Identification of Disease-associated Genes for Cardiovascular Diseases

2004 Fiscal Year Final Research Report Summary

• Project/Area Number: 12204004
• Research Category: Grant-in-Aid for Scientific Research on Priority Areas
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Medical Research Institute, Tokyo Medical and Dental University
• Principal Investigator: KIMURA Akinori Tokyo Medical and Dental University, Medical Research Institute, Professor, 難治疾患研究所, 教授 (60161551)
• Co-Investigator(Kenkyū-buntansha): IZUMI Toru Kitasato University, Faculty of Medicine, Professor, 医学部, 教授 (80143775) ; YASUAMI Michio Tokyo Medical University, School of Biomedical Sciences, Associated Professor, 大学院疾患生命科学研究部, 助教授 (80244127)
• Project Period (FY): 2000 – 2004
• Keywords: gene mutation / hypertensive cardiomyopathy / arrhythmia / heart failure / myocardial infarction / microsatellite / Intractable arteritis / idiopathic cardiomyopathy

Research Abstract

Myocardial infarction: We found significant associations of myocardial infarction with polymorphisms in SELE, PECAM1 and CD14. It also was revealed that the disease-associated SELE allele lead higher binding between leukocytes and vascular endothelial cells. In contrast no association was found for the reported polymorphisms in LTA, LGALS2 and p22phox genes via the analysis of more than 500 patients and 500 controls. On the other hand, we could identify five novel disease-related loci for myocardial infarction via the analysis of 18,800 microsatellite markers.
Cardiomyopathy: Gene-Chip analysis of hypertrophied hearts and failing hearts from Dahl salt-sensitive hypertensive rats enabled us to identify 258 genes showing increased or decreased expression in association with hypertensive cardiomyopathy. By analyzing human orthologues of these genes we identified a BMP10 variant associated with hypertensive dilated cardiomyopathy. Biochemical and cell biological analyses revealed that BMP10 localized in Z-disc and bound Tcap. The BMP10 variant reduced the binding to Tcap and augmented extracellular secretion of BMP10. In addition, candidate gene approaches have revealed two novel disease genes for hypertrophic cardiomyopathy and four disease genes for dilated cardiomyopathy.
Arrhythmia: In this study, we have identified many disease-associated mutations in cardiac channel genes and revealed functional changes caused by the mutations. In addition, an HCN4 mutation was revealed to be a novel disease gene for ventricular arrhythmia since a disease-linked mutation showed dominant loss-of-function of HCN4 channel.
Vasculitis: We have investigated polymorphisms of microsatellite markers and SNPs in the HLA region in patients with Takayasu arteritis or Buerger disease. It was revealed that there were two disease-associated loci for Takayasu arteritis; one was HLA-B and the other was mapped in TNF-MICA region. In contrast, there were at least three disease-associated loci for Buerger disease; first was HLA-DPB1, second was HLA-DRB1, and third was mapped near the HLA-E gene.

Research Products

• [Journal Article] Association of clinical features with HLA in chronic pulmonary thromboembolism in Japan (2005)
  • Author(s): Tanabe N, Kimura A, Amano S, Okada O, Kasahara Y, Tatsumi K, Takahashi M, Shibata H, Yasunami M, Kuriyama T
  • Journal Title: Eur Resp J 25 Pages: 131-138
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Association of clinical features with HLA in chronic pulmonary thromboembolism in Japan. (2005)
  • Author(s): Tanabe N, Kimura A, Amano S, Okada O, Kasahara Y, T atsumi K, Takahashi M, Shibata H, Yasunami M, Kuriyama T
  • Journal Title: Eur Resp J 25 Pages: 131-138
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification and functional analysis of a caveolon-3 mutation associated with familial hypertrophic cardiomyopathy (2004)
  • Author(s): Hayashi T, Arimura T, Ueda, K, Shibata H, Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A
  • Journal Title: Biochem Biophys Res Commun 313 Pages: 178-184
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C (2004)
  • Author(s): Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Sibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A
  • Journal Title: J Biol Chem 279 Pages: 6746-6752
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] 17-year follow-up study of a patient with obstructive hypertrophic cardiomyopathy with a deletion mutation in the cardiac myosin binding protein C gene (2004)
  • Author(s): Ogimoto A, Hamada M, Nakura J, Shigematsu Y, Hara Y, Ohtsuka T, Morishima A, Kimura A, Miki T, Hiwada K
  • Journal Title: Circ J 68 Pages: 174-177
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] IKBL promoter polymorphism is strongly associated with resistance to type 1 diabetes in Japanese (2004)
  • Author(s): Yamashita T, Hamaguchi K, Kusuda Y, Kimura A, Sakata T, Yoshimatsu H
  • Journal Title: Tissue Antigens 63 Pages: 223-230
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] The role of a common TNNT2 polymorphism in cardiac hypertrophy (2004)
  • Author(s): Komamura K, Iwai N, Kokame K, Yasumura Y, Kim J, Yamagishi M, Morisaki T, Kimura A, Tomoike H, Kitakaze M, Miyatake K
  • Journal Title: J Hum Genet 49 Pages: 129-133
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia (2004)
  • Author(s): Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesata Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A
  • Journal Title: J Biol Chem 279 Pages: 27194-27198
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Unexpected mexiletine responses of a mutant cardiac Na^+ channel implicate the selectivity filter as a structural determinant of antiarrhythmic drug access (2004)
  • Author(s): Sasaki K, Makita N, Sunami A, Sakurada H, Shirai N, Yokoi H, Kimura A, Tohse N, Hiraoka M, Kitabatake A
  • Journal Title: Mol Pharmacol 66 Pages: 330-336
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking (2004)
  • Author(s): Aizawa Y, Ueda K, Wu LM, Inagaki N, Hayashi T, Takahashi M, Ohta M, Kawano S, Hirano Y, Yasunami M, Aizawa Y, Kimura A, Hiraoka M
  • Journal Title: FEBS Lett 574 Pages: 145-150
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2 : additional amino acids generated by frameshift cause accelerated inactivation (2004)
  • Author(s): Sasano T, Ueda K, Orikabe M, Hirano Y, Kawano S, Yasunami M, Isobe M, Kimura A, Hiraoka M
  • Journal Title: J Mol Cell Cardiol 37 Pages: 1205-1211
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] TCAP mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy (2004)
  • Author(s): Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki, N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Cho BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
  • Journal Title: J Am. Col Cardiol 44 Pages: 2192-2201
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Identification and functional analysis of a caveolon-3 mutation associated with familial hypertrophic cardiomyopathy. (2004)
  • Author(s): Hayashi T, Arimura T, Ueda, K, Shibata H, Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A
  • Journal Title: Biochem Biophys Res Commun 313 Pages: 178-184
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. (2004)
  • Author(s): Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Sibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A
  • Journal Title: J Biol Chem 279 Pages: 6746-6752
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] 17-year follow-up study of a patient with obstructive hypertrophic cardiomyopathy with a deletion mutation in the cardiac myosin binding protein C gene. (2004)
  • Author(s): Ogimoto A, Hamada M, Nakura J, Shigematsu Y, Hara Y, Ohtsuka T, Morishima A, Kimura A, Miki T, Hiwada K
  • Journal Title: Circ J 68 Pages: 174-177
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] IKBL promoter polymorphism is strongly associated with resistance to type 1 diabetes in Japanese. (2004)
  • Author(s): Yamashita T, Hamaguchi K, Kusuda Y, Kimura A, Sakata T, Yoshimatsu H
  • Journal Title: Tissue Antigens 63 Pages: 223-230
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] The role of a common TNNT2 polymorphism in cardiac hypertrophy. (2004)
  • Author(s): Komamura K, Iwai N, Kokame K, Yasumura Y, Kim J, Yamagishi M, Morisaki T, Kimura A, Tomoike H, Kitakaze M, Miyatake K
  • Journal Title: J Hum Genet 49 Pages: 129-133
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. (2004)
  • Author(s): Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesata Y, Hirano Y, YasunamiM, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A
  • Journal Title: J Biol Chem 279 Pages: 27194-27198
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Clinical and genetic characteristics of GAD-antibody positive patients initially diagnosed as having type 2 diabetes. (2004)
  • Author(s): Hamaguchi K, Kimura A, Kusuda Y, Yamashita T, Yasunami M, Takahashi M, Abe N, Yoshimatsu H
  • Journal Title: Diabet. Res. Clin. Pract. 66 Pages: 163-171
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Unexpected mexiletine responses of a mutant cardiac Na+ channel implicate the selectivity filter as a structural determinant of antiarrhythmic drug access. (2004)
  • Author(s): Sasaki K, Makita N, Sunami A, Sakurada H, Shirai N, Yokoi H, Kimura A, Tohse N, Hiraoka M, Kitabatake A
  • Journal Title: Mol Pharmacol 66 Pages: 330-336
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Truncated KCNQ1 mutant, A178fs/105,forms hetero-multimer channel with wild-type causing adominant-negative suppression due to trafficking. (2004)
  • Author(s): Aizawa Y, Ueda K, Wu LM, Inagaki N, Hayashi T, Takahashi M, Ohta M, Kawano S, Hirano Y, Yasunami M, Aizawa Y, Kimura A, Hiraoka M
  • Journal Title: FEBS Lett 574 Pages: 145-150
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Novel C-terminus frameshift mutation, 1122fs/147, of HERG in LQT2 : additional amino acids generated by frameshift cause accelerated inactivation. (2004)
  • Author(s): Sasano T, Ueda K, Orikabe M, Hirano Y, Kawano S, YasunamiM Isobe M, Kimura A, Hiraoka M
  • Journal Title: J Mol Cell Cardiol 37 Pages: 1205-1211
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] TCAP mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. (2004)
  • Author(s): Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki, N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Cho BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
  • Journal Title: J Am. Col Cardiol 44 Pages: 2192-2201
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification of IkBL as the second MHC-linked susceptibility locus for Rheumatoid Arthritis (2003)
  • Author(s): Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H
  • Journal Title: Am J Hum Genet 72 Pages: 303-312
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Association study of the CD 14 polymorphism with myocardial infarction in Japanese populations (2003)
  • Author(s): Hohda S, Kimura A, Sasaoka T, Hayashi T, Ueda K, Yasunami M, Okabe M, Fukuda N, Kurosawa T, Izumi T
  • Journal Title: Jpn Heart J 44 Pages: 613-622
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] E-selectin polymorphism associated with myocardial infarction causes enhanced leukocyte-endothelial interactions under physiological flow conditions (2003)
  • Author(s): Yoshida M, Takano Y, Sasaoka T, Izumi T, Kimura A
  • Journal Title: Arter Thrombo Vasc Biol 23 Pages: 783-788
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Analysis of HLA-B polymorphism in insulin dependent diabetes mellitus in Japanese. (2003)
  • Author(s): Shao W, Yasunami M, Takahashi M, Shibata H, Hamaguchi K, Sakata T, Ota M, Katsuyama Y, Inoko H, Kimura A
  • Journal Title: MHC 9 Pages: 163-169
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification of IkBL as the second MHC-linked susceptibility locus for Rheumatoid Arthritis. (2003)
  • Author(s): Okamoto K, Makino S, Yoshikawa Y, Takaki A, Nagatsuka Y, Ota M, Tamiya G, Kimura A, Bahram S, Inoko H
  • Journal Title: Am J Hum Genet 72 Pages: 303-312
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Association study of the CD14 polymorphism with myocardial infarction in Japanese populations. (2003)
  • Author(s): Hohda S, Kimura A, Sasaoka T, Hayashi T, Ueda K, Yasunami M, Okabe M, Fukuda N, Kurosawa T, Izumi T
  • Journal Title: Jpn Heart J 44 Pages: 613-622
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] E-selectin polymorphism associated with myocardial infarction causes enhanced leukocyte-endothelial interactions under physiological flow conditions. (2003)
  • Author(s): Yoshida M, Takano Y, Sasaoka T, Izumi T, Kimura A
  • Journal Title: Arter Thrombo Vasc Biol 23 Pages: 783-788
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Titin mutations as the molecular basis for dilated cardiomyopathy (2002)
  • Author(s): Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Ueda K, Hohta S, Nouchi T, Takahashi M, Hiroe M, Marumo F, Imaizumi T, Yasunami M, Kimura A
  • Journal Title: Biochem Biophys Res Commun 291 Pages: 385-393
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease (2002)
  • Author(s): Shirai N, Makita N, Sasaki K, Yokoi H, Sakuma I, Sakurada H, Akai J, Kimura A, Hiraoka M, Kitabatake A
  • Journal Title: Cardiovasc Res 53 Pages: 348-354
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Analysis of HLA in children with gelatin allergy (2002)
  • Author(s): Sakaguchi M, Nakayama T, Kaku H, Taniguchi K, Saito S, Kimura A, Inoue S
  • Journal Title: Tissue Antigens 59 Pages: 412-416
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene (2002)
  • Author(s): Harada H, Kimura A, Fukino K, Yasunaga S, Nishi H, Emi M
  • Journal Title: J Hum Genet 47 Pages: 330-332
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy (2002)
  • Author(s): Knoll R, Hoshijima M, Hoffmann HM, Person V, Lorenzen-Schmidt I, Bang M-L, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork J, Jeffrey H, Omens J, Andrew D, McCulloch A, Kimura A, Gregorio CC, Poller W, Schaper J, Schulthelss HP, Chien KR
  • Journal Title: Cell 111 Pages: 943-955
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Analysis of the major epitope of the alpha 2 chain of bovine type I collagen in children with bovine gelatin allergy (2002)
  • Author(s): Hori H, Hattori S, Inouye S, Kimura A, Irie S, Miyazawa H, Sakaguchi M
  • Journal Title: J Allergy Clin Immunol 110 Pages: 652-658
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Analysis of HLA-B polymorphism in insulin dependent diabetes mellitus in Japanese (2002)
  • Author(s): Shao W, Yasunami M, Takahashi M, Shibata H, Hamaguchi K, Sakata T, Ota M, Katsuyama Y, Inoko H, Kimura A
  • Journal Title: MHC 9 Pages: 163-169
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Titin mutations as the molecular basis for dilated cardiomyopathy. (2002)
  • Author(s): Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Ueda K, Hohta S, Nouchi T, Takahashi M, Hiroe M, Marumo F, Imaizumi T, Yasunami M, Kimura A
  • Journal Title: Biochem Biophys Res Commun 291 Pages: 385-393
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. (2002)
  • Author(s): Shirai N, Makita N, Sasaki K, Yokoi H, Sakuma I, Sakurada H, Akai J, Kimura A, Hiraoka M, Kitabatake A
  • Journal Title: Cardiovasc Res 53 Pages: 348-354
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Analysis of HLA in children with gelatine allergy. (2002)
  • Author(s): Sakaguchi M, Nakayama T, Kaku H, Taniguchi K, Saito S, Kimura A, Inoue S
  • Journal Title: Tissue Antigens 59 Pages: 412-416
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene. (2002)
  • Author(s): Harada H, Kimura A, Fukino K, Yasunaga S, Nishi H, Emi M
  • Journal Title: J Hum Genet 47 Pages: 330-332
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Clinical significance of T-wave alternans in hypertrophic cardiomyopathy. (2002)
  • Author(s): Kuroda N, Ohnishi Y, Kimura A, Yokoyama M
  • Journal Title: Circ J 66 Pages: 457-462
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. (2002)
  • Author(s): Knoll R, Hoshijima M, Hoffmann HM, Person V, Lorenzen-Schmidt I, Bang M-L, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork J, Jeffrey H, Omens J, Andrew D, McCulloch A, Kimura A, Gregorio CC, Poller W, Schaper J, Schulthelss HP, Chien KR
  • Journal Title: Cell 111 Pages: 943-955
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Analysis of the major epitope of the alpha 2 chain of bovine type I collagen in children with bovine gelatine allergy. (2002)
  • Author(s): Hori H, Hattori S, Inouye S, Kimura A, Irie S, Miyazawa H, Sakaguchi M
  • Journal Title: J Allergy Clin Immunol 110 Pages: 652-658
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification, characterization and functional analysis of heart-specific myosin light chain phosphatase small subunit (2001)
  • Author(s): Arimura T, Suematsu N, Zhou YB, Nishimura J, Satoh S, Takeshita A, Kanaide H, Kimura A
  • Journal Title: J Biol Chem. 276 Pages: 6073-6082
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] A second susceptibility gene for developing rheumatoid arthritis in the human MHC is located within a 70 kb interval telomeric of the TNF genes in the HLA class III region (2001)
  • Author(s): Ota M, Katsuyama Y, Kimura A, Tsuchiya K, Kondo M, Naruse T, Itoh K, Sasazuki T, Inoko H
  • Journal Title: Genomics 71 Pages: 263-270
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Identification of MICA alleles with a long Leu-repeat in the transmembrane region and no cytoplasmic tail due to a frameshift deletion in exon 4 (2001)
  • Author(s): Obuchi N, Takahashi M, Nouchi T, Satoh M, Arimura T, Ueda K, Akai J, Ota M, Naruse T, Inoko H, Numano F, Kimura A
  • Journal Title: Tissue Antigens 57 Pages: 520-535
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, are associated with myocardial infarction in Japanese (2001)
  • Author(s): Sasaoka T, Kimura A, Hohta S, Fukuda N, Kurosawa T, Izumi T
  • Journal Title: Ann NY Acad Sci 947 Pages: 259-269
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. (2001)
  • Author(s): Takahashi M, Hashimoto H, Akizuki M, Sasazuki T, Nishikimi N, Ouchi H, Kobayashi Y, Numano F, Kimura A
  • Journal Title: Tissue Antigens 57 Pages: 66-69
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification, characterization and functional analysis of heart-specific myosin light chain phosphatase small subunit. (2001)
  • Author(s): Arimura T, Suematsu N, Zhou YB, Nishimura J, Satoh S, Takeshita A, Kanaide H, Kimura A
  • Journal Title: J Biol Chem. 276 Pages: 6073-6082
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] A second susceptibility gene for developing rheumatoid arthritis in the human MHC is located within a 70 kb interval telomeric of the TNF genes in the HLA class III region. (2001)
  • Author(s): Ota M, Katsuyama Y, Kimura A, Tsuchiya K, Kondo M, Naruse T, Itoh K, Sasazuki T, Inoko H
  • Journal Title: Genomics 71 Pages: 263-270
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification of MICA alleles with a long Leu-repeat in the transmembrane region and no cytoplasmic tail due to a frameshift deletion in exon 4. (2001)
  • Author(s): Obuchi N, Takahashi M, Nouchi T, Satoh M, Arimura T, Ueda K, Akai J, Ota M, Naruse T, Inoko H, Numano F, Kimura A
  • Journal Title: Tissue Antigens 57 Pages: 520-535
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, are associated with myocardial infarction in Japanese. (2001)
  • Author(s): Sasaoka T, Kimura A, Hohta S, Fukuda N, Kurosawa T, Izumi T
  • Journal Title: Ann NY Acad Sci 947 Pages: 259-269
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Mapping of the HLA-linked genes controlling the susceptibility to Takayasu's arteritis (2000)
  • Author(s): Kimura A, Ota M, Katsuyama Y, Ohbuchi N, Takahashi M, Kobayashi Y, Inoko H, Numano F
  • Journal Title: Int J Cardiol 75 Pages: 105-110
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Analysis of the topological properties of the two dinucleotide repeat regions that enhance the transcriptional activity of the human type 1 collagen alpha2 chain (COL1A2) gene promoter (2000)
  • Author(s): Akai J, Kimura A, Hata R
  • Journal Title: Connective Tissue 32 Pages: 259-265
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Characterization of human nebulette gene : A polymorphism in an actin-binding motif is associated with non-familial idiopathic dilated cardiomyopathy (2000)
  • Author(s): Arimura T, Nakamura T, Hiroi S, Satoh M, Takahashi M, Ohbuchi N, Ueda K, Nouchi T, Yamaguchi N, Akai J, Matsumori A, Sasayama S, Kimura A
  • Journal Title: Hum Genet 107 Pages: 440-451
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese (2000)
  • Author(s): Takahashi M, Hashimoto H, Akizuki M, Sasazuki T, Nishikimi N, Ouchi H, Kobayashi Y, Numano F, Kimura A
  • Journal Title: Tissue Antigens 57 Pages: 66-69
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Mapping of the HLA-linked genes controlling the susceptibility to Takayasu's arteritis. (2000)
  • Author(s): Kimura A, Ota M, Katsuyama Y, Ohbuchi N, Takahashi M, Kobayashi Y, Inoko H, Numano F
  • Journal Title: Int J Cardiol 75 Pages: 105-110
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Analysis of the topological properties of the two dinucleotide repeat regions that enhance the transcriptional activity of the human type 1 collagen alpha 2 chain (COL1A2) gene promoter. (2000)
  • Author(s): Akai J, Kimura A, Hata R
  • Journal Title: Connective Tissue 32 Pages: 259-265
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Characterization of human nebulette gene : A polymorphism in an actin-binding motif is associated with non-familial idiopathic dilated cardiomyopathy. (2000)
  • Author(s): Arimura T, Nakamura T, Hiroi S, Satoh M, Takahashi M, Ohbuchi N, Ueda K, Nouchi T, Yamaguchi N, Akai J, Matsumori A, Sasayama S, Kimura A
  • Journal Title: Hum Genet 107 Pages: 440-451
  • Description: 「研究成果報告書概要(欧文)」より
• [Patent(Industrial Property Rights)] 変異型HCN4遺伝子 (2003)
  • Inventor(s): 木村彰方, 上田和雄
  • Industrial Property Number: 特願2003-050469
  • Filing Date: 2003-02-27
  • Description: 「研究成果報告書概要(和文)」より
• [Patent(Industrial Property Rights)] I型糖尿病の検査方法 (2001)
  • Inventor(s): 木村彰方, 柴田宏樹, 安波道郎
  • Industrial Property Number: 特願2001-306868
  • Filing Date: 2001-10-02
  • Description: 「研究成果報告書概要(和文)」より