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  1. 国立循環器病研究センター オープンイノベーションセンター TOP
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創薬オミックス解析センター

研究について
研究業績

2015-2021年度ORC業績一覧

2021年

  1. Katsuyama T, Kadoya M, Shirai M, Sasai N, Sox14 is essential for initiation of interneuron differentiation in the chick spinal cord. Developmental Dynamics, 2021, in press.
  2. Yamazaki M, Tomi N, Tsuneyama K, Makita N, Tsuji Y. et al. Rotors anchored by refractory islands drive Torsades de Pointes in an experimental model of electrical storm. Heart Rhythm, 2021; in press.
  3. Yoshinaga M, Horigome H, Makita, N., Nagashina M. et al. Maintenance of neural stem-progenitor cells by the lysosomal biosynthesis regulators TFEB and TFE3 in the embryonic mouse telencephalonElectrocardiographic diagnosis of hypertrophic cardiomyopathy at pre- and post-diagnostic phases in children and adolescents. Circulation Journal, 2021; 86: 118-127.
  4. Rabaglino MB, Wakabayashi M, Pearson J. T, Jensen L. J, Effect of age on the vascular proteome in middle cerebral arteries and mesenteric resistance arteries in mice. Mechanisms of Ageing and Development, 2021; 200: 111594.
  5. Min K. D, Asakura M, Shirai M, Takashima S, Masafumi K. et al. ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis. Scientific reports, 2021; 11: 23056.
  6. Kozek K, Wada Y, Makita N, Ishikawa T, Horie M, Kroncke B. M, et al. Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. Circulation: Genomic and Precision Medicine, 2021; 14(4): e003289.
  7. Kobayashi Y, Watanabe S, Chen AOL, Shirai M, Sasai N, Kimura K, et al. Early manifestations and differential gene expression associated with photoreceptor degeneration in Prominin-1-deficient retina. Disease Models & Mechanisms, 2021; 14(11): dmm048962.
  8. Ishikawa T, Kimoto H, Makita N. et al. Functionally-Validated SCN5A Variants Allow Interpretation of Pathogenicity and Prediction of Lethal Events in Brugada Syndrome. European Heart Journal, 2021; 42 (29): 2854-2863.
  9. Seya D, Ihara D, Shirai M, Kawamura T, Watanabe Y, Nakagawa O. A role of Hey2 transcription factor for right ventricle development through regulation of Tbx2-Mycn pathway during cardiac morphogenesis. Development, growth & differentiation, 2021; 63(1): 82-92.
  10. Suzuki H, Horie M, Ozawa J, Sumitomo N, Ohno S, Hoshino K, Ehara E, Takahashi K, Maeda Y, Yoshinaga M, Tateno S, Takagi J, Doi S, Hoshina S, Sato I, Ishikawa T, Makita N, Chinushi M, Akazawa K, Nagashima M. Novel Electrocardiographic Criteria for Short QT Syndrome in Children and Adolescents. Europace, 2021; euab 097.
  11. Yuizumi N, Harada Y, Kuniya T, Sunabori T, Koike M, Wakabayashi M, Ishihama Y, Suzuki Y, Kawaguchi D, Gotoh Y. Maintenance of neural stem-progenitor cells by the lysosomal biosynthesis regulators TFEB and TFE3 in the embryonic mouse telencephalon. Stem Cells, 2021; 39(7): 929-944.
  12. Walsh R, Lahrouchi N, Ishikawa T, Makita N, Bezzina C. R. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med, 2021; 23(1): 47-58.
  13. Masaki T, Okazawa M, Asano R, Inagaki T, Ishibashi T, Yamagishi A, Umeki-Mizushima S. Nishimura M. Manabe Y, Ishibashi-Ueda H, Shirai M, Tsuchimochi H, Pearson J. T, Kumanogoh, A, Sakata Y, Ogo T, Kishimoto T, Nakaoka Y. Aryl hydrocarbon receptor is essential for the pathogenesis of pulmonary arterial hypertension. Proceedings of the National Academy of Sciences, 2021; 118(11): e2023899118.

2020年

  1. Matsushita Y, Nagata H, Ogawa M, Shikada S, Ishikawa T, Makita N. A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing. Journal of Pediatric Genetics, 2020; in press.
  2. Wijeyeratne YD, Barc J, Crotti L, Ishikawa T, Shimizu W, Makita N, Behr ER, et al. SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families. Circ Genome Precis Med, 2020; 13(6):e002911.
  3. Takahashi K, Shimizu W, Makita N, Nakayashiro M, Dynamic QT response to cold-water face immersion in long-QT syndrome type 3, Pediatrics International, 2020; 62(8):899-906.
  4. Nishimura K, Asakura M, Hirotani S, Okuhara Y, Shirai M, Orihara Y, Matsumoto Y, Naito Y, Minamino N, Masuyama T, Ishihara M. Biochem Biophys Res Commun, 2020; 527(4):960-967.
  5. Kawano H, Ishimatsu T, Kawamura K, Ishijima M, Hayashi T, Ishikawa T, Makita N, Maemura K. Pathological Features of Lamin Cardiomyopathy. Circ J, 2020; 84(7):1193.
  6. Miyao N, Hata Y, Izumi H, Nagaoka R, Oku Y, Takasaki I, Ishikawa T, Takarada S, Okabe M, Nakaoka H, Ibuki K, Ozawa S, Yoshida T, Hasegawa H, Makita N, Nishida N, Mori H, Ichida F, Hirono K, TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway. PLoS One, 2020;15(4): e0227393.
  7. Lahrouchi N, Ishikawa T, Makita N et al. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 2020;142:324-338.
  8. Ishikawa T, Mishima H, Barc J, Takahashi MP, Hirono K, Terada S, Kowase S, Sato T, Mukai Y, Yui Y, Ohkubo K, Kimoto H, Watanabe H, Hata Y, Aiba T, Ohno S, Chishaki A, Shimizu W, Horie M, Ichida F, Nogami A, Yoshiura K, Schott JJ, Makita N. Cardiac Emerinopathy: A Non-syndromic Nuclear Envelopathy with Increased Risk of Thromboembolic Stroke due to Progressive Atrial Standstill and Left Ventricular Non-compaction. Circ Arrhythm Electrophysiol, 2020;13(e): 008712.
  9. Hori M, Takahashi A, Son C, Ogura M, Harada-Shiba M, The Benign c.344G > A: p.(Arg115His) Variant in the LDLR Gene Interpreted From a Pedigree-Based Genetic Analysis of Familial Hypercholesterolemia. Lipids Health Dis, 2020;19(1):62.
  10. Yagi H, Nishigori M, Murakami Y, Osaki T, Muto S, Iba Y, Minatoya K, Ikeda Y, Ishibashi-Ueda H, Morisaki T, Ogino H, Tanaka H, Sasaki H, Matsuda H, Minamino N, Discovery of novel biomarkers for atherosclerotic aortic aneurysm through proteomics-based assessment of disease progression. Science Reports, 2020;1081,6429.
  11. Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M. Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls. J Natl Cancer Inst, 2020;112(4):369-376.
  12. Tamiya R, Sito Y, Fukamachi D, Nagashima K, Aizawa Y, Ohkubo K, Hatta T, Sezai A, Tanaka M, Ishikawa T, Makita N, Sumitomo N, Okumura Y, Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection. ECS Heart Failure, 2020;7:1338-1343.
  13. Shimizu A, Zankov DP, Sato A, Komeno M, Toyoda F, Yamazaki S, Makita T, Noda T, Asano Y, Miyashita Y, Takashima S, Ikawa M, Matsuura H, Morita H, Makita N, Hitosugi M, Ohno S, Horie M, Ogita H, Identification of Transmembrane Protein 168 Mutation in Familial Brugada Syndrome. FASEB J, 2020;6399-6417.
  14. Son C, Kasahara M, Tanaka T, Satoh-Asahara N, Kusakabe T, Nishimura K, Miyamoto Y, Kasama S, Hosoda K. Rationale, Design, and Methods of the Study of Comparison of Canagliflozin vs. Teneligliptin Against Basic Metabolic Risks in Patients with Type 2 Diabetes Mellitus (CANTABILE study): Protocol for a Randomized, Parallel-Group Comparison Trial. Diabetes Ther. 2020; 11:347-358.
  15. Tochiya M, Makino H, Tamanaha T, Matsuo M, Hishida A, Koezuka R, Ohata Y, Tomita T, Son C, Miyamoto Y, Yasuda S, Hosoda K. Effect of tofogliflozin on cardiac and vascular endothelial function in patients with type 2 diabetes and heart diseases: A pilot study. J Diabetes Investig. 2020;2:400-404.

2019年

  1. Lam M, Chen CY, Li Z, Martin AR, Bryois J, Ma X, Gaspar H, Ikeda M, Benyamin B, Brown BC, Liu R, Zhou W, Guan L, Kamatani Y, Kim SW, Kubo M, Kusumawardhani A, Liu CM, Ma H, Periyasamy S, Takahashi A, Xu Z, Yu H, Zhu F, Schizophrenia Working Group of the Psychiatric Genomics C, Indonesia Schizophrenia C, Genetic R.o.s.n.-C the N, Chen WJ, Faraone S, Glatt SJ, He L, Hyman SE, Hwu HG, McCarroll SA, Neale BM, Sklar P, Wildenauer DB, Yu X, Zhang D, Mowry BJ, Lee J, Holmans P, Xu S, Sullivan PF, Ripke S, O'Donovan MC, Daly MJ, Qin S, Sham P, Iwata N, Hong KS, Schwab SG, Yue W, Tsuang M, Liu J, Ma X, Kahn RS, Shi Y, Huang H. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nat Genet, 2019;51:1670-1678.
  2. Noguchi E, Akiyama M, Yagami A, Hirota T, Okada Y, Kato Z, Kishikawa R, Fukutomi Y, Hide M, Morita E, Aihara M, Hiragun M, Chinuki Y, Okabe T, Ito A, Adachi A, Fukunaga A, Kubota Y, Aoki T, Aoki Y, Nishioka K, Adachi T, Kanazawa N, Miyazawa H, Sakai H, Kozuka T, Kitamura H, Hashizume H, Kanegane C, Masuda K, Sugiyama K, Tokuda R, Furuta J, Higashimoto I, Kato A, Seishima M, Tajiri A, Tomura A, Taniguchi H, Kojima H, Tanaka H, Sakai A, Morii W, Nakamura M, Kamatani Y, Takahashi A, Kubo M, Tamari M, Saito H, Matsunaga K. HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy. J Allergy Clin Immunol, 2019;144:1354-1363.
  3. Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, Son C, Ogura M, Hosoda K, Miyamoto Y, Harada-Shiba M. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis, 2019;289:101-108.
  4. Takata R, Takahashi A, Fujita M, Momozawa Y, Saunders EJ, Yamada H, Maejima K, Nakano K, Nishida Y, Hishida A, Matsuo K, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Sasaki M, Shimizu A, Tanno K, Minegishi N, Suzuki K, Matsuda K, Kubo M, Inazawa J, Egawa S, Haiman CA, Ogawa O, Obara W, Kamatani Y, Akamatsu S, Nakagawa H. 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. Nat Commun, 2019;10:4422.
  5. Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M, Suzuki S, Matsui D, Naito M, Yamaji T, Iwasaki M, Sawada N, Tanno K, Sasaki M, Hozawa A, Minegishi N, Wakai K, Tsugane S, Shimizu A, Yamamoto M, Okada Y, Murakami Y, Kubo M, Kamatani Y. Characterizing rare and low-frequency height-associated variants in the Japanese population. Nature Communications, 2019;10:4393.
  6. Liu C, Kanazawa T, Tian Y, Mohamed Saini S, Mancuso S, Mostaid MS, Takahashi A, Zhang D, Zhang F, Yu H, Doo Shin H, Sub Cheong H, Ikeda M, Kubo M, Iwata N, Woo SI, Yue W, Kamatani Y, Shi Y, Li Z, Everall I, Pantelis C, Bousman C. The schizophrenia genetics knowledgebase: a comprehensive update of findings from candidate gene studies. Transl Psychiatry, 2019;9:205.
  7. Kawamura Y, Nakaoka H, Nakayama A, Okada Y, Yamamoto K, Higashino T, Sakiyama M, Shimizu T, Ooyama H, Ooyama K, Nagase M, Hidaka Y, Shirahama Y, Hosomichi K, Nishida Y, Shimoshikiryo I, Hishida A, Katsuura-Kamano S, Shimizu S, Kawaguchi M, Uemura H, Ibusuki R, Hara M, Naito M, Takao M, Nakajima M, Iwasawa S, Nakashima H, Ohnaka K, Nakamura T, Stiburkova B, Merriman TR, Nakatochi M, Ichihara S, Yokota M, Takada T, Saitoh T, Kamatani Y, Takahashi A, Arisawa K, Takezaki T, Tanaka K, Wakai K, Kubo M, Hosoya T, Ichida K, Inoue I, Shinomiya N, Matsuo H. Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout. Ann Rheum Dis, 2019;78:1430-1437.
  8. Shimizu C, Kim J, Eleftherohorinou H, Wright VJ, Hoang LT, Tremoulet AH, Franco A, Hibberd ML, Takahashi A, Kubo M, Ito K, Tanaka T, Onouchi Y, Coin LJM, Levin M, Burns JC, Shike H, International Kawasaki Disease Genetic, C. HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease. Hum Immunol, 2019;80(9):731-738.
  9. Tanikawa C, Kamatani Y, Terao C, Usami M, Takahashi A, Momozawa Y, Suzuki K, Ogishima S, Shimizu A, Satoh M, Matsuo K, Mikami H, Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Kohri K, Yu A.S.L, Yasui T, Murakami Y, Kubo M, Matsuda K. Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. J Am Soc Nephrol, 2019;30:855-864.
  10. Takashio S, Takahama H, Nishikimi T, Hayashi T, Nagai-Okatani C, Matsuo A, Nakagawa Y, Amano M, Hamatani Y, Okada A, Amaki M, Hasegawa T, Kanzaki H, Yasuda S, Kangawa K, Anzai T, Minamino N, Izumi C. Superiority of proatrial natriuretic peptide in the prognostic power in patients with acute decompensated heart failure on hospital admission: comparison with B-type natriuretic peptide and other natriuretic peptide forms. Open Heart. 2019;6:e001072.
  11. Takahama H, Nishikimi T, Takashio S, Hayashi T, Nagai-Okatani C, Asada T, Fujiwara A, Nakagawa Y, Amano M, Hamatani Y, Okada A, Amaki M, Hasegawa T, Kanzaki H, Nishimura K, Yasuda S, Kangawa K, Anzai T, Minamino N, Izumi C. Change in the NT-proBNP/Mature BNP Molar Ratio Precedes Worsening Renal Function in Patients With Acute Heart Failure: A Novel Predictor Candidate for Cardiorenal Syndrome. J Am Heart Assoc. 2019;8:e011468.
  12. Sugiyama N, Miyake S, Lin MH, Wakabayashi M, Marusawa H, Nishiumi S, Yoshida M, Ishihama Y. Comparative proteomics of Helicobacter pylori strains reveals geographical features rather than genomic variations. Genes Cells. 2019;24:139-150.
  13. Shimizu W, Makimoto H, Yamagata K, Kamakura T, Wada M, Miyamoto K, Inoue-Yamada Y, Okamura H, Ishibashi K, Noda T, Nagase S, Miyazaki A, Sakaguchi H, Shiraishi I, Makiyama T, Ohno S, Itoh H, Watanabe H, Hayashi K, Yamagishi M, Morita H, Yoshinaga M, Aizawa Y, Kusano K, Miyamoto Y, Kamakura S, Yasuda S, Ogawa H, Tanaka T, Sumitomo N, Hagiwara N, Fukuda K, Ogawa S, Aizawa Y, Makita N, Ohe T, Horie M, Aiba T. Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients. JAMA Cardiol. 2019;4:246-254.
  14. Saito K, Yagi H, Maekawa K, Nishigori M, Ishikawa M, Muto S, Osaki T, Iba Y, Minatoya K, Ikeda Y, Ishibashi-Ueda H, Ogino H, Sasaki H, Matsuda H, Saito Y, Minamino N. Lipidomic signatures of aortic media from patients with atherosclerotic and nonatherosclerotic aneurysms. Sci Rep. 2019;9:15472.
  15. Otani K, Tokudome T, Kamiya CA, Mao Y, Nishimura H, Hasegawa T, Arai Y, Kaneko M, Shioi G, Ishida J, Fukamizu A, Osaki T, Nagai-Okatani C, Minamino N, Ensho T, Hino J, Murata S, Takegami M, Nishimura K, Kishimoto I, Miyazato M, Harada-Shiba M, Yoshimatsu J, Nakao K, Ikeda T, Kangawa K. Deficiency of Cardiac Natriuretic Peptide Signaling Promotes Peripartum Cardiomyopathy-Like Remodeling in the Mouse Heart. Circulation. 2019.
  16. Osman AK, Minamino N, Marei HE. Identification and mapping of brain natriuretic peptide in the normal ventricular myocardium of a desert-dwelling mammalian model, the camel (Camelus dromedarius): Immunohistochemical and ultrastructural study. J Cell Physiol. 2019;234:3067-3077.
  17. Omura-Ohata Y, Son C, Makino H, Koezuka R, Tochiya M, Tamanaha T, Kishimoto I, Hosoda K. Efficacy of visceral fat estimation by dual bioelectrical impedance analysis in detecting cardiovascular risk factors in patients with type 2 diabetes. Cardiovasc Diabetol. 2019;18:137.
  18. Nagai-Okatani C, Nishigori M, Sato T, Minamino N, Kaji H, Kuno A. Wisteria floribunda agglutinin staining for the quantitative assessment of cardiac fibrogenic activity in a mouse model of dilated cardiomyopathy. Lab Invest. 2019;99:1749-1765.
  19. Miyoshi T, Hosoda H, Nakai M, Nishimura K, Miyazato M, Kangawa K, Ikeda T, Yoshimatsu J, Minamino N. Maternal biomarkers for fetal heart failure in fetuses with congenital heart defects or arrhythmias. Am J Obstet Gynecol. 2019;220:104 e1-104 e15.
  20. Miyoshi T, Hosoda H, Kurosaki KI, Shiraishi I, Nakai M, Nishimura K, Miyazato M, Kangawa K, Yoshimatsu J, Minamino N. Plasma natriuretic peptide levels reflect the status of the heart failure in fetuses with arrhythmia. J Matern Fetal Neonatal Med. 2019:1-7.
  21. Matsuo A, Nagai-Okatani C, Nishigori M, Kangawa K, Minamino N. Natriuretic peptides in human heart: Novel insight into their molecular forms, functions, and diagnostic use. Peptides. 2019;111:3-17.
  22. Makino H, Matsuo M, Hishida A, Koezuka R, Tochiya M, Ohata Y, Tamanaha T, Son C, Miyamoto Y, Hosoda K. Effect of linagliptin on oxidative stress markers in patients with type 2 diabetes: a pilot study. Diabetol Int. 2019;10:148-152.
  23. Makino H, Tanaka A, Asakura K, Koezuka R, Tochiya M, Ohata Y, Tamanaha T, Son C, Shimabara Y, Fujita T, Miyamoto Y, J K, K H. Addition of low-dose liraglutide to insulin therapy is useful for glycaemic control during the peri-operative period: effect of glucagon-like peptide-1 receptor agonist therapy on glycaemic control in patients undergoing cardiac surgery (GLOLIA study). Diabetic Medicine. 2019;36:1621-1628.
  24. Liu X, Sakai H, Nishigori M, Suyama K, Nawaji T, Ikeda S, Nishigouchi M, Okada H, Matsushima A, Nose T, Shimohigashi M, Shimohigashi Y. Receptor-binding affinities of bisphenol A and its next-generation analogs for human nuclear receptors. Toxicol Appl Pharmacol. 2019;377:114610.
  25. Hori M, Ohta N, Takahashi A, Masuda H, Isoda R, Yamamoto S, Son C, Ogura M, Hosoda K, Miyamoto Y, Harada-Shiba M. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis. 2019;289:101-108.
  26. Hori M, Miyauchi E, Son C, Harada-Shiba M. Detection of the benign c.2579C>T (p.A860V) variant of the LDLR gene in a pedigree-based genetic analysis of familial hypercholesterolemia. J Clin Lipidol. 2019;13:335-339.
  27. Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC, Lahrouchi N, Makita N, Norrish G, Odland HH, Ohno S, Papagiannis J, Parati G, Sekarski N, Tveten K, Vatta M, Webster G, Wilde AAM, Wojciak J, George AL, Ackerman MJ, Schwartz PJ. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. Eur Heart J. 2019;40:2964-2975.

2018年以前

最終更新日：2021年12月15日

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