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Molecular biochemistry and electron microscopy in normal and abnormal human red cell membrane protein 4.2

Research Project

Project/Area Number 07670180
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pathological medical chemistry
Research InstitutionKAWASAKI MEDICAL SCHOOL

Principal Investigator

KANZAKI Akio  Kawasaki Medical School, Medicine, Assistant Professor, 医学部, 講師 (40148698)

Co-Investigator(Kenkyū-buntansha) 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)
YAWATA Yoshihito  Kawasaki Medical School, Medicine, Professor, 医学部, 教授 (70069011)
Project Period (FY) 1995 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1996: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1995: ¥1,300,000 (Direct Cost: ¥1,300,000)
KeywordsRed cell membrane / Gene analysis / Protein 4.2 / Band 3 / Membrane rheology / Electron microscopy / Morphogenesis / Protein 4.2 / Band 3 / Red cell membrane proteins / Band4.2 / Morphogenesis / Gene mutation / Microelectrongraphy
Research Abstract

The following results were obtained for the recent two years (1995-1997)
1. Protein band 4.2 (P4.2) anomalies in hereditary hemolyic anemia
(1) Complete P4.2 deficiency type
(1) P4.2 gene mutations :
Two novel mutations were detected : Allele Komatsu (523GAT*TAT) and allele Shiga (317CGC*TGC).
Marked derangements were observed on the intramembrane particles and the cytoskeletal network in two types by electron microscopy.
(2) Protein band 3 (B3) gene mutations :
Two novel mutations were detected ; First, allele Okinawa (G714R) with Memphis II polymorphism (K56E+P854L) and allele Fukuoka (G130R) in compound heterozygous state. It was indicated that these mutations resulted to complete P4.2 protein deficiency with marked decrease of B3 protein.
Secondly, a combined deficiency of P4.2 and B3 proteins was described as the first case in the world. The B3 gene analysis showed a C*T nucleotide substitution resulting in a nonsense mutation to codon 646.
(2) Partial P4.2 deficiency type
Most cases of thi … More s type were found in hereditary spherocytosis (HS) with partial B3 deficiency.
30 HS cases were analyzed on the B3 genes by the method of PCR/SSCP.
Four mutations were detected in 5,12,17 and 19th exons of the B3 genes.
(3) P4.2 variant type
The pathogenesis of P4.2 doublet Nagano (72/74kD) was studied by biochemistry and molecular biology.
A novel mutation was detected in exon 10 at 1463nt (R488H) of the P4.2 gene in heterozygous state.
2. Morphogenesis of red cell membranes
(1) Protein expression in human erythroblasts
It was shown that the expression of membrane proteins in erythroid differentiation was initiated in spectrins, glycophorins and band 3, followed by protein 4.1 and ankyrin, and completed by the expression of protein 4.2 at the latest stage of the differentiation.
(2) Physiological functions of P4.2 protein
Biochemical and immunoelectron microscopic studies showed the posibility that P4.2 protein might play a role in connecting the spectrin network to B3 protein as a kind of anchoring protein. Less

Report

(3 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • Research Products

    (112 results)

All Other

All Publications (112 results)

  • [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.61. 165-178 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Marechal,J.: "Ethnic distribution of allele α^<LELY>,a low expression allele of red cell spectrin α‐gene." Brit. J. Haematol.90. 553-556 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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." Brit. J. Haematol.91. 333-340 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Okamoto,N.: "Hereditary spherocytic anemia with deletion of the short arm of chromosome 8." Am. J. Med. Genet.58. 225-229 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A.: "The definitive role of band 4.2 in completing whole assembly of red cell membrane structure by the latest expression with five isoforms among membrane proteins at the terminal erythroid maturation." Blood. 86. 469a- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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. 468a- (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [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. 33. 95-105 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Inaba, M.: "Defective anion transport and marked spherocytosis with membrane instability caused by herediary total deficiency of red cell band 3 due to a nonsense mutation." J. Clin. Invest.97. 1804-1817 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y.: "Partial deficiency of band 4.2 due to its impaired binding to a mutated band 3 in a homozygote of band 3 Fukuoka (130 GGA→AGA : Gly→Arg)." Brit. J. Haematol.93 (Suppl.2). 199- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata,Y.: "Band 4.2 doulbet Nagano : A trait with 72kD and 74kD prptides of red cell band 4.2 in equal amount, and with increased red cell membrace cholesterol and phosphatidylcholine." Brit. J. Haematol.93 (Suppl. 2). 199- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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. 8・4. 366-368 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y.: "Striking disruption of skeletal meshwork in situ with clustered ankyrin and spectrins and uneven distribution of intramembrane particles in complete protein 4.1 deficiency 4.1 (-) Madrid." Blood. 88・10 (Suppl.). 5a- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A.: "A novel combined anomaly of band 3 and glycophorin A : Their decreased glycosylation, impaired anion transport, markedly disrupted skeletal metwork with decreased deformability, and umcompensated hereditary stomatocytosis with normal band 3 gene and mutated (L75I) glycophorin A gene." Blood. 88・10 (Suppl.1). 3a- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y.: "Posttranslational modification of protein 4.2 : A protein 4.2 doublet Nagano with its 72 and 74 kDs." Blood. 88・10 (Suppl.1). 8b- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Inoue, T: "Even partial deficiency of protein 4.2 is critical for integrity of skeletal network in situ and intramembrane particles in a homozygous band 3 Fukuoka (G130R) with its impaired binding to protein 4.2." Blood. 88・10 (Suppl.1). 5b- (1996)

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

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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 of Membrane Proteins : Structure, Function and Expression Control. 88- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, A.: "A markedly disrupted skeletal network with abnormally distributed intramembrane particles in complete protein 4.1 deficient red cells (allele 4.1 Madrid) : Implications regarding a critical role of protein 4.1 in maintenance of the integrity of the red cell membrace." Blood. (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A.: "Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis : Compound heterozygosity for band 3 Okinawa and band 3 Fukuoka." Brit. J. Haematol.96 (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 八幡愛弓: "細胞骨格蛋白の著しい不安定性を呈したウシband3完全欠損症:球状赤血球形成機序に関する一考察" Int. J. Hematol.61 (Suppl.1). 261- (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "赤血球膜蛋白band4.2とband3複合欠損型を示す遺伝性球状赤血球症の一家系" Int. J. Hematol.61 (Suppl.1). 258- (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 井上孝文: "Truncated β‐spectrin異常を認めた遺伝性楕円赤血球症(HE Spectrin Nagoya β^<220/217>)の解析" Int. J. Hematol.61 (Suppl.1). 259- (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 和田秀穂: "血管内溶血を主体とし,IgA型抗赤血球抗体を認めた自己免疫性溶血性貧血(AIHA)の1例" 臨床血液. 36・9. 1121- (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "赤血球膜異常症" 治療. 78・8. 2737-2742 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "溶血性貧血" 臨床医. 22. 516-517 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "赤血球の形態異常を伴うその他の溶血性貧血" 臨床医. 22. 2492-2501 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 賀来万由美: "赤血球膜蛋白band4.2異常症(P4.2doublet):赤血球膜脂質異常を伴い,摘脾後赤血球増多を示した一家系" Int. J. Hematol.63 (Suppl. 1). 244- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 竹園雅美: "赤血球膜蛋白band4.2とband3複合欠損型を示す遺伝性球状赤血球症(Band 3 Okinawa)の一家系" Int. J. Hematol.63 (Suppl. 1). 245- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 井上孝文: "赤血球膜band4.2部分欠損症を伴ったband3異常症(band 3 Fukuoka)における赤血球膜病態の生化学的・電顕的研究" Int. J. Hematol.63 (Suppl. 1). 245- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 八幡愛弓: "赤血球膜蛋白band4.2のspectrin結合による骨格蛋白網上の局在の生化学的・免疫電顕的研究" Int. J. Hematol.63 (Suppl. 1). 245- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "赤血球膜形態形成と構築における膜蛋白band4.2の意義に関する遺伝生化学的・電顕的研究" Int. J. Hematol.63 (Suppl. 1). 245- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 賀来万由美: "赤血球膜蛋白band4.2異常症(P4.2doublet):摘脾後赤血球増多を示し,赤血球膜脂質異常を伴った一家系" 生化学. 68・7. 1147- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 竹園雅美: "Band3およびGlycophorinAの糖鎖異常を伴った先天性溶血性貧血症例におけるそれらの膜糖蛋白の生化学的,電顕的検討および遺伝子解析" 生化学. 68・7. 1147- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 八幡愛弓: "band4.1の意義:Band4.1完全欠損症(4.1^0Madrid)における赤血球細胞骨格蛋白網およびband3粒子の膜in situ状態の検索" 生化学. 68・7. 1147- (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 八幡愛弓: "細胞骨格蛋白の著しい不安定性を呈したウシband3完全欠損症:球状赤血球形成機序に関する一考察" 第57回日本血液学会総会,名古屋,7月1日. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "赤血球膜蛋白band4.2とband3複合欠損型を示す遺伝性球状赤血球症の一家系" 第57回日本血液学会総会,名古屋,6月30日. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 井上孝文: "Truncatedβ‐spectrin異常を認めた遺伝性楕円赤血球症(HE Spectrin Nagoyaβ^<220/217>)の解析" 第57回日本血液学会総会,名古屋,6月30日. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata,Y.: "Marked spherocytosis with budding formation,striking instability of cytoskeletal natwork in hereditary bovine red cell band 3 deficiency." Gordon Research Conference in 1995 "Red Cells",Plymouth,USA,August 7. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 和田秀穂: "血管内溶血を主体とし,IgA型抗赤血球抗体を認めた自己免疫性溶血性貧血(AIHA)の1例" 第37回日本臨床血液学会総会,京都,10月25日. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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." The 37th Annual Meeting of the American Society of Hematology,Seattle. USA. December4. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki,A.: "The definitive role of band 4.2 in completing whole assembly of red cell membrane structure by the latest expression with five isoforms among membrane proteins at the terminal erythroid maturation." The 37th Annual Meetings of the American Society of Hematology,Seattle,USA,December 4. (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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." The 2td International Symposium on Membrane Proteins : Structure,Function and Expression Control,Fukuoka,February 7. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 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." The 2td International Symposium on Membrane Proteins : Structure,Function and Expression Control,Fukuoka,February 7. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 賀来万由美: "赤血球膜蛋白band4.2異常症(P4.2doublet):赤血球膜脂質異常を伴い,摘脾後赤血球増多を示した一家系" 第58回日本血液学会総会,宇都宮,4月19日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 竹園雅美: "赤血球膜蛋白band4.2とband3複合欠損型を示す遺伝性球状赤血球症(Band 3 Okinawa)の一家系" 第58回日本血液学会総会,宇都宮,4月19日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 井上孝文: "赤血球膜band4.2部分欠損症を伴ったband3異常症(band 3 Fukuoka)における赤血球膜病態の生化学的・電顕的研究" 第58回日本血液学会総会,宇都宮,4月19日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 八幡愛弓: "赤血球膜蛋白band4.2のspectrin結合による骨格蛋白網上の局在の生化学的・免疫電顕的研究" 第58回日本血液学会総会,宇都宮,4月19日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "赤血球膜形態形成と構築における膜蛋白band4.2の意義に関する遺伝生化学的・電顕的研究" 第58回日本血液学会総会,宇都宮,4月19日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata,Y.: "Partial deficiency of band 4.2 due to its impaired binding to a mutated band 3 in a homozygote of band 3 Fukuoka (130GGA→AGA : Gly→Arg)." The 2nd Meetings of the European Haematology Association,Paris,France,May 31. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata,Y.: "Band 4.2 doublet Nagano : A trait with 72kD and 74 kD peptides of red cell 4.2 in equal amount,and with increased red cell membrace cholesterol and phosphatidylchoiline." The 2nd Meetings of the European Haematology Association,Paris,France,May 31. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 賀来万由美: "赤血球膜蛋白band4.2異常症(P4.2doublet):摘脾後赤血球増多を示し,赤血球膜脂質異常を伴った一家系" 第69回日本生化学会大会・第19回日本分子生物学会年会合同年会,札幌,8月29日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 竹園雅美: "Band3およびGlycophorinAの糖鎖異常を伴った先天性溶血性貧血症例におけるそれらき膜糖蛋白の生化学的,電顕的検討および遺伝子解析" 第69回日本生化学会大会・第19回日本分子生物学会年会合同年会,札幌,8月29日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 八幡愛弓: "Band4.1の意義:Band4.1完全欠損症(4.1^0Madrid)における赤血球細胞骨格蛋白網およびband3粒子の膜in situ状態の検索" 第69回日本生化学会大会・第19回日本分子生物学会年会合同年会,札幌,8月29日. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata,Y.: "Striking disruoption of skeletal meshwork in situ with clustered ankyrin and spectrins and uneven distribution of intramembrane particles in complete protein 4.1 deficiency in 4.1 (‐) Madrid." The 38th Annual Meetings of the American Society of Hematology,Orland,USA,December 7. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki,A.: "A novel combined anomaly of band 3 and glycophorin A : Their decreased glycosylation,impaired anion transport,markedly disrupted akeletal network with decreased deformability,and uncompensated hereditary stomatocytosis with normal band 3 gene and mutated (L75I) glycophorin A gene." The 38th Annual Meetings of the American Society of Hematology,Orland,USA,December 7. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata,Y.: "Posttranslation modification of protein 4.2 : A protein 4.2 doublet Nagano with its 72 and 74 kDs." The 38th Annual Meetings of the American Society of Hematology,Orland,USA,December 7. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Inoue,T.: "Even partial deficiency of protein 4.2 is critical for integrity of skeletal network in situ and intramembrane particles in a homozygous band 3 Fukuoka (G130R) with its impaired binding to protein 4.2." The 38th Annual Meetings of the American Society of Hematology,Orland,USA,December 7. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 神崎暁郎: "「遺伝性球状赤血球症」Annual Review血液1995" 中外医学社(東京), 77-95 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A., Yawata, Y., Yawata, A., Inoue, T., Okamoto, N., Wada, H., Harano, T., Harano, K., Wilmotte, R., Haytte, S., Nakamura, Y., Niki, T., Kawamura, Y., Nakamura, S., Matsuda, T.: "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.61. 165-178 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Marechal, J., Wilmotte, R., Kanzaki, A., Dhermy, D., Garbarz, M., Galand, C., Tang, T.K., Yawate, Y., Delaunay, J.: "Ethnic distribution of allele alphaLELY,a low expression allele of red cell spectrin alpha-gene." Brit. J.Haematol.90. 553-556 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A., Yasunaga, M., Okamoto, N., Inoue, T., Yawta, A., Wada, H., Andoh, A., Hodohara, K., Fujiyama, Y., Bamba, T., Harano, T., Harano, K., Yawata, Y.: "Band 4.2 Shiga : 317 CGC*TGC in compound heterozygotes with 142 GCT*ACT results in band 4.2 deficiency and microspherocytosis." Brit. J.Haematol.91. 333-340 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Okamoto, N., Wada, Y., Nakamura, Y., Nakayama, M., Chiyo, H., Murayama, K., Inoue, T., Kanzaki, A., Yawata, Y., Hirano, A., Miwa, S.: "Hereditary spherocytic anemia with deletion of the short arm of chromosome 8." Am. J.Med. Genet.58. 225-229 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A., Wada, H., Yawata, A., Yawata, Y.: "The definitive role of band 4.2 in completing whole assembly of red cell membrane structure by the latest expression with five isoforms among membrane proteins at the terminal erythroid maturation." Boold. 86. 469a (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y., Inaba, M., Yawata, A., Kanzaki, A., Ono, K., Takeuchi, M., Sato, K., Maede, Y., Takakuwa, 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. 468a (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y., Yawata, A., Kanzaki, A., Inoue, T., Okamoto, N., Uehira, K., Yasunaga, M., Nakamura, 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. 33. 95-105 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Inaba, M., Yawata, A., Koshino, I., Sato, K., Takeuchi, M., Takakuwa, Y., Manno, S., Yawata, Y., Kanzaki, A., Sakai, J., Ban, A., Ono, K., Maede, Y.: "Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 due to a nonsense mutation." J.Clin. Invest.97. 1804-1817 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y., Kanzaki, A., Inoue, T., Yawata, A., Kaku, M., Takezono, M., Okamoto, N., Wada, H., Sugihara, T., Yamada, O., Katayama, Y., Nagata, N.: "Partial deficiency of band 4.2 due to its impaired binding to a mutated band 3 in a homozygote of band 3 Fukuoka (130GGA*AGA : Gly*Arg)." Brit. J.Haematol.93 (Suppl. 2). 199 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y., Kanzaki, A., Sugihara, T., Inoue, T., Yawata, A., Kaku, M., Takezono, M., Shimohira, Y., Ishida, F., Kobayashi, H.: "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 with phosphatidylcholine." Brit. J.Haematol.93 (Suppl. 2). 199 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Maillet, P., Inoue, T., Kanzaki, A., Yawata, A., Kato, K., Baklouti, F., Delaunay, J., Yawata, Y.: "A stop codon in exon 30 of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya." Human Mutation.8 (4). 366-368 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y., Yawata, A., Kanzaki, A., Gilsanz, F., Delaunay, J.: "Striking disruption of skeletal meshwork in situ with clustered ankyrin and spectrins and uneven distribution of intramembrane particles in complete protein 4.1 deficiency in 4.1 (-) Madrid." Blood. 88 (10) Supple 1. 5a (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A., Wada, H., Yawata, A., Uchikawa, M., Fujimoto, T., Fujimura, K., Yawata, Y/: "A novel combined anomaly of band 3 and glycophorin A : Their decreased glycosylation, impaired anion transport, markedly disrupted skeletal network with decreased deformability, and uncompensated hereditary stomatocytosis with normal band 3 gene and mutated (L75I) glycophorin A gene." Blood. 88 (10) Suppl 1. 3a (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, Y., Kanzaki, A., Inoue, T., Kaku, M., Yawata, A., Takezono, M., Shimohira, Y., Ishida, F., Kobayashi, H.: "Postranslational modification of protein 4.2 : A protein 4.2 doublet Nagano with its 72 and 74 kDs." Blood. 88 (10) Suppl 1. 8b (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Inoue, T., Kanzaki, A., Yawata, A., Kaku, M., Takezono, M., Wada, H., Sugihara, T., Yamada, O., Katayama, Y., Nagata, N., Yawata, Y.: "Even partial deficiency of protein 4.2 is critical for integrity of skeletal network in situ and intramembrane particles in a homozygous band 3 Fukuoka (G130R) with its impaired binding to protein 4.2." Blood. 88 (10) Suppl 1. 5b (1996)

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

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yawata, A., Kanzaki, A., Gilsanz, F., Delaunay, A., Yawata, Y.: "A markedly disrupted skeletal network with abnormally distributed intramembrane particles in complete protein 4.1 deficient red cells (allel 4.1 Madrid) : Implications regarding a critical role of protein 4.1 in maintenance of the integrity of the red cell membrane." Blood. (in press). (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Kanzaki, A., Haytte, S., Morle, L., Inoue, F., Matsuyama, R., Inoue, T., Yawata, A., Wada, H., Vallier, A., Alloisio, N., Yawata, Y., Delaunay, J.: "Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis : Compound heterozygosity for band 3 Okinawa and band 3 Fukuoka." Brit. J.Haematol.96 (in press). (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [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. 33. 95-105 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Inaba,M.: "Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 due to a nonsense mutation." J.Clin.Invest.97. 1804-1817 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yawata,Y.: "Partial deficiency of band 4.2 due to its impaired binding to a mutated band 3 in a homozygote of band 3 Fukuoka (130GGA→AGA : Gly-Arg)." Brit.J.Haematol.93(suppl.2). 199- (1996)

    • Related Report
      1996 Annual Research Report
  • [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." Brit.J.Haematol.93(suppl.2). 199- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Maillet,P.: "A stop codon in exon 30 of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya." Human Mutation. 8・4. 366-368 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yawata,Y.: "Striking disruption of skeletal meshwork in situ with clustered ankyrin and spectrins and uneven distribution of intramembrane particles in complete protein 4.1 deficiency in 4.1(-) Madrid." Blood. 88・10(suppl.1). 5a- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Kanzaki,A.: "A novel combined anomaly of band 3 and glycophorin A : Their decreased glycosylation,impaired anion transport,markedly disrupted skeletal network with decreased deformability,and umcompested hereditary stomatocytosis with normal band 3 gene and mutated(L751) glycophorin A gene." Blood. 88・10(suppl.1). 3a- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yawata,Y.: "Posttranslational modification of protein 4.2 : A protein 4.2 doublet Nagano with its 72 and 74 kDs." Blood. 88・10(suppl.1). 8b- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Inoue,T.: "Even partial deficiency of protein 4.2 is critical for integrity of skeletal network in situ and intramembrane particles in a homozygous band 3 Fukuoka(G130R) with its impaired binding to protein 4.2." Blood. 88・10(suppl.1). 5b- (1996)

    • Related Report
      1996 Annual Research Report
  • [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)

    • Related Report
      1996 Annual Research Report
  • [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)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yawata,A.: "A markedly disrupted skeletal network with abnormally distributed intramembrane particles in complete protein 4.1 deficient red cells(allele 4.1 Madrid) : Implications regarding a critical role of protein 4.1 in maintenance of the integrity of the red cell mambrane." Blood. (in press). (1997)

    • Related Report
      1996 Annual Research Report
  • [Publications] Kanzaki,A.: "Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis : Compound heterozygosity for band 3 Okinawa and band 3 Fukuoka." Brit.J.Haematol.96(in press). (1997)

    • Related Report
      1996 Annual Research Report
  • [Publications] 神崎暁郎: "赤血球膜異常症" 治療. 78・8. 2737-2742 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 神崎暁郎: "溶血性貧血" 臨床医学. 22(Suppl). 516-517 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 神崎暁郎: "赤血球の形態異常を伴うその他の溶血性貧血" 日本臨牀. 54・9. 2492-2501 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 賀来万由美: "赤血球膜蛋白band4.2異常症(P4.2doublet):摘脾後赤血球膜増多を示し,赤血球膜脂質異常を伴った一家系" 生化学. 68・7. 1147- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 竹園雅美: "赤血球膜蛋白band4.2とband3複合欠損型を示す遺伝性球状赤血球症(Band3 Okinawa)の一家系" Int.J.Hematol.63(suppl.1). 245- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 井上孝文: "赤血球膜band4.2部分欠損症を伴ったband3異常症(band3 Fukuoka)における赤血球膜病態の生化学的・電顕的研究" Int.J.Hematol.63(suppl.1). 245- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 八幡愛弓: "赤血球膜蛋白band4.2のspectrin結合による骨格蛋白網上の局在の生化学的・免疫電顕的研究" Int.J.Hematol.63(suppl.1). 245- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 神崎暁郎: "赤血球膜形態形成と構築における膜蛋白band4.2の意義に関する遺伝生化学的電顕的研究" Int.J.Hematol.63(suppl1). 245- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 賀来万由美: "赤血球膜蛋白band4.2異常症(P4.2doublet):赤血球膜脂質異常を伴い,摘脾後赤血球増多を示した一家系" Int.J.Hematol.63(suppl.1). 244- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 竹園雅美: "Band3およびGlycophorin Aの糖鎖異常を伴った先天性溶血性貧血症例におけるそれらの膜糖蛋白の生化学的,電顕的検討および遺伝子解析" 生化学. 68・7. 1147- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 八幡愛弓: "Band4.1の意義:Band4.1完全欠損症(4.1 Madrid)における赤血球細胞骨格蛋白網およびband3粒子の膜in situ状態の検索" 生化学. 68・7. 1147- (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Kanzaki, A.: "Band 4.2 Komatsu:523GAT→TAT (175Asp→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)

    • Related Report
      1995 Annual Research Report
  • [Publications] Kanzaki, A.: "Band 4.2 Shiga : 317CGC→TGC in compound heterozygotes with 142 GCT→ACT results in band 4.2 deficiency and microspherocytosis." British Journal of Haematology. 91. 333-340 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Marechal, J.: "Ethnic distribution of allele α^<LELY>, alow expression allele of red cell spectrin α-gene." British Journal Haematology. 90. 553-556 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Okamoto, N.: "Hereditary spherocytic anemia with deletion of the short arm of chromosome 8." American Journal of Medical Genetics. 58. 225-229 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Kanzaki, A.: "The definitive role of band 4.2 in completing whole assembly of red cell membrane structure by the latest expression with five isoforms among membrane proteins at the terminal erythroid maturation." Blood. 86. 468a (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Yawata, Y.: "Complete band 3 deficiency in cattle : A model for hereditary spherocytosis with striking instability of cytoskeletal metwork with marked exo-and endocytosis" Blood. 86. 468a (1995)

    • Related Report
      1995 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 Motility and the Cytoskeleton. 33. 95-105 (1996)

    • Related Report
      1995 Annual Research Report
  • [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)

    • Related Report
      1995 Annual Research Report
  • [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)

    • Related Report
      1995 Annual Research Report
  • [Publications] Inaba, M.: "Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 due to a nonsense mutation." Journal of Clinical Investigation. (in press). (1996)

    • Related Report
      1995 Annual Research Report
  • [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)

    • Related Report
      1995 Annual Research Report

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Published: 1995-04-01   Modified: 2016-04-21  

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