Výsledky vyhledávání - "Akio Kanzaki"

Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: Ultrastructural aspect of the red cell skeleton

Autor: Nicole Alloisio, Kimiko Ikoma, Akira B. Miura, Yoshihito Yawata, Ayumi Yawata, Trigona Koffa, J. Delaunay, R. Wilmotte, Kaoru Takanashi, J Maréchal, Akio Kanzaki, Hideho Wada, Takafumi Inoue

Publikováno v: European Journal of Haematology. 52:92-98

A dominantly-inherited hereditary elliptocytosis of intermediate severity was recorded in a Japanese family from Yamagata. The condition was associated with a spectrin truncated beta-chain (MW: 214 kD; 31% of total beta-spectrin), and a defect of mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14f632f5b369c8be2833fb5b7b8a3f1d
https://doi.org/10.1111/j.1600-0609.1994.tb01292.x

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Relationships between DNA Methylation and Expression in Erythrocyte Membrane Protein (Band 3, Protein 4.2, and 3-Spectrin) Genes during Human Erythroid Development and Differentiation

Autor: Frauke Naumann, Michael Zeschnigk, Ines Zuther, Hideho Wada, Walter Doerfler, Birgit Schmitz, Yoshihito Yawata, Hidekazu Nakanishi, Ayumi Yawata, Ralph Remus, Akio Kanzaki, Takashi Sugihara

Publikováno v: International Journal of Hematology. 82:422-429

Red cell membrane proteins are sequentially expressed during erythroid development and differentiation. Spectrins have already been synthesized in early erythroid precursors such as pronormoblasts, and band 3 (B3) appears at nearly the same stage. Pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6f1eb0d71ff3159f29247e06530aaeea
https://doi.org/10.1532/ijh97.05058

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The state of DNA methylation in the promoter regions of the human red cell membrane protein (band 3, protein 4.2, andβ-spectrin) genes

Autor: Michael Zeschnigk, Walter Doerfler, HidehoAkio Wada, Ralph Remus, Birgit Schmitz, Akio Kanzaki, Ines Zuther, Yoshihito Yawata, Ayumi Yawata, Gudrun Schell, Indrikis Muiznieks

Publikováno v: Gene Function & Disease. 2:171-184

The state of methylation of the 5′-CpG-3′ sites is known to be linked to the regulation of promoter function by modulating DNA-protein interactions and to the structure of chromatin. As part of a project to determine methylation patterns in the h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d71041ef9b4c5fb2b1b677730802a467
https://doi.org/10.1002/1438-826x(200112)2:4<171::aid-gnfd171>3.0.co

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Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied

Autor: Yoshihito Yawata, Ayumi Yawata, Hidekazu Nakanishi, Mayumi Kaku, Akio Kanzaki

Publikováno v: Hematology. 6:399-422

This study describes the characteristic features of the incidence of hereditary red cell membrane disorders in the Japanese population based on studies of 1014 cases of these disorders from 605 kindred. Among them, there were 581 cases of hereditary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1629a3fb6c38b48cb01bc24601365bb
https://doi.org/10.1080/10245332.2001.11746596

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Ankyrin gene mutations in japanese patients with hereditary spherocytosis

Autor: Yoshihito Yawata, Ayumi Yawata, Osamu Yamada, Akio Kanzaki, Hidekazu Nakanishi

Publikováno v: International Journal of Hematology. 73:54-63

We studied mutations of the ankyrin-1 (ANK-1) gene of genomic DNA from Japanese patients with hereditary spherocytosis (HS). Forty-nine patients from 46 unrelated families were included in this study. Of these patients, 19 cases from 16 unrelated fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1684e58bf8ea1cc9a23303e4912285db
https://doi.org/10.1007/bf02981903

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Genotypic and phenotypic expressions of protein 4.2 in human erythroid cells

Autor: Yoshihito Yawata, Ayumi Yawata, Akio Kanzaki

Publikováno v: Gene Function & Disease. 1:61-81

Protein 4.2 (P4.2) is one of the major red cell membrane proteins, which binds to the membrane skeletal network and to the cytoplasmic domain of anion exchanger band 3, and also interacts with ankyrin. P4.2 plays an important role in maintaining the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07439832985c2beeeceff6ea35d1b282
https://doi.org/10.1002/1438-826x(200009)1:2<61::aid-gnfd61>3.0.co

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Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near‐normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency

Autor: Masami Takezono, Naoto Okamoto, Yoshihito Yawata, Ayumi Yawata, Osamu Yamada, Takashi Sugihara, Naokazu Nagata, Yasuyuki Katayama, Akio Kanzaki, Mayumi Kaku, Hideho Wada, Takafumi Inoue

Publikováno v: British Journal of Haematology. 102:932-939

The characteristics of phenotypic expression were studied in a Japanese family with hereditary spherocytosis and an extremely rare homozygous missense mutation of the band 3 gene (band 3 Fukuoka: G130R). The homozygous unsplenectomized proband was a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ef93ce39f194100d3045d9ef7c7555
https://doi.org/10.1046/j.1365-2141.1998.00868.x

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Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis

Autor: Hideho Wada, Takafumi Inoue, Sandrine Hayette, L Morle, A. Vallier, Fumihide Inoue, J. Delaunay, Nicole Alloisio, Yoshihito Yawata, Ayumi Yawata, Akio Kanzaki, Reiko Matsuyama

Publikováno v: British Journal of Haematology. 99:522-530

Unlike previously reported cases with total protein 4.2 deficiency due to mutations in the EPB42 gene, we describe a total deficiency in protein 4.2 with normal EPB42 alleles. Hereditary spherocytosis (HS) was observed in a Japanese woman (unsplenect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b38658f3693d3acbd2f2f250f44081d1
https://doi.org/10.1046/j.1365-2141.1997.4263231.x

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A Markedly Disrupted Skeletal Network With Abnormally Distributed Intramembrane Particles in Complete Protein 4.1-Deficient Red Blood Cells (Allele 4.1 Madrid): Implications Regarding a Critical Role of Protein 4.1 in Maintenance of the Integrity of the Red Blood Cell Membrane

Autor: Akio Kanzaki, Florinda Gilsanz, Jean Delaunay, Yoshihito Yawata, Ayumi Yawata

Publikováno v: Blood. 90:2471-2481

Electron microscopic (EM) studies were performed to clarify the interactions of membrane proteins in the red blood cell membrane structure in situ of a homozygous patient with total deficiency of protein 4.1 who carried a point mutation of the downst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8745c13b1c0c82758cf6aef8a00f2e1c
https://doi.org/10.1182/blood.v90.6.2471.2471_2471_2481

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Multiple cerebral infarctions in a patient with refractory idiopathic thrombocytopenic purpura

Autor: Osamu Yamada, Akio Kanzaki, Yoshihito Yawata, Hideho Wada, Takafumi Inoue, Ayako Ueki, Takashi Sugihara, Takemi Otsuki, T. Funakawa

Publikováno v: Journal of Internal Medicine. 241:253-256

Multiple cerebral infarctions were observed in a patient with refractory idiopathic thrombocytopenic purpura who was positive for lupus anticoagulant (LAC) when her platelet counts were 2000 microL-1. It is suspected that LAC may have played an impor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea3e0ff801f4f330c911afc19fea0da
https://doi.org/10.1046/j.1365-2796.1997.72899000.x

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