Výsledky vyhledávání - "Tomio Yamazaki"

A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S

Autor: Motohiro Hamaguchi, Hiromi Okada, Hidehiko Saito, Shinji Kunishima, Koji Yamamoto, Tetsuhito Kojima, Junki Takamatsu, Tadashi Matsushita, Tomio Yamazaki, Akira Takagi

Publikováno v: Thrombosis Research. 125:e246-e250

Protein S (PS) is a member of the vitamin K-dependent protein family containing similar γ-carboxyglutamic acid (Gla) domains, although only PS has a thrombin-sensitive region (TSR), which is located between the Gla domain and the first epidermal gro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cd2a4cf1c2498ba26226fa6e63390
https://doi.org/10.1016/j.thromres.2009.11.029

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Identification of protein Sα gene mutations including four novel mutations in eight unrelated patients with protein S deficiency

Autor: Tadashi Matsushita, Akira Yoshioka, Tetsuhito Kojima, Koji Yamamoto, Junki Takamatsu, Mitsuhiko Sugimoto, Kanji Sugita, Takashi Murate, Akira Takagi, Hidehiko Saito, Tatsuya Adachi, Hiromi Okada, Tomio Yamazaki

Publikováno v: British Journal of Haematology. 126:219-225

Summary Eight distinct and potentially causative mutations were identified in eight unrelated Japanese patients with protein S (PS) deficiency, by direct DNA sequencing of the protein Sa (PSa) gene-specific polymerase chain reaction products of all 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0b7ce645a779d6047685ff3ac346be9b
https://doi.org/10.1111/j.1365-2141.2004.05026.x

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Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized

Autor: Mårten Steen, Bruno O. Villoutreix, Björn Dahlbäck, Maria A. Miteva, Tomio Yamazaki

Publikováno v: Blood. 102:1316-1322

Factor V (FV) deficiency, also known as parahemophilia, is a rare bleeding disorder. Herein we investigate the first reported missense mutation associated with FV deficiency, Ala221Val, assigned as FV New Brunswick. To elucidate the molecular patholo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b48369e4f76cf3a358abdf35f1d9fd7d
https://doi.org/10.1182/blood-2003-01-0116

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Defining the Factor Xa-binding Site on Factor Va by Site-directed Glycosylation

Autor: Eva Norström, Bruno O. Villoutreix, Björn Dahlbäck, Tomio Yamazaki, Mårten Steen

Publikováno v: Journal of Biological Chemistry. 277:50022-50029

Activated Factor V (FVa) functions as a membrane-bound cofactor to the enzyme Factor Xa (FXa) in the conversion of prothrombin to thrombin, increasing the catalytic efficiency of FXa by several orders of magnitude. To map regions on FVa that are impo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b952f0152f6031bff5b188fddf6754
https://doi.org/10.1074/jbc.m205609200

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Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype

Autor: Gerry A. F. Nicolaes, Björn Dahlbäck, Kristoffer W. Sørensen, Tomio Yamazaki

Publikováno v: Blood. 100:2515-2521

To investigate the molecular mechanisms of the quantitative factor V (FV) deficiency associated with the FV R2 haplotype, 4 missense mutations, Met385Thr, His1299Arg, Met1736Val, and Asp2194Gly, identified in the R2 haplotype allele, were analyzed by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b13a20a540893f2a52eef37dc9592d16
https://doi.org/10.1182/blood.v100.7.2515

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Structural Requirements of Anticoagulant Protein S for Its Binding to the Complement Regulator C4b-binding Protein

Autor: Pablo García de Frutos, Bruno O. Villoutreix, Sara Linse, Tomio Yamazaki, Björn Dahlbäck, Tusar Giri

Publikováno v: Journal of Biological Chemistry. 277:15099-15106

The vitamin K-dependent anticoagulant protein S binds with high affinity to C4b-binding protein (C4BP), a regulator of complement. Despite the physiological importance of the complex, we have only a patchy view of the C4BP-binding site in protein S.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36dac85600dd6a69f47584c6496340f1
https://doi.org/10.1074/jbc.m103036200

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Severe Factor VII Deficiency Caused by a Novel Mutation His348 to Gln in the Catalytic Domain

Autor: Hidehiko Saito, Tomio Yamazaki, Tetsuhito Kojima, Isamu Sugiura, Akira Katsumi, Tadashi Matsushita

Publikováno v: Thrombosis and Haemostasis. 83:239-243

SummaryFactor VII is a vitamin K-dependent zymogen that plays a key role in the initiation of the extrinsic pathway. A severe factor VII deficiency was identified in a 45-year old male whose plasma factor VII antigen was less than 60 ng/ml and expres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd50afdcf5ad4f7d4330c579e62cf192
https://doi.org/10.1055/s-0037-1613793

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Common Mutation of Plasminogen Detected in Three Asian Populations by an Amplification Refractory Mutation System and Rapid Automated Capillary Electrophoresis

Autor: Sang-Chul Park, Akitada Ichinose, Hideo Hamaguchi, Asako Ooe, Tomio Yamazaki, Masafumi Kida, Antonio Girolami

Publikováno v: Thrombosis and Haemostasis. 82:1342-1346

SummaryCongenital deficiency and dysfunction of plasminogen (PLG) are associated with a mild thrombotic tendency. To facilitate the genetic diagnosis of dysPLGemia, we combined an amplification refractory mutation system and rapid automated capillary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c9751428a6bd8d650c9fe2202d69f1
https://doi.org/10.1055/s-0037-1614387

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Arg260‐Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics

Autor: Hiroaki Tsukamoto, Tomonori Izumi, Masaki Togashi, Junki Takamatsu, Hideaki Umeyama, Tomio Yamazaki, Akitada Ichinose, Hidehiko Saito

Publikováno v: British Journal of Haematology. 101:264-272

To explore the implications of the structure/ function relationships in factor XIII. a patient with severe A subunit deficiency was examined at the DNA and RNA levels. Nucleotide sequence analysis of the patient's DNA amplified by PCR revealed that t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc925a261176929b8af38f19fd469f8
https://doi.org/10.1046/j.1365-2141.1998.00698.x

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