (2000) Br. J. Haematol. , vol.110 , pp. 768-779
    • Dokal, I.1
  • 22
    • 0030866294 scopus 로고    scopus 로고
    • Skewed X-inactivation in carriers of X-linked dyskeratosis congenita
    • Vulliamy TJ, Knight SW, Dokal I, Mason PJ. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 1997; 90: 2213-2216.
    • (1997) Blood , vol.90 , pp. 2213-2216
    • Vulliamy, T.J.1    Knight, S.W.2    Dokal, I.3    Mason, P.J.4
  • 24
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32-38.
    • (1998) Nat. Genet. , vol.19 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Wiemann, S.5    Mason, P.J.6
  • 25
    • 0032705706 scopus 로고    scopus 로고
    • Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
    • Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999; 107: 335-339.
    • (1999) Br. J. Haematol. , vol.107 , pp. 335-339
    • Knight, S.W.1    Heiss, N.S.2    Vulliamy, T.J.3    Aalfs, C.M.4    McMahon, C.5    Richmond, P.6
  • 26
    • 0033518188 scopus 로고    scopus 로고
    • A telomerase component is defective in the human disease dyskeratosis congenita
    • Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999; 402: 551-555.
    • (1999) Nature , vol.402 , pp. 551-555
    • Mitchell, J.R.1    Wood, E.2    Collins, K.3
  • 27
    • 0037148271 scopus 로고    scopus 로고
    • Telomerase in the human organism
    • Collins K, Mitchell JR. Telomerase in the human organism. Oncogene 2002; 21: 564-579.
    • (2002) Oncogene , vol.21 , pp. 564-579
    • Collins, K.1    Mitchell, J.R.2
  • 28
    • 0035960043 scopus 로고    scopus 로고
    • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    • Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mson PJ et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432-435.
    • (2001) Nature , vol.413 , pp. 432-435
    • Vulliamy, T.1    Marrone, A.2    Goldman, F.3    Dearlove, A.4    Bessler, M.5    Mson, P.J.6
  • 29
    • 0035959968 scopus 로고    scopus 로고
    • Testing telomerase
    • Marciniak R, Guarente L. Testing telomerase. Nature 2001; 413: 370-373.
    • (2001) Nature , vol.413 , pp. 370-373
    • Marciniak, R.1    Guarente, L.2
  • 30
    • 0037157582 scopus 로고    scopus 로고
    • Association between aplastic anaemia and mutations in telomerase RNA
    • Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170.
    • (2002) Lancet , vol.359 , pp. 2168-2170
    • Vulliamy, T.1    Marrone, A.2    Dokal, I.3    Mason, P.J.4
  • 31
    • 0036435057 scopus 로고    scopus 로고
    • A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome
    • Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I. A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002; 119: 765-768.
    • (2002) Br. J. Haematol. , vol.119 , pp. 765-768
    • Cossu, F.1    Vulliamy, T.J.2    Marrone, A.3    Badiali, M.4    Cao, A.5    Dokal, I.6
  • 33
    • 13044266374 scopus 로고    scopus 로고
    • Mutations in ribosomal protein S19 and Diamond Blackfan anaemia: Wide variations in phenotypic expression
    • Willig T-N, Dratchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U et al. Mutations in ribosomal protein S19 and Diamond Blackfan anaemia: wide variations in phenotypic expression. Blood 1999; 94: 4294 4306.
    • (1999) Blood , vol.94 , pp. 4294-4306
    • Willig, T.-N.1    Dratchinskaia, N.2    Dianzani, I.3    Ball, S.4    Niemeyer, C.5    Ramenghi, U.6
  • 34
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale DC, Person RE, Bolyard A, Aprikyan AG, Bos C, Bonilla MA et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-2322.
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.3    Aprikyan, A.G.4    Bos, C.5    Bonilla, M.A.6
  • 35
    • 0033019932 scopus 로고    scopus 로고
    • Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
    • Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Ggood RA et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 1999; 96: 3132-3136.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 3132-3136
    • Ihara, K.1    Ishii, E.2    Eguchi, M.3    Takada, H.4    Suminoe, A.5    Ggood, R.A.6
  • 36


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.