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Three distinct candidate point mutatations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease 査読有り

"Sugiura, I., Matsushita, T., Tanimoto, M., Takahashi, I., Yamazaki, T., Yamamoto, K., Takamatsu, J., Kamiya, T. and Saito, H."

Thromb. Haemost. 67 巻 ( 6 ) 頁： 612-617 1992年

Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and celluler basis for hereditary protein C deficiency. 査読有り

"Yamamoto, K., Tanimoto, M., Emi, N., Matsushita, T., Takamatsu, J. and Saito, H."

J. Clin. Invest. 90 巻頁： 2439-2446 1992年

Construction and its expression of a new retroviral vector containing a human blood coagulation factor IX cDNA 査読有り

"Matsushita, T., Emi, N., Takahashi, I., Takamatsu, J. and Saito, H."

Thromb. Res. 69 巻頁： 387-393 1993年

A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene 査読有り

"Yamazaki, T., Sugiura, I., Matsushita, T., Kojima, T., Kagami, K., Takamtsu, J. and Saito, H."

Thromb. Res 70 巻頁： 395-403 1993年

*Impaired human tissue factor-mediated activity in blood clotting factor VIINagoya (Arg304 -> Trp). Evidence that a region in the catalytic domain of factor VII is important for the association with tissue factor) 査読有り

"Matsushita, T., Kojima, T., Emi, N., Takahashi, I. and Saito, H."

J. Biol. Chem. 269 巻 ( 10 ) 頁： 7355-7363 1994年

von Willebrand's factor and von Willebrand's diesease 査読有り

"Matsushita, T., Dong, Z. and Sadler, J. E."

Current Opinion in Hematology 1 巻頁： 362-368 1994年

*Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to-alanine scanning mutagenesis of the A1 domain of human von willebrand factor. 査読有り

"Matsushita, T. and Sadler, J."

J. Biol. Chem. 270 巻 ( 22 ) 頁： 13406-13414 1995年

Molecular mechanism and classification of von Willebrand disease 査読有り

"Sadler, J. E., Matsushita, T., Dong, Z., Tuley, E. and Westfield, L. A."

Thromb. Haemost. 74 巻 ( 1 ) 頁： 161-166 1995年

Diagnosis of hemophilia B carriers using two novel dinucleotide polymorphisms and Hha I RFLP of the factor IX gene in Japanese subjects 査読有り

"Toyozumi, H., Kojima, T., Matsushita, T., Hamaguchi, M., Tanimoto, M. and Saito, H."

Thrombosis & Haemostasis 74 巻 ( 4 ) 頁： 1009-1014 1995年

記述言語：英語掲載種別：研究論文（学術雑誌）

"We identified two novel dinucleotide polymorphisms in intron A at nucleotide 192 (FIX192) and in the 5' flanking region at nucleotide -793 (FIX-793) of the factor IX gene, which are present in normal Japanese. The Hha I restriction fragment length polymorphism (FIX-HhaI) located 8 kb 3' to the factor IX gene was also found to be an efficient marker for detecting carriers in a Japanese family with hemophilia B. Each of these polymorphisms was able to be rapidly ascertained by the polymerase chain reaction (PCR) technique. In 22 Japanese families with hemophilia B, 18 families (81.8%) were heterozygous for at least one of these polymorphisms, whereas 11 (50%) were informative for the extragenic DXS99/Sac I RFLP which was previously reported as a useful gene marker for Japanese hemophilia B. Using all 4 polymorphisms together, the informative rate improved to 86.4%. Carrier detection and, possibly, the prenatal diagnosis of hemophilia B can be achieved effectively and rapidly in Japanese with these polymorphisms."

Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. 査読有り

"Eikenboom, J. C. J., Matsushita, T., Reitsma, P. H., Tuley, E. A., Castman, G., Briテゥt, E. and Sadler, J. E."

Blood 88 巻 ( 7 ) 頁： 2433-2441 1996年

Identification of the five hydrophilic residues (Lys-217, Lys-218, Arg- 359, His-360, and Arg-513) essential for the structure and activity of vitamin K-dependent carboxylase 査読有り

"Shimizu, A., Sugiura, I., Matsushita, T., Kojima, T., Hirai, M. and Saito, H."

Biochem Biophys Res Commun 251 巻 ( 1 ) 頁： 16285-94 1998年

記述言語：英語掲載種別：研究論文（学術雑誌）

"Vitamin K-dependent carboxylase catalyzes the posttranslational conversion of glutamic acid to gamma-carboxyglutamic acid in vitamin K- dependent proteins. The clustered charged-to-alanine scanning mutagenesis of bovine carboxylase has identified five distinct candidate regions (I. Sugiura et al., J. Biol. Chem. 271, 17837-17844, 1996) with significant loss-of-function phenotype. To further specify the residues essential for the structure and function of the enzyme, Lys-217, Lys-218, Arg-359, His-360, Lys-361, Arg-513, and Lys-515 were analyzed by substituting to alanine individually. All the mutants except for K217A were expressed in Chinese hamster ovary cells. The carboxylase activities of R359A, H360A, and R513A decreased in parallel with the vitamin K epoxidase activities. Both carboxylations by R359A and H360A were stimulated saturatively at 1 microM factor IX propeptide (proFIX18) concentration, but that by R513A was not at a concentration up to 128 microM. K218A completely lost the enzyme activities but it cross-linked to the propeptide, suggesting that Lys-218 is critical for enzyme activity without affecting propeptide binding. We conclude that Lys-218, Arg-359, and His-360 are involved in the catalytic event, and Arg-513 participates in propeptide binding. Copyright 1998 Academic Press."

ERGIC-53 Gene Structure and Mutation Analysis in 19 Combined Factors V and VIII Deficiency Families 査読有り

"Nichols, W. C., Terry, V. H., Wheatley, M. A., Yang, A., Zivelin, A., Ciavarella, N., Stefanile, C., Matsushita, T., Saito, H., de Bosch, N. B., Ruiz-Saez, A., Torres, A., Thompson, A. R., Feinstein, D. I., White, G. C., Negrier, C., Vinciguerra, C., Aktan, M., Kaufman, R. J., Ginsburg, D. and Seligsohn, U."

Blood 93 巻 ( 7 ) 頁： 2261-2266 1999年

記述言語：英語掲載種別：研究論文（学術雑誌）

"Combined factors V and VIII deficiency is an autosomal recessive bleeding disorder associated with plasma levels of coagulation factors V and VIII approximately 5% to 30% of normal. The disease gene was recently identified as the endoplasmic reticulum-Golgi intermediate compartment protein ERGIC-53 by positional cloning, with the detection of two founder mutations in 10 Jewish families. To identify mutations in additional families, the structure of the ERGIC-53 gene was determined by genomic polymerase chain reaction (PCR) and sequence analysis of bacterial artificial chromosome clones containing the ERGIC- 53 gene. Nineteen additional families were analyzed by direct sequence analysis of the entire coding region and the intron/exon junctions. Seven novel mutations were identified in 10 families, with one additional family found to harbor one of the two previously described mutations. All of the identified mutations would be predicted to result in complete absence of functional ERGIC-53 protein. In 8 of 19 families, no mutation was identified. Genotyping data indicate that at least two of these families are not linked to the ERGIC-53 locus. Taken together, these results suggest that a significant subset of combined factors V and VIII deficiency is due to mutation in one or more additional genes."

Severe factor VII deficiency caused by a novel mutation His348 to Gln in the catalytic domain 査読有り

"Katsumi, A., Matsushita, T., Yamazaki, T., Sugiura, I., Kojima, T. and Saito, H."

Thromb Haemost 83 巻 ( 2 ) 頁： 239-43 2000年

記述言語：英語掲載種別：研究論文（学術雑誌）

"Factor 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 expressed 5.2% of normal factor VII activity. DNA sequence analysis of the patient's factor VII gene showed a thymidine to guanine transversion at nucleotide 10968 in exon VIII that results in a novel amino acid substitution of His348 to Gln. The patient was homozygous for this mutation, whereas some of his family members were heterozygous. Both wild type and mutant factor VII were transiently expressed in COS-1 cells. The level of secreted mutant factor VII antigen was only 11.0% of the level of wild type factor VII. In CHO cells stably transfected with the mutant factor VII, only 37.3% of the total labeled FVII was secreted into the conditioned media and the remainder was retained inside the cells. These data suggest this mutation leads to factor VII deficiency due to the impaired secretion of the molecule."

Complete antithrombin deficiency in mice results in embryonic lethality 査読有り

"Ishiguro, K., Kojima, T., Kadomatsu, K., Nakayama, Y., Takagi, A., Suzuki, M., Takeda, N., Ito, M., Yamamoto, K., Matsushita, T., Kusugami, K., Muramatsu, T. and Saito, H."

J Clin Invest 106 巻 ( 7 ) 頁： 873-878 2000年

記述言語：英語掲載種別：研究論文（学術雑誌）

"Antithrombin is a plasma protease inhibitor that inhibits thrombin and contributes to the maintenance of blood fluidity. Using targeted gene disruption, we investigated the role of antithrombin in embryogenesis. Mating mice heterozygous for antithrombin gene (ATIII) disruption, ATIII(+/-), yielded the expected Mendelian distribution of genotypes until 14.5 gestational days (gd). However, approximately 70% of the ATIII(-/-) embryos at 15.5 gd and 100% at 16.5 gd had died and showed extensive subcutaneous hemorrhage. Histological examination of those embryos revealed extensive fibrin(ogen) deposition in the myocardium and liver, but not in the brain or lung. Furthermore, no apparent fibrin(ogen) deposition was detected in the extensive hemorrhagic region, suggesting that fibrinogen might be decreased due to consumptive coagulopathy and/or liver dysfunction. These findings suggest that antithrombin is essential for embryonic survival and that it plays an important role in regulation of blood coagulation in the myocardium and liver."

Short report: A case of purpura fulminans is caused by homozygous delta8857 mutation (protein C-nagoya) and successfully treated with activated protein C concentrate 査読有り

"Nakayama, T., Matsushita, T., Hidano, H., Suzuki, C., Hamaguchi, M., Kojima, T. and Saito, H."

Br J Haematol 110 巻 ( 3 ) 頁： 727-30 2000年

記述言語：英語掲載種別：研究論文（学術雑誌）

"We report a Japanese patient who developed purpura fulminans and disseminated intravascular coagulation (DIC) shortly after birth. The patient was diagnosed to be homozygous for protein C deficiency and was treated with an activated protein C (APC) concentrate. Intravenous infusions of APC markedly improved the necrotic skin lesions and the anticoagulation by APC enabled successful DIC control. The identified mutation (Delta8857) results in impaired intracellular transport and protein maturation and would be the cause of the complete protein C deficiency. This is the seventh case of the mutation that has been exclusively reported in Japan, but is the first report of a homozygous case. Our findings propose new therapeutic and diagnostic tools for the management of this fatal thrombotic disease."

Identification of plasma antibody epitopes and gene abnormalities in Japanese hemophilia A patients with factor VIII inhibitor 査読有り

"Sugihara, T., Takahashi, I., Kojima, T., Okamoto, Y., Yamamoto, K., Kamiya, T., Matsushita, T. and Saito, H."

Nagoya J Med Sci 63 巻頁： 25-39 2000年

記述言語：英語掲載種別：研究論文（学術雑誌）

"Eleven Japanese hemophilia A patients with anti-factor VIII (FVIII) inhibitors were studied to localize both their inhibitory antibody epitopes and their genotypes. The inhibitor epitopes were studied in nine severe hemophilia A patients by means of a scanning method using the oligopeptide panel covering the FVIII polypeptides without the B domain. The 107 15 mer-peptides were synthesized on solid-phase pins and analyzed for their reactivity with diluted patient plasma. As indicated previously, a series of peptides corresponding to the A2 and C2 domains were recognized by plasma antibodies from 2 patients and 4 patients, respectively. In contrast, all the antibodies bound to several epitopes in the A3 domain, while an epitope 1809-1821 covering the putative factor IX binding site was found in 3 patients. Southern blotting analysis showed that 8 out of 11 patients had either gene deletions or inversions of the FVIII gene, indicating a higher proportion of gross gene alterations in inhibitor-positive hemophilia A patients. However, the correlation of gene abnormality type with epitope location was not fully established."

DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects 査読有り

"Iwaki, T., Mastushita, T., Kobayashi, T., Yamamoto, Y., Nomura, Y., Kagami, K., Nakayama, T., Sugiura, I., Kojima, T., Takamatsu, J., Kanayama, N. and Saito, H."

Semin Thromb Hemost 27 巻 ( 2 ) 頁： 155-60 2001年

記述言語：英語掲載種別：研究論文（学術雑誌）

"The molecular basis for the hereditary type I protein S (PS) deficiency was investigated. DNA sequence analysis of 12 patients with PS deficiency in Japan identified four point mutations and three of them were novel. Nonsense mutations found in two unrelated patients resulted in termination of the PS polypeptide chains at Gln 238 and Lys 392, respectively. Two novel missense mutations were also found in two other patients substituting Asp 202 for Asn and Leu 298 for Pro, respectively. Comparison of the PS amino acid sequences from several mammalians indicated that Asp 202 and Leu 298 were preserved and thus appeared to be responsible for the pathogenesis of PS deficiency."

Localization of von willebrand factor-binding sites for platelet glycoprotein Ib and botrocetin by charged-to-alanine scanning mutagenesis 査読有り

Matsushita, T., Meyer, D. and Sadler, J. E.

J Biol Chem 275 巻 ( 15 ) 頁： 11044-9 2000年

記述言語：英語掲載種別：研究論文（学術雑誌）

At sites of vascular injury, von Willebrand factor (VWF) mediates platelet adhesion through binding to platelet glycoprotein Ib (GPIb). Previous studies identified clusters of charged residues within VWF domain A1 that were involved in binding GPIb or botrocetin. The contribution of 28 specific residues within these clusters was analyzed by mutating single amino acids to alanine. Binding to a panel of six conformation-dependent monoclonal antibodies was decreased by mutations at Asp(514), Asp(520), Arg(552), and Arg(611) (numbered from the N- terminal Ser of the mature processed VWF), suggesting that these residues are necessary for domain A1 folding. Binding of (125)I- botrocetin was decreased by mutations at Arg(629), Arg(632), Arg(636), and Lys(667). Ristocetin-induced and botrocetin-induced binding to GPIb both were decreased by mutations at Lys(599), Arg(629), and Arg(632); among this group the K599A mutant was unique because (125)I-botrocetin binding was normal, suggesting that Lys(599) interacts directly with GPIb. Ristocetin and botrocetin actions on VWF were dissociated readily by mutagenesis. Ristocetin-induced binding to GPIb was reduced selectively by substitutions at positions Lys(534), Arg(571), Lys(572), Glu(596), Glu(613), Arg(616), Glu(626), and Lys(642), whereas botrocetin-induced binding to GPIb was decreased selectively by mutations at Arg(636) and Lys(667). The binding of monoclonal antibody B724 involved Lys(660) and Arg(663), and this antibody inhibits (125)I- botrocetin binding to VWF. The crystal structure of the A1 domain suggests that the botrocetin-binding site overlaps the monoclonal antibody B724 epitope on helix 5 and spans helices 4 and 5. The binding of botrocetin also activates the nearby VWF-binding site for GPIb that involves Lys(599) on helix 3.

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome) 査読有り

"Kunishima, S., Kojima, T., Matsushita, T., Tanaka, T., Tsurusawa, M., Furukawa, Y., Nakamura, Y., Okamura, T., Amemiya, N., Nakayama, T., Kamiya, T. and Saito, H."

Blood 97 巻 ( 4 ) 頁： 1147-9. 2001年

記述言語：英語掲載種別：研究論文（学術雑誌）

"Macrothrombocytopenia with leukocyte inclusions is a rare autosomal dominant platelet disorder characterized by a triad of giant platelets, thrombocytopenia, and characteristic Dohle body-like leukocyte inclusions. A previous study mapped a locus for the disease on chromosome 22q12.3-q13.2 by genome-wide linkage analysis. In addition, the complete DNA sequence of human chromosome 22 allowed a positional candidate approach, and results here indicate that the gene encoding nonmuscle myosin heavy chain-A, NMMHC-A, is mutated in this disorder. Mutations were found in 6 of 7 Japanese families studied: 3 missense mutations, a nonsense mutation, and a one-base deletion resulting in a premature termination. Immunofluorescence studies revealed that NMMHC-A distribution in neutrophils appeared to mimic the inclusion bodies. These results provide evidence for the involvement of abnormal NMMHC-A in the formation of leukocyte inclusions and also in platelet morphogenesis."

Cloning and characterization of the murine antithrombin gene 査読有り

"Nakayama, Y., Kojima, T., Takagi, A., Yanada, M., Yamamoto, K., Matsushita, T. and Saito, H."

Thromb Res 100 巻 ( 3 ) 頁： 179-83 2000年

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