Literature DB >> 16787881

Recurrent mutations of factor XI gene in Japanese.

Kaoru Okumura, Mayu Kyotani, Reiko Kawai, Akira Takagi, Takashi Murate, Koji Yamamoto, Junki Takamatsu, Tadashi Matsushita, Hidehiko Saito, Tetsuhito Kojima.   

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Year:  2006        PMID: 16787881     DOI: 10.1532/IJH97.06045

Source DB:  PubMed          Journal:  Int J Hematol        ISSN: 0925-5710            Impact factor:   2.490


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  8 in total

1.  Compound heterozygosity for two novel mutations in a severe factor XI deficiency.

Authors:  Akiko Tsukahara; Takayuki Yamada; Akira Takagi; Takashi Murate; Tadashi Matsushita; Hidehiko Saito; Tetsuhito Kojima
Journal:  Am J Hematol       Date:  2003-08       Impact factor: 10.047

2.  Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

Authors:  R Asakai; D W Chung; O D Ratnoff; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

Review 3.  Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency.

Authors:  Astrid Dossenbach-Glaninger; Pierre Hopmeier
Journal:  Blood Coagul Fibrinolysis       Date:  2005-06       Impact factor: 1.276

4.  The carboxyl-terminal region of protein C is essential for its secretion.

Authors:  A Katsumi; T Kojima; T Senda; T Yamazaki; H Tsukamoto; I Sugiura; S Kobayashi; T Miyata; H Umeyama; H Saito
Journal:  Blood       Date:  1998-05-15       Impact factor: 22.113

5.  Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein.

Authors:  K Fujikawa; D W Chung; L E Hendrickson; E W Davie
Journal:  Biochemistry       Date:  1986-05-06       Impact factor: 3.162

6.  Failure to detect variant (CRM+) plasma thromboplastin antecedent (factor XI) molecules in hereditary plasma thromboplastin antecedent deficiency: a study of 125 patients of several ethnic backgrounds.

Authors:  H Saito; O D Ratnoff; B N Bouma; U Seligsohn
Journal:  J Lab Clin Med       Date:  1985-12

7.  A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA.

Authors:  T Yamazaki; M Hamaguchi; A Katsumi; K Kagami; T Kojima; J Takamatsu; H Saito
Journal:  Thromb Haemost       Date:  1995-08       Impact factor: 5.249

8.  Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

Authors:  Dmitri V Kravtsov; Wenman Wu; Joost C M Meijers; Mao-Fu Sun; Morey A Blinder; Thao P Dang; Hongli Wang; David Gailani
Journal:  Blood       Date:  2004-03-16       Impact factor: 22.113

  8 in total
  2 in total

1.  Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.

Authors:  Akira Takagi; Ryoko Tanaka; Daisuke Nakashima; Yuta Fujimori; Takayuki Yamada; Kaoru Okumura; Takashi Murate; Midori Yamada; Yasuo Horikoshi; Koji Yamamoto; Akira Katsumi; Tadashi Matsushita; Tomoki Naoe; Tetsuhito Kojima
Journal:  Int J Hematol       Date:  2009-04-17       Impact factor: 2.490

2.  Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

Authors:  Seung Jun Choi; Juwon Kim; Kyung-A Lee; Jong Rak Choi; Jongha Yoo
Journal:  Ann Lab Med       Date:  2014-06-19       Impact factor: 3.464

  2 in total

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