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Molecular Genetics of Hereditary Red Cell Membrane Disorders

Research Project

Project/Area Number 06044212
Research Category

Grant-in-Aid for international Scientific Research

Allocation TypeSingle-year Grants
SectionJoint Research
Research InstitutionKawasaki Medical School

Principal Investigator

YAWAYA Yoshihito  Kawasaki Medical School, Medicine, Professor, 医学部, 教授 (70069011)

Co-Investigator(Kenkyū-buntansha) MORLE Laurette  Institute Pasteur de Lyon CNRS (URA 1171), Senior Scientist, Senior Sci
ALLOISIO Nicole  Institute Pasteur de Lyon CNRS (URA 1171), Senior Scientist, Senior Sci
DERAUNAY Jean  Institute Pasteur de Lyon CNRS (URA 1171), Professor, 教授
HARANO Keiko  Kawasaki University of Medical Welfare, Faculty of Medical Profession, Associate, 医療技術学部, 助教授 (00069072)
HARANO Teruo  Kawasaki Medical School, Medicine, Associate Professor, 医学部, 助教授 (60069028)
OKAMOTO Naoto  Kawasaki Medical School, Medicine, Research Associate, 医学部, 助手 (20204042)
INOUE Takafumi  Kawasaki Medical School, Medicine, Research Associate, 医学部, 助手 (60203238)
WADA Hideho  Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (70191830)
KANZAKI Akio  Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (40148698)
SUGIHARA Takashi  Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (60140505)
YAMADA Osamu  Kawasaki Medical School, Medicine, Associate Professor, 医学部, 助教授 (50104790)
DELAUNAY Jea  Institut Pasteur de Lyon, CNRS(URA 1171), 教授
ALLOISIO Nic  Institut Pasteur de Lyon, CNRS(URA 1171), Senior Sci
MORLE Lauret  Institut Pasteur de Lyon, CNRS(URA 1171), Senior Sci
高橋 美加  川崎医科大学, 医学部, 助手 (10258212)
Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥12,200,000 (Direct Cost: ¥12,200,000)
Fiscal Year 1995: ¥6,000,000 (Direct Cost: ¥6,000,000)
Fiscal Year 1994: ¥6,200,000 (Direct Cost: ¥6,200,000)
KeywordsRed cell membrane / Membrane proteins / Hereditary spherocytosis / Band 3 / Band 4.2 / Cytoskeleton / Electron micrography / Gene analysis / Morphogenesis / 細胞骨格蛋白 / 構造蛋白 / 免疫電顕
Research Abstract

The following results were obtained under collaboration with the French scientists.
1.Epidemiology of red cell membrane disorders of hereditary origin in the Japanese population : The most characteristic feature was the pressence of a large number of patients with band 4.2 anomalies (5.6%), in addition to the most frequent hereditary spherocytosis (HS) (50.5%).
2.Characteristic feature of the pathogenesis of HS in Japan :
As the causative factor of HS,the deficiency of ankyrin and/or spectrin was extremely rare in Japan contrary to the Western countries.Band 3 and/or band 4.2 anomalies appeared to be the major factors in Japan.Several new mutations were identified : i.e., Band 3 Fukuoka, Band 3 Okinawa, Band 3 Hiroshima, and complete deficiency of band 3 in cattle.
3.Band 4.2 anomalies :
Band 4.2 anomalies are the disorders almost exclusively specific for the Japanese population.We identified 34 cases from 20 independent families, most of which were of the Nippon Type (142 GCT*ACT).Several … More new mutations have been identified : i.e., Band 4.2 Komatsu, Band 4.2 Shiga, Band 4.2 doublet Nagano, and Band 4.2 doublet Kobe.
By utilizing red cells with complete band 4.2 deficiencies, it was clarified that band 4.2 does bind directly to spectrins, and that intramembrane particles and cytoskeletal network were strikingly affected and disrupted in the absence of band 4.2.
4.Morphogenesis of red cell membrane proteins :
During the erythroid maturation, spectrins and band 3 were expressed initially in erythroid precursors, and ankyrin and band 4.1 followed.Band 4.2 was expressed at the latest stage of erythroid maturation with its five isoforms.
5.Spectrin abnormalities :
As beta-spectrin (Sp) anomalies, beta-Sp Le Puy in Yamagata and beta-Sp Nagoya have newly been identified in addition to the previously reported beta-Sp Tokyo.The incidence of the allele^<LELY> polymorphism of alpha-spectrin gene was almost identical among Japanese and other races (French white, blacks, and Chinese).The marked instability of the cytoskeletal network in the complete deficiency of band 4.1 was verified by immuno-electron micrography.alpha-Sp anomalies were extremely rare in Japan. Less

Report

(2 results)
  • 1995 Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (87 results)

All Other

All Publications (87 results)

  • [Publications] Yawata, Y.: "Invited review : Red cell membrane protein band 4.2 : Phenotypic, genetic, and electron microscopic aspects." Biochimica Biophysica Acta : Protein Structure and Molecular Enzymology Reviews. 1204. 131-148 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Invited review : Band 4.2 abnormalities in human red cells." American Journal of Medical Sciences. 307. 190-203 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Red cell membrane disorders in the Japanese population : Clinical, biochemical, electron microscopic, and genetic studies." International Journal of Hematology. 60. 23-38 (994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, A.: "A surface replica method : A useful tool for studies of the cytoskeletal network in red cell membranes of normal subjects and patients with a β-spectrin mutant (spectrin Le Puy : β^<220/214>)." Vichows Archiv. 425. 297-304 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inoue, T.: "Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese pupulation." Internatonal Journal of Hematology. 60. 227-238 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inoue, T.: "Electron microscopic and physico-biochemical studies on disorganization of cytoskeletal network and inegral protein (band 3) in red cells of band 4.2 deficiency with a mutation (codon 142 GCT→ACT)." Internatonal Journal of Hematology. 59. 157-175 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Marechal, J.: "Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family : Ultrastructural aspect of the red cell skeleton." European Journal of Haematology. 52. 92-98 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sugihara, T.: "Deformation of swollen erythrocytes provides a model of sickling-induced leak pathways, including a novel bromide sensitive component." Blood. 83(9). 2684-2691 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Expression of band 4.2 and its isoforms in human erythrooid precursors." Blood. 84. 5a (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Two novel mutations in red cell band 4.2 deficiency : Homozygous 175 GAT→TAT, and compound heterozygous 142 GCT→ACT with 317 CGC→TGC." Blood. 84. 7a (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Abnormalities of red cell band 4.2 on its anchoring functions." Pathophysiology. 1 (Suppl.). 235 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Band 4.2 Shiga : 317 CGC→TGC in compound heterozygotes with 142 GCT→ACT results in band 4.2 deficiency and microspherocytosis." British Journal of Haematology. 91. 333-340 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Band 4.2 Komatsu : 523 GAT→TAT (175 Asp→Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2 hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network." International Journal of Hematology. 61. 165-178 (995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Marechal, J.: "Ethnic distribution of allele a^<LELY>, a low expression allele of red cell spectrin α-gene." British Journal of Haematology. 90. 553-556 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Okamoto, N.: "Hereditary spherocytic anemia with deletion of the short arm of chromosome 8." American Journal of Medical Genetics. 58. 225-229 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Complete band 3 deficiency in cattle : A model for hereditary spherocytosis with striking instability of cytoskeletal network with marked exo-and endocytosis." Blood. 86. 46 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The definitive role of band 4.2 in completing whole assembly of red cell membane structure by the latest expression with five isoforms among membrane proteins at the terminal erythroid maturation." Blood. 86. 46 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Electron microscopic evidence of impaired intramembane particles and of instability of cytoskeletal network in band 4.2 deficiency in human red cells." Cell Motility and the Cytoskeleton. 33. 95-105 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maillet, P.: "A stop codon in exon 30 of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya." Human Mutation. (in press). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Golan, D. E.: "Control of band 3 lateral and rotational mobility by band 4.2 in intact erythrocytes : Release of band 3 oligomers from low-affinity binding sites." Biophysical Journal. (in press). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inaba, M.: "Defective anion transport and marked spherocytosis with membane instability caused by hereditary total deficiency of red cell band due to a nonsense mutation." Journal of Clinical Investigation. (in press). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Novel evidence of binding of red cell membrane protein band 4.2 to spectrins critical for the final membrane assembly and membrane stability." Proceedings of the International Symposium on Membrane Proteins : Structure, Function and Expression Control (Feb. 7-9, 1996, Fukuoka). 87 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The completion of whole assembly of red cell membrane structure by the latest expression of band 4.2 with five isoforms among membrane proteins at the terminal erythroid maturation." Proceedings of the International Symposium on Membrane Proteins : Structure, Function and Expression Control (Feb. 7-9, 1996, Fukuoka). 88 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Partial deficiency of band 4.2 due to its impared binding to a mutated band 3 in a homozygote of band 3 Fukuoka (130GGA→AGA : Gly→Arg)." Proceedings of the Second Meeting of the European Haematology Association (May 29-June 1, 1996, Paris). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Band 4.2 doublet Nagano : A trait with 72 kD and 74kD peptides of red cell band 4.2 in equal amount, and with increased red cell membrane cholesterol and phosphatidylcholine." Proceedings of the Second Meeting of the European Haematology Association (May29-June 1, 1996, Paris). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Association of hereditary spherocytosis with partial deficiency of band 3 and absense of protein 4.2 : Compound heterozygosity for band 3 Okinawa and band 3 Fukuoka." Blood. (submitted). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The expression of band 4.2 in normal human erythroid maturation with its five isoforms." Blood. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Wada, H.: "A novel band 3 variant (band3 Hiroshima) : Impaired anion transport, increased haemolysis with stomato-cytosis, increased membrane rigidity, decreased membrane fluidity, and reduced glycophorin A." British Journal of Haematology. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Immunoelectron-microscopic evidence of markedly disrupted skeletal network andimpaired intramembrane particles in total deficiency of band 4.1 (allele 4.1 Madrid)." Blood. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Impaired binding of band 4.2, moderate impairememt of intramembrane particles and cytoskeletal network in situ, and decreased band 4.2 content in a homozygote of band 3 Fukuoka (G130R)." British Journal of Haematology. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Invite review : Expression of band 4.2 and its isoforms in human erythroid precursors." Biochimica Biophysica Acta. (in preparation). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inoue, T.: "The presence of two isoforms (72 and 74 kDas in equal amounts) of red cell band 4.2 protein in a family of herediary stomatocytosis." (in preparation). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Martin Dunitz, Ltd. (London, United Kingdom)" Atlas of Blood Deseases : Cytology and Histology. 1996. (201)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Invited review : Red cell membrane protein band 4.2 : Phenotypic, genetic, and electron microscopic aspects." Biochimica Biophysica Acta : Protein Structure and Molecular Enzymology Reviews. 1204. 131-148 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Invited review : Band 4.2 abnormalities in human red cells." American Journal of Medical Sciences. 307. 190-203 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Red cell membrane disorders in the Japanese population : Clinical, biochemical, electron microscopic, and genetic studies." International Journal of Hematology. 60. 23-38 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, A.: "A surface replica method : A useful tool for stusies of the cytoskeletal network in red cell membranes of normal subjects and patients with a beta-spectrin mutant (spectrin Le Puy : beta^<220/214>)." Virchows Archiv. 425. 297-304 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inoue, T.: "Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese pupulation." International Journal of Hematology. 60. 227-238 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inoue, T.: "Electron microscopic and physico-biochemical studies on disorganization of cytoskeletal network and inegral protein (band 3) in red cells of band 4.2 deficiency with a mutation (codon 142 GCT*ACT)." Internatinal Journal of Hematology. 59. 157-175 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Marechal, J.: "Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family : Ultrastructural aspect of the red cell skeleton." European Journal of Haematology. 52. 92-98 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sugihara, T.: "Deformation of swollen erythrocytes provides a model of sickling-induced leak pathways, including a novel bromide sensitive component." Blood. 83 (9). 2684-2691 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Expression of band 4.2 and its isoforms in human erythroid precursors." Blood. 84. 5a- (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Two novel mutations in red cell band 4.2 deficiency : Homozygous 175 GAT*TAT,and compound heterozygous 142 GCT*ACT with 317 CGC*TGC." Blood. 84. 7a- (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Abnormalities of red cell band 4.2 on its anchoring functions." Pathophysiology. 1(Suppl.). 235- (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Band 4.2 Shiga : 317 CGC*TGC in compound heterozygotes with 142 GCT*ACT results in band 4.2 deficiency and microspherocytosis" British Journal of Haematology. 91. 333-340 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Band 4.2 Komatsu : 523 GAT*TAT (175 Asp*Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2 hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network." International Journal of Hematology. 61. 165-178 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Marechal, J.: "Ethnic distribution of allele alpha^<LELY>, a low expression allele of red cell spectrin alpha-gene." British Journal of Haematology. 90. 553-556 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Okamoto, M.: "Hereditary spherocytic anemia with deletion of the short arm of chromosome 8." American Journal of Medical Genetics. 58. 225-229 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Complete band 3 deficiency in cattle : A model for hereditary spherocytosis with striking instability of cytoskeletal network with marked exo- and endocytosis." Blood. 86. 46- (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The definitive role of band 4.2 in completing whole assembly of red cell membane structure by the latest expression with five isoforms among membrane proteins at the terminal erythroid maturation." Blood. 86. 46- (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Electron microscopic evidence of impaired intramembane particles and of instability of cytoskeletal network in band 4.2 deficiency in human red cells." Cell Motility and the Cytoskeleton. 33. 95-105 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maillet, P.: "A stop codon in exon 30 of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya." Human Mutation. (in press). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Golan, D.E.: "Control of band 3 lateral and rotational mobility by band 4.2 in intact erythrocytes : Release of band 3 oligomers from low-affinity binding sites." Biophysical Journal. (in press). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inaba, M.: "Defective anion transport and marked spherocytosis with membane instability caused by hereditary total deficiency of red cell band 3 due to a nonsense mutation." Journal of Clinical Investigation. (in press). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Novel evidence of binding of red cell membrane protein band 4.2 to spectrins critical for the final membrane assembly and membrane stability." Proceedings of the International Symposium on Membrane Proteins : Structure.Function and Expression Control. 87- (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The completion of whole assembly of red cell membrane structure by the latest expression of band 4.2 with five isoforms among membrane proteins at the terminal erythroid maturation." Proceedings of the International Symposium on Membrane Proteins : Structure.Function and Expression Control. 88- (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Partial deficiency of band 4.2 due to its impared binding to a mutated band 3 in a homozygote of band 3 Fukuoka (130 GGA*AGA : Gly*Arg)." Proceedings of the Second Meeting of the European Haematology Association (May 29-June 1.1996.Paris). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Band 4.2 doublet Nagano : A trait with 72kD and 74kD peptides of red cell band 4.2 in equal amount, and with increased red cell membrane cholesterol and phosphatidylcholine." Proceedings of the Second Meeting of the European Haematology Association (May 29-June 1.1996.Paris). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Association of hereditary spherocytosis with partial deficiency of band 3 and absense of protein 4.2 : Compound heterozygosity for band 3 Okinawa and band 3 Fukuoka." Blood. (submitted). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The expression of band 4.2 in normal human erythroid maturation with its five isoforms." Blood. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Wada, H.: "A novel band 3 variant (band 3 Hiroshima) : Impaired anion transport, increased haemolysis with stomatocytosis, increased membrane rigidity, decreased membrane fluidity, and reduced glycophorin A." British Journal of Haematology. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Immunoelectron-microscopic evidence of markedly disrupted skeletal network and impaired intramembrane particles in total deficiency of band 4.1 (allele 4.1 Madrid)." Blood. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Impaired binding of band 4.2, moderate impairement of intramembrane particles and cytoskeletal network in situ, and decreased band 4.2 content in a homozygote of band 3 Fukuoka (G130R)." British Journal of Haematology. (to be submitted). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: "Invite review : Expression of band 4.2 and its isoforms in human erythroid precursors." Biochimica Biophysica Acta. (in preparation). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Inoue, T.: "The presence of two isoforms (72 and 74 kDas in equal amounts) of red cell band 4.2 protein in a family of hereditary stomatocytosis." (in preparation). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata, Y.: Martin Dunitz, Ltd. (London, United Kingdom). Atlas of Blood Deseases : Cytology and Histology, 1-201 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yawata,Y.: "Invited review: Red cell membrane protein band 4.2: Phenotypic,genetic,and electron microscopic aspects." Biochim.Biophys.Acta: Protein Structure and Molecular Enzymology Reviews. 1204. 131-148 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,Y.: "Invited review: Band 4.2 abnormalities in human red cells." Am.J.Med.Sci.307. 190-203 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,A.: "A surface replica method:A useful tool for studies of the cytoskeletal network in red cell membranes of normal subjects and patients with a β-spectrin mutant (spectrin Le Puy: β220/214)." Virchows Arch.425. 297-304 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Marechal,J.: "Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: Ultrastructural aspect of the red cell skeleton." Eur.J.Haematol.52. 92-98 (1994)

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      1994 Annual Research Report
  • [Publications] Inoue,T.: "Electron microscopic and physicobiochemical studies on disorganization of cytoskeletal network and integral protein (band 3)in red cells of band 4.2 deficiency with a mutation (codon 142 GCT→ACT)." Int.J.Hematol.59. 157-175 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,Y.: "Red cell membrane disorders in the Japanese population: Clinical,biochemical,electron microscopic,and genetic studies." Int.J.Hematol.60. 23-38 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Inoue,T.: "Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population." Int.J.Hematol.60. 227-238 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Sugihara,T.: "Deformation of swollen erythrocytes provides a model of sickling induced leak pathways,including a novel bromide sensitive component." Blood. 83. 2684-2691 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,Y.: "Expression of band 4.2 and its isoforms in human erythroid precursors." Blood. 84. 5a- (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,Y.: "Two novel mutations in red cell band 4.2 deficiency: Homozygous 175 GAT→TAT,and compound heterozygous 142 GCT→ACT with 317 CGC→TGC." Blood. 84. 7a- (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,Y.: "Abnormalities of red cell band 4.2 on its anchoring functions." Pathophysiol.1(Suppl). 235- (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Kanzaki,A.: "Band 4.2 Komatsu: 523 GAT→TAT(175 Asp→Tyr)in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2,hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network." Int.J.Hematol.(in press). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Marechal,J.: "Ethnic distribution of allele α^<LELY>,a low expression allele red cell spectrin α-gene." Br.J.Haematol.(in press). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Maillet,P.: "A stop codon in exon X of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya." Hum.Mutat.(in press). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,A.: "Complete band 3 deficiency in bovine red cells. II. Marked spherocytosis with budding formation due to striking instability of cytoskeletal network." J.Clin.Invest.(submitted). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yawata,Y.: "Electron microscopic evidence of impaired intramembrane particles and of instability of cytoskeletal network in band 4.2 deficiency in human red cells." Cell Motil.Cytoskeleton. (submitted). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Kanzaki,A.: "Band 4.2 Shiga: A novel compound heterozygous mutation of 317 CGC→TGC with 142 GCT→ACT in red cell band 4.2deficiencywithmicrospherocytosis." Br.J.Haematol.(submitted). (1995)

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      1994 Annual Research Report
  • [Publications] 八幡義人: "遺伝子診断と遺伝子治療(村松正実、平井久丸 編)" 東京化学同人(東京), 7 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 八幡義人: "血液病学 第2版(三輪史郎、柴田昭、青木延雄 編)" 文光堂(東京), 38 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 神崎暁郎: "Annual Review血液1995" 中央医学社(東京), 19 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 八幡義人: "遺伝子診断実践ガイド(中井利昭 他編)" 中央医学社(東京), 10 (1995)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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