Výsledky vyhledávání - "Noriko, Fujihara"

Akademický článek

Relationship Between Difficulties Encountered in School Life or Daily Life by Professional Training College Students and Their Sources of Advice.

Autor: Noriko Fujihara, Shin-ichi Yoshioka

Publikováno v: Yonago Acta Medica; 2020, Vol. 63 Issue 1, p20-27, 8p

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Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome

Autor: Kazuyoshi Yamauchi, Masako Hirota-Kawadobora, Saki Mukai, Yuka Takezawa, Kazuyuki Matsuda, Yoshihiko Hidaka, Seiko Kubota, Takayuki Honda, Noriko Fujihara, Kenichi Koike

Publikováno v: Molecular Immunology. 49:48-55

Mutations and polymorphisms of factor H gene (FH1) are known to be closely involved in the development of atypical hemolytic uremic syndrome (aHUS). Several groups have identified disease risk mutations and polymorphisms of FH1 for the development of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e0f9c2c03610d9f736a5165e9fe76ac
https://doi.org/10.1016/j.molimm.2011.07.017

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A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia

Autor: Toshiro Ito, Fumihiro Ishida, Ayumi Haneishi, Nobuo Okumura, Noriko Fujihara, Fumiko Terasawa, Kazuyoshi Yamauchi

Publikováno v: Thrombosis and haemostasis. 104(2):213-223

SummaryWe found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the γ-chain. This frameshift results

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe33ecdbd08139c01b6066bd8f77ba0
https://tsukuba.repo.nii.ac.jp/records/20330

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B:b interactions are essential for polymerization of variant fibrinogens with impaired holes ‘a’

Autor: Nobuo Okumura, Kazuyoshi Yamauchi, Fumiko Terasawa, Noriko Fujihara, Masako Hirota-Kawadobora, Susan T. Lord, Hiroyoshi Ota, Ayumi Haneishi

Publikováno v: Journal of Thrombosis and Haemostasis. 5:2352-2359

This is an electronic version of an Article published in Journal of Thrombosis and Haemostasis 2007; 5(12): 2352-2359.
Article
JOURNAL OF THROMBOSIS AND HAEMOSTASIS. 5(12): 2352-2359 (2007)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd99b837d9132eff03b31bc7d93f1a7d
https://doi.org/10.1111/j.1538-7836.2007.02793.x

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In vitro expression of β-thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5' splice site and alternative aberrant RNA splicing

Autor: Shun'ichiro Taniguchi, Eizaburo Ishii, Minoru Tozuka, Nobuo Okumura, Masako Hirota-Kawadobora, Noriko Fujihara, Kazuyoshi Yamauchi, S Ishikawa, Tsutomu Katsuyama

Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 44:573-578

We previously reported a case of heterozygous β-thalassaemia with IVS1-1G > C substitution in the β-globin gene and a non-detectable level of mutant mRNA in the patient's reticulocytes. The purpose of this study was to determine whether the transcr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0080b16c22d6dac39670c4e73efcf870
https://doi.org/10.1258/000456307782268246

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In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2AG causing abnormal RNA splicing

Autor: Satoshi Shigematsu, Takayuki Honda, Fumiko Terasawa, Kazuyoshi Yamauchi, Toshiko Kumagai, Nobuo Okumura, Noriko Fujihara, Yuka Kamijyo

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 411(17-18)

Background We reported a case of hypofibrinogenemia Matsumoto IX (M IX) caused by a novel compound heterozygous mutation involving an FGB IVS6 deletion of 4 nucleotides (Δ4b) (three T, one G; between FGB IVS6-10 and -16) and FGG IVS3-2A/G, which are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d744ed3a76a8a9bfaa65d8b770151d
https://pubmed.ncbi.nlm.nih.gov/20580695

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[Functional analysis of heterozygous plasma dysfibrinogens derived from two families of gammaArg275Cys and three families of gammaArg275His, and haplotype analysis for these families]

Autor: Yuka, Kamijyo, Masako, Hirota-Kawadobora, Noriko, Fujihara, Saki, Wakabayashi, Kazuyuki, Matsuda, Kazuyoshi, Yamauchi, Fumiko, Terasawa, Nobuo, Okumura, Takayuki, Honda

Publikováno v: Rinsho byori. The Japanese journal of clinical pathology. 57(7)

We have identified five heterozygous dysfibrinogenemias, two families with variant fibrinogen gammaArg275Cys (CGCTGC; Matsumoto III and Sendai) and three families with gammaArg275His (CGCCAC; Otsu II, Iida, and Shizuoka), from PCR-amplified DNA fragm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::da4af61bf2815af4a7b6c3a666611c74
https://pubmed.ncbi.nlm.nih.gov/19708534

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