메뉴 건너뛰기




Volumn 24, Issue 2, 1998, Pages 251-261

Hereditary spherocytosis with spectrin deficiency related to null mutations of the β-spectrin gene

Author keywords

Dominant; Erythrocytes; Frameshift; Membrane; Nonsense

Indexed keywords

SPECTRIN;

EID: 0032104593     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1998.0190     Document Type: Article
Times cited : (12)

References (18)
  • 1
    • 0003147477 scopus 로고
    • Disorders of the red cell membrane
    • Handin RI, Lux SE, and Stossel TP, eds. Philadelphia: JB Lippincott Co.
    • 1. Lux SE, Palek J. Disorders of the red cell membrane. In: Handin RI, Lux SE, and Stossel TP, eds. Blood: Principles and Practice of Hematology. Philadelphia: JB Lippincott Co., pp. 1701-1818, 1995.
    • (1995) Blood: Principles and Practice of Hematology , pp. 1701-1818
    • Lux, S.E.1    Palek, J.2
  • 2
    • 0021914750 scopus 로고
    • Partial deficiency of erythrocyte spectrin in hereditary spherocytosis
    • 2. Agre P, Casella JF, Zinkham WH, McMillan C, Bennett V. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 314:380-383, 1985.
    • (1985) Nature , vol.314 , pp. 380-383
    • Agre, P.1    Casella, J.F.2    Zinkham, W.H.3    McMillan, C.4    Bennett, V.5
  • 3
    • 0027528573 scopus 로고
    • Spectrin genes in health and disease
    • 3. Gallagher PG, Forget BG. Spectrin genes in health and disease. Semin Hematol 30:4-21, 1993.
    • (1993) Semin Hematol , vol.30 , pp. 4-21
    • Gallagher, P.G.1    Forget, B.G.2
  • 4
    • 0025369182 scopus 로고
    • Alteration of the erythrocyte skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis and pyropoikilocytosis
    • 4. Liu SC, Derick LH, Agre P, Palek J. Alteration of the erythrocyte skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis and pyropoikilocytosis. Blood 76:198-205, 1990.
    • (1990) Blood , vol.76 , pp. 198-205
    • Liu, S.C.1    Derick, L.H.2    Agre, P.3    Palek, J.4
  • 5
    • 0029825262 scopus 로고    scopus 로고
    • Hereditary spherocytosis: A review of the clinical and molecular aspects of the disease
    • 5. Hassoun H, Palek J. Hereditary spherocytosis: A review of the clinical and molecular aspects of the disease. Blood Rev 10:129-147, 1996.
    • (1996) Blood Rev , vol.10 , pp. 129-147
    • Hassoun, H.1    Palek, J.2
  • 6
    • 0029826102 scopus 로고    scopus 로고
    • Search for the candidate genes in dominant hereditary spherocytosis using linkage analysis
    • 6. Garbarz M, Bibas D, Cynober T et al. Search for the candidate genes in dominant hereditary spherocytosis using linkage analysis. CR Acad Sci Paris 319:913-919, 1996.
    • (1996) CR Acad Sci Paris , vol.319 , pp. 913-919
    • Garbarz, M.1    Bibas, D.2    Cynober, T.3
  • 7
    • 0030231133 scopus 로고    scopus 로고
    • Red cell abnormalities in hereditary spherocytosis. Relevance of diagnosis and for understanding the variable expression of clinical severity
    • 7. Cynober T, Mohandas N, Tchemia G. Red cell abnormalities in hereditary spherocytosis. Relevance of diagnosis and for understanding the variable expression of clinical severity. J Lab Clin Med 128:259-269, 1996.
    • (1996) J Lab Clin Med , vol.128 , pp. 259-269
    • Cynober, T.1    Mohandas, N.2    Tchemia, G.3
  • 8
    • 0031961757 scopus 로고    scopus 로고
    • A 5′ splice-region G→C mutation in exon 3 of the human β-spectrin gene leads to decreased levels of β spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)
    • 8. Garbarz M, Galand C, Bibas D, et al. A 5′ splice-region G→C mutation in exon 3 of the human β-spectrin gene leads to decreased levels of β spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao). Br J Haematol 100:90-98, 1998.
    • (1998) Br J Haematol , vol.100 , pp. 90-98
    • Garbarz, M.1    Galand, C.2    Bibas, D.3
  • 10
    • 0030921079 scopus 로고    scopus 로고
    • Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency
    • 10. Hassoun H, Vassiliadis JN, Murray J et al. Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Bood 90:398-406, 1997.
    • (1997) Bood , vol.90 , pp. 398-406
    • Hassoun, H.1    Vassiliadis, J.N.2    Murray, J.3
  • 11
    • 0023722216 scopus 로고
    • Occurrence of hereditary spherocytosis and β thalassaemia in the same family: Globin chain synthesis and visco diffractometric studies
    • 11. Pautard B, Feo C, Dhermy D, Wajcman H, Baudin-Chich V, Delobel J. Occurrence of hereditary spherocytosis and β thalassaemia in the same family: globin chain synthesis and visco diffractometric studies. Br J Haematol 70:239-245, 1988.
    • (1988) Br J Haematol , vol.70 , pp. 239-245
    • Pautard, B.1    Feo, C.2    Dhermy, D.3    Wajcman, H.4    Baudin-Chich, V.5    Delobel, J.6
  • 12
    • 0025332977 scopus 로고
    • Full-length sequence of the cDNA for human erythroid β-spectrin
    • 12. Winkelmann JC, Chang J, Tse WT, et al. Full-length sequence of the cDNA for human erythroid β-spectrin. J Biol Chem 265:11827-11832, 1990.
    • (1990) J Biol Chem , vol.265 , pp. 11827-11832
    • Winkelmann, J.C.1    Chang, J.2    Tse, W.T.3
  • 13
    • 0026628758 scopus 로고
    • Mutations of the red blood cell membrane proteins: From clinical evaluation to detection of the underlying genetic defect
    • 13. Palek J, Sahr KE. Mutations of the red blood cell membrane proteins: from clinical evaluation to detection of the underlying genetic defect. Blood 80:308-330, 1992.
    • (1992) Blood , vol.80 , pp. 308-330
    • Palek, J.1    Sahr, K.E.2
  • 14
    • 0027749280 scopus 로고
    • Crystal structure of the repetitive segments of spectrin
    • 14. Yan Y, Winograd E, Viel A, Harrison SC, Branton D. Crystal structure of the repetitive segments of spectrin. Science 262:2027-2030, 1993.
    • (1993) Science , vol.262 , pp. 2027-2030
    • Yan, Y.1    Winograd, E.2    Viel, A.3    Harrison, S.C.4    Branton, D.5
  • 15
    • 85030335750 scopus 로고    scopus 로고
    • Heterogeneity of the molecular mechanisms underlying non-dominant hereditary spherocytosis
    • 15. Miraglia del Giudice E, Lombardi C, Nobili M, et al. Heterogeneity of the molecular mechanisms underlying non-dominant hereditary spherocytosis. Blood 90(suppl. 1):271a, 1997.
    • (1997) Blood , vol.90 , Issue.SUPPL. 1
    • Miraglia Del Giudice, E.1    Lombardi, C.2    Nobili, M.3
  • 16
    • 0027328064 scopus 로고
    • Spectrin kissimmee: A spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1
    • 16. Backer P, Tse WT, Lux SE, Forget BG. Spectrin Kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Invest 92:612-616, 1993.
    • (1993) J Clin Invest , vol.92 , pp. 612-616
    • Backer, P.1    Tse, W.T.2    Lux, S.E.3    Forget, B.G.4
  • 17
    • 0028840321 scopus 로고
    • Molecular basis of spectrin deficiency in β spectrin Durham
    • 17. Hassoun, H, Vassiliadis JN, Murray J, et al. Molecular basis of spectrin deficiency in β spectrin Durham. J Clin Invest 96:2623-2629, 1995.
    • (1995) J Clin Invest , vol.96 , pp. 2623-2629
    • Hassoun, H.1    Vassiliadis, J.N.2    Murray, J.3
  • 18
    • 0029870245 scopus 로고    scopus 로고
    • Hereditary spherocytosis with spectrin deficiency due to an unstable truncated β spectrin
    • 18. Hassoun H, Vassiliadis JN, Murray J, et al. Hereditary spherocytosis with spectrin deficiency due to an unstable truncated β spectrin. Blood 87:2538-2545, 1996.
    • (1996) Blood , vol.87 , pp. 2538-2545
    • Hassoun, H.1    Vassiliadis, J.N.2    Murray, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.