Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Machiko Wakiyama"'
Autor:
Miyuki Ono, Sumiko Inoue, Hiroko Iida, Naotaka Hamasaki, Machiko Wakiyama, Kumiko Watanabe, Yui Wada, Sachiko Kinoshita, Masako Kurihara
Publikováno v:
Thrombosis Research. 115:351-358
We investigated the molecular basis of reduced functional levels of antithrombin (AT) in two individuals suffering from thromboembolic events. In each case direct sequencing of amplified DNA revealed 13,260-13,262 del in one patient and 2511C>A in th
Autor:
Sachiko Kinoshita, Atsushi Shibuya, Eiichi Ishii, Kumiko Watanabe, Sumiko Inoue, Hiroko Iida, Naotaka Hamasaki, Kenji Muraoka, Machiko Wakiyama, Masafumi Zaitsu, Masako Kurihara, Yui Wada, Miyuki Ono
Publikováno v:
British Journal of Haematology. 120:101-108
Afibrinogenaemia usually induces a bleeding tendency during infancy, whereas protein C deficiency increases susceptibility to thrombosis in children or adolescence. Mutations of these genes have been, therefore, established as independent risk factor
Autor:
Sachiko Kinoshita, Hiroko Iida, Tomohide Tsuda, Machiko Wakiyama, Naotaka Hamasaki, Michiyo Urata, Hiroko Tsuda, Mutsuko Nakahara
Publikováno v:
Thrombosis Research. 105:233-239
Four missense mutations, G54R, T589I, K155E, and Y595C, were identified in the protein S (PS) gene of the patients with PS deficiency and venous thrombosis. Three patients were heterozygous for the novel mutations, G54R, T589I, and Y595C, while a rem
Autor:
Eiichi Ishii, Naotaka Hamasaki, Mutsuko Nakahara, Hiroko Iida, Kenji Ihara, Machiko Wakiyama, Michiyo Urata, Sachiko Kinoshita, Takeshi Kai, Kumiko Watanabe, Masako Kurihara
Publikováno v:
Thrombosis and Haemostasis. 84:49-53
SummaryCongenital afibrinogenemia due to a novel homozygous nonsense mutation of the fibrinogen γ-chain gene, fibrinogen Hakata, was found in an 18-year-old Japanese girl who had received supplemental fibrinogen therapy since she was 4 months old. T
Autor:
Naotaka Hamasaki, Dongchon Kang, Sachiko Kinoshita, Michiyo Urata, Masanori Iwase, Machiko Wakiyama, Makoto Yoneda
Publikováno v:
Clinical Chemistry. 44:2088-2093
An adenine-to-guanine mutation at nucleotide position (np) 3243 in the mitochondrial tRNALeu(UUR) gene is closely associated with various clinical phenotypes of diabetes mellitus. Because the mutation creates a new restriction site for the restrictio
Autor:
Kumiko, Watanabe, Atsushi, Shibuya, Eiichi, Ishii, Masako, Kurihara, Sumiko, Inoue, Miyuki, Ono, Yui, Wada, Machiko, Wakiyama, Masafumi, Zaitsu, Hiroko, Iida, Kenji, Muraoka, Sachiko, Kinoshita, Naotaka, Hamasaki
Publikováno v:
British journal of haematology. 120(1)
Afibrinogenaemia usually induces a bleeding tendency during infancy, whereas protein C deficiency increases susceptibility to thrombosis in children or adolescence. Mutations of these genes have been, therefore, established as independent risk factor
Autor:
Hiroko, Tsuda, Michiyo, Urata, Tomohide, Tsuda, Machiko, Wakiyama, Hiroko, Iida, Mutsuko, Nakahara, Sachiko, Kinoshita, Naotaka, Hamasaki
Publikováno v:
Thrombosis research. 105(3)
Four missense mutations, G54R, T589I, K155E, and Y595C, were identified in the protein S (PS) gene of the patients with PS deficiency and venous thrombosis. Three patients were heterozygous for the novel mutations, G54R, T589I, and Y595C, while a rem
Autor:
Naotaka Hamasaki, Mutsuko Nakahara, Hiroko Iida, Sachiko Kinoshita, Machiko Wakiyama, Keizo Sugimachi, Masako Fujise, Michiyo Urata, Kimihiro Komori, Hiroko Tsuda
Publikováno v:
Thrombosis research. 102(3)
A 29-year-old male patient with acute arterial obstruction and a medical history including thrombosis in the deep veins and pulmonary infarction presented with a reduced level of both protein S (PS) activity and free PS. Sequencing of the genomic PS
Autor:
Naotaka Hamasaki, Masako Fujise, Hiroko Iida, Machiko Wakiyama, Mutsuko Nakahara, Takashi Okamura, Tsuneyoshi Yao, Kenshi Yao, Sachiko Kinoshita, Hiroko Tsuda, Michiyo Urata
Publikováno v:
Thrombosis research. 101(5)
Sequencing studies of the protein S gene (PROS1) in a Japanese patient suffering from recurrent thrombosis revealed the following. The proband and his first daughter, but not the second daughter, were having the type I protein S (PS) deficiency due t
Autor:
Hiroko Iida, Machiko Wakiyama, Misumoto T, Nakashima K, Imoto Y, Seo S, Yano J, Shinohara K, Hosaka N, Ono J, Imamura K, Urabe Y, Tsuchihashi M, Abe T, Nakata M, Ikeda K, Hyoudou K, Ishihara H, Sachiko Kinoshita, Mutsuko Nakahara, Mitsuko Toyofuku, Kondo S, Masako Kurihara, Kobayashi T, Jinnouchi J, Kawashima H, Ooishi K, Naotaka Hamasaki
Publikováno v:
Clinical Chemistry and Laboratory Medicine. 39
Standardization of 22 clinical chemistry analytes and five serum protein constituents has been performed in the Fukuoka Prefecture, which has a population of approximately five million. The standardization project was established to determine referen