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Volumn 6, Issue 2, 2000, Pages 143-149

Diamond-Blackfan anemia;Anemie de Blackfan-Diamond: Donnees recentes

Author keywords

Diamond Blackfan anemia; Erythroblastopenia; Haploinsufficiency; Ribosomal protein

Indexed keywords

ADENOSINE DEAMINASE; RIBOSOME PROTEIN;

EID: 0034091544     PISSN: 12647527     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (2)

References (46)
  • 1
    • 0001033529 scopus 로고
    • Anaemia of infancy and early childhood
    • Josephs HW Anaemia of infancy and early childhood Medicine 1936 ; 15 : 307-451.
    • (1936) Medicine , vol.15 , pp. 307-451
    • Josephs, H.W.1
  • 3
    • 0029737830 scopus 로고    scopus 로고
    • Diamond-Blackfan anaemia in the UK : Analysis of 80 cases from a 20-year birth cohort
    • Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC Diamond-Blackfan anaemia in the UK : analysis of 80 cases from a 20-year birth cohort. Br J Haemotol 1996 ; 94 : 645-53.
    • (1996) Br J Haemotol , vol.94 , pp. 645-653
    • Ball, S.E.1    McGuckin, C.P.2    Jenkins, G.3    Gordon-Smith, E.C.4
  • 6
    • 0024850413 scopus 로고
    • Diamond-Blackfan anemia etiology, pathophysiology, and treatment
    • Halperin DS, Freedman MH Diamond-Blackfan anemia etiology, pathophysiology, and treatment Am J Pediatr Hematol/Oncol 1989 ; 11 : 380-94
    • (1989) Am J Pediatr Hematol/Oncol , vol.11 , pp. 380-394
    • Halperin, D.S.1    Freedman, M.H.2
  • 7
    • 0029940791 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia Natural history and sequelae of treatment
    • Janov AJ, Leong T, Nathan DG, Guinan E Diamond-Blackfan anemia Natural history and sequelae of treatment Medicine 1996 ; 75 77-8
    • (1996) Medicine , vol.75 , pp. 77-78
    • Janov, A.J.1    Leong, T.2    Nathan, D.G.3    Guinan, E.4
  • 9
    • 0028839578 scopus 로고
    • High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone
    • Bernini JC, Carillo JM, Buchanan GR. High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. J Pediatr 1995 ; 127 654-9
    • (1995) J Pediatr , vol.127 , pp. 654-659
    • Bernini, J.C.1    Carillo, J.M.2    Buchanan, G.R.3
  • 13
    • 0027302342 scopus 로고
    • Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia
    • letter
    • Spritz RA, Freedman MH. Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia Blood 1993 ; 81 : 3165 (letter)
    • (1993) Blood , vol.81 , pp. 3165
    • Spritz, R.A.1    Freedman, M.H.2
  • 14
    • 0030716191 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia : Expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q
    • Dianzani I, Garelli E, Crescenzio N, Timeus F, Mori PG, Varotto S, Nobili B, Brandalise S, Olivieri NF, Gabutti V, Ramenghi U Diamond-Blackfan anemia : expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q Exp Hematol 1997 ; 25 1270-7
    • (1997) Exp Hematol , vol.25 , pp. 1270-1277
    • Dianzani, I.1    Garelli, E.2    Crescenzio, N.3    Timeus, F.4    Mori, P.G.5    Varotto, S.6    Nobili, B.7    Brandalise, S.8    Olivieri, N.F.9    Gabutti, V.10    Ramenghi, U.11
  • 15
    • 0021149819 scopus 로고
    • Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diarnond syndrome)
    • Iriondo A, Ganjo J, Baro J, Conde E, Pastor JM, Sabanes A, Hermosa V, Sainz MC, Perez de la Lastro L, Zubizarretta A. Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diarnond syndrome). Blood 1984 ; 64 348-51
    • (1984) Blood , vol.64 , pp. 348-351
    • Iriondo, A.1    Ganjo, J.2    Baro, J.3    Conde, E.4    Pastor, J.M.5    Sabanes, A.6    Hermosa, V.7    Sainz, M.C.8    Perez De La Lastro, L.9    Zubizarretta, A.10
  • 18
    • 0028358993 scopus 로고
    • Age-related alterations in erythroid and granulopoietic progenitors in Diamond Blackfan anaemia
    • Casadevall N, Croisille L, Auffray I, Tcherma G, Coulombel L. Age-related alterations in erythroid and granulopoietic progenitors in Diamond Blackfan anaemia Br J Haematol 1994 ; 87 369-75
    • (1994) Br J Haematol , vol.87 , pp. 369-375
    • Casadevall, N.1    Croisille, L.2    Auffray, I.3    Tcherma, G.4    Coulombel, L.5
  • 19
    • 0028951418 scopus 로고
    • Diamond-Blackfan anaemia . three patterns of in vitro response to haemopoietic growth factors
    • McGuckin CP, Ball SE, Gordon-Smith EC. Diamond-Blackfan anaemia . three patterns of in vitro response to haemopoietic growth factors. Br J Haematol 1995 ; 89 457-64
    • (1995) Br J Haematol , vol.89 , pp. 457-464
    • McGuckin, C.P.1    Ball, S.E.2    Gordon-Smith, E.C.3
  • 20
    • 0028118411 scopus 로고
    • Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis
    • Perdahl EB, Naprstek BL, Wallace WC, Lipton JM Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis Blood 1994 ; 83 : 645-50
    • (1994) Blood , vol.83 , pp. 645-650
    • Perdahl, E.B.1    Naprstek, B.L.2    Wallace, W.C.3    Lipton, J.M.4
  • 21
    • 0030923437 scopus 로고    scopus 로고
    • Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient
    • Zhang MY, Clawson GA, Olivieri NF, Bell LL, Begley CG, Miller BA Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient Blood 1997 ; 90 2068-74
    • (1997) Blood , vol.90 , pp. 2068-2074
    • Zhang, M.Y.1    Clawson, G.A.2    Olivieri, N.F.3    Bell, L.L.4    Begley, C.G.5    Miller, B.A.6
  • 22
    • 0031948545 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia : Current concepts and issues
    • Willig TN, Ball SE, Tchernia G, and the Diamond-Blackfan study groups of The European society for paediatric haematology and immunology [ESPHI) and the Société française d'hématologie et d'immunologie pédiatrique (SHIP). Diamond-Blackfan anemia : current concepts and issues Curr Opin Hematol 1998 ; 5 109-15.
    • (1998) Curr Opin Hematol , vol.5 , pp. 109-115
    • Willig, T.N.1    Ball, S.E.2    Tchernia, G.3
  • 29
    • 0021045343 scopus 로고
    • Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia
    • Glader BE, Backer K, Diamond LK Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med 1983 ; 309 1486-90
    • (1983) N Engl J Med , vol.309 , pp. 1486-1490
    • Glader, B.E.1    Backer, K.2    Diamond, L.K.3
  • 30
    • 0023856229 scopus 로고
    • Elevated red cell adenosine deaminase activity a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases
    • Glader BE, Backer K. Elevated red cell adenosine deaminase activity a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases Br J Haematol 1988 ; 68 : 165-8
    • (1988) Br J Haematol , vol.68 , pp. 165-168
    • Glader, B.E.1    Backer, K.2
  • 32
    • 11244343044 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia with mutations in RPS19 gene : A different pattern of in vitro erythroid differentiation ?
    • 41st Annual meeting of the ASH, New-Orleans, Dec 3-7, 1999
    • Croisille L, Chiron M, Vainchenker W, Romeo PH, Rince P, Willig TN, Tchernia G. Diamond-Blackfan anemia with mutations in RPS19 gene : a different pattern of in vitro erythroid differentiation ? 41st Annual meeting of the ASH, New-Orleans, Dec 3-7, 1999 Blood 1999 ; 94 [suppl 1] 414a
    • (1999) Blood , vol.94 , Issue.1 SUPPL.
    • Croisille, L.1    Chiron, M.2    Vainchenker, W.3    Romeo, P.H.4    Rince, P.5    Willig, T.N.6    Tchernia, G.7
  • 33
    • 0028072743 scopus 로고
    • Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidic sites
    • Wilson DM 3rd, Deutsch WA, Kelley MR Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidic sites J Biol Chem 1994 ; 269 25359-64.
    • (1994) J Biol Chem , vol.269 , pp. 25359-25364
    • Wilson III, D.M.1    Deutsch, W.A.2    Kelley, M.R.3
  • 34
    • 0026605203 scopus 로고
    • Differential expression of S19 ribosomal protein, lammin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation
    • Kondoh N, Schweinfest CW, Henderson KW, Papas TS. Differential expression of S19 ribosomal protein, lammin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation Cancer Res 1992 ; 52 791-6
    • (1992) Cancer Res , vol.52 , pp. 791-796
    • Kondoh, N.1    Schweinfest, C.W.2    Henderson, K.W.3    Papas, T.S.4
  • 35
    • 0030023396 scopus 로고    scopus 로고
    • Monocyte chemotactic factor in rheumatoid arthritis synovial tissue probably a cross-linked derivative of S19 ribosomal protein
    • Nishiura H, Shibuya Y, Matsubara S, Tanase S, Kambara T, Yamamoto T Monocyte chemotactic factor in rheumatoid arthritis synovial tissue probably a cross-linked derivative of S19 ribosomal protein. J Biol Chem 1996 ; 271 878-82
    • (1996) J Biol Chem , vol.271 , pp. 878-882
    • Nishiura, H.1    Shibuya, Y.2    Matsubara, S.3    Tanase, S.4    Kambara, T.5    Yamamoto, T.6
  • 36
    • 0031805175 scopus 로고    scopus 로고
    • A monocyte chemotactic factor, S19 ribosomal protein dimer, in phagocytic clearance of apoptotic cells
    • Horino K, Nishiura H, Ohsako T, Shibuya Y, Hiraoka T, Kitamura N, Yamamoto T A monocyte chemotactic factor, S19 ribosomal protein dimer, in phagocytic clearance of apoptotic cells Lab Invest 1998 ; 78 603-17
    • (1998) Lab Invest , vol.78 , pp. 603-617
    • Horino, K.1    Nishiura, H.2    Ohsako, T.3    Shibuya, Y.4    Hiraoka, T.5    Kitamura, N.6    Yamamoto, T.7
  • 37
    • 0032482206 scopus 로고    scopus 로고
    • Altered cellular responses by varying expression of a ribosomal protein gene : Sequential coordination of enhancement and suppression of ribosomal protein S3a gene expression induces apoptosis
    • Noora H, Takai I, Adachi AA, Naora H Altered cellular responses by varying expression of a ribosomal protein gene : sequential coordination of enhancement and suppression of ribosomal protein S3a gene expression induces apoptosis J Cell Biol 1998 ; 141 741-53
    • (1998) J Cell Biol , vol.141 , pp. 741-753
    • Noora, H.1    Takai, I.2    Adachi, A.A.3    Naora, H.4
  • 38
    • 0032428151 scopus 로고    scopus 로고
    • Modeling stochastic gene expression : Implications for haploinsufficiency
    • Cook D, Gerber AN, Tapscott SJ. Modeling stochastic gene expression : implications for haploinsufficiency Proc Natl Acad Sc USA 1998 ; 95 : 15641-6.
    • (1998) Proc Natl Acad Sc USA , vol.95 , pp. 15641-15646
    • Cook, D.1    Gerber, A.N.2    Tapscott, S.J.3
  • 39
    • 0031613939 scopus 로고    scopus 로고
    • The minute genes in drosophila and their molecular functions
    • Lambertsson A The minute genes in drosophila and their molecular functions. Adv Genet 1998 ; 38 69-134.
    • (1998) Adv Genet , vol.38 , pp. 69-134
    • Lambertsson, A.1
  • 40
    • 0031971297 scopus 로고    scopus 로고
    • Ribosomal protein insufficiency and the minute syndrome in drosophila : A dose-response relationship
    • Saeboe-Larssen S, Lyamouri M, Merriam J, Oksvold MP, Lambertsson A Ribosomal protein insufficiency and the minute syndrome in drosophila : a dose-response relationship Genetics 1998 ; 148 1215-24
    • (1998) Genetics , vol.148 , pp. 1215-1224
    • Saeboe-Larssen, S.1    Lyamouri, M.2    Merriam, J.3    Oksvold, M.P.4    Lambertsson, A.5
  • 41
    • 0025633118 scopus 로고
    • Homologous ribosomal protein genes on the human X and Y chromosomes : Escape from X inactivation and possible implications for Turner syndrome
    • Fischer EMC, Beer-Romero P, Brown LG, Ridley A, McNell JA, Lawrence JB, Willard HF, Bleber FR, Page DC. Homologous ribosomal protein genes on the human X and Y chromosomes : escape from X inactivation and possible implications for Turner syndrome. Cell 1990 ; 63 : 1205-18.
    • (1990) Cell , vol.63 , pp. 1205-1218
    • Fischer, E.M.C.1    Beer-Romero, P.2    Brown, L.G.3    Ridley, A.4    McNell, J.A.5    Lawrence, J.B.6    Willard, H.F.7    Bleber, F.R.8    Page, D.C.9
  • 42
    • 0027161001 scopus 로고
    • Functional equivalence of human X-and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
    • Watanabe M, Zinn AR, Page DC, Nishimoto T Functional equivalence of human X-and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet 1993 ; 4 268-71.
    • (1993) Nat Genet , vol.4 , pp. 268-271
    • Watanabe, M.1    Zinn, A.R.2    Page, D.C.3    Nishimoto, T.4
  • 44
    • 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 P, Poutska A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet 1998 ; 19 : 32-8
    • (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.6    Poutska, A.7    Dokal, I.8
  • 45
    • 0033541581 scopus 로고    scopus 로고
    • Dyskeratosis congenita : New clinical and molecular insights into ribosome function
    • McGrath JA Dyskeratosis congenita : new clinical and molecular insights into ribosome function. Lancet 1999 ; 353 1204-5
    • (1999) Lancet , vol.353 , pp. 1204-1205
    • McGrath, J.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.