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158. A double heterozygous variant in MYH6 and MYH7 associated with hypertrophic cardiomyopathy in a Japanese Family.

Author

Suzuki, Takanori, Saito, Kazuyoshi, Yoshikawa, Tetsushi, Hirono, Keichi, Hata, Yukiko, Nishida, Naoki, Yasuda, Kazushi, and Nagashima, Masami

Abstract

Hypertrophic cardiomyopathy (HCM) is genetically heterogeneous. Different variants associated with HCM have been identified in several cardiac sarcomeric protein genes. We identified the heterozygous missense variant c.2191 C > A p. Pro 731 Thr in the MYH7 gene and the heterozygous frameshift variant c.1091–1092 insTGAA p.Lys364fs*in the MYH6 gene in a Japanese family. Family members with the double variants demonstrated severe phenotypes, such as sudden cardiac-related death and heart failure. These double variants were well segregated and might be responsible for the severity of cardiovascular events in affected family members. These double variants are potentially associated with specific phenotypes in HCM. Further studies are needed to analyze specific gene functions. < Learning objective: Hypertrophic cardiomyopathy (HCM) is genetically heterogeneous and is associated with different variants in sarcomeric protein genes. We identified a heterozygous missense variant in the MYH7 gene and a heterozygous frameshift variant in the MYH6 gene in a Japanese family. These double variants are potentially associated with specific phenotypes in HCM.> [ABSTRACT FROM AUTHOR]

Published
2022
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165. Increased Burden of Ion Channel Gene Variants Is Related to Distinct Phenotypes in Pediatric Patients With Left Ventricular Noncompaction

Author

Hirono, Keiichi, primary, Hata, Yukiko, additional, Miyao, Nariaki, additional, Okabe, Mako, additional, Takarada, Shinya, additional, Nakaoka, Hideyuki, additional, Ibuki, Keijiro, additional, Ozawa, Sayaka, additional, Origasa, Hideki, additional, Nishida, Naoki, additional, Ichida, Fukiko, additional, Takeda, Atsuhito, additional, Shimabukuro, Atsuya, additional, Akita, Chisato, additional, Fukumi, Daichi, additional, Nishihara, Eiki, additional, Tsuda, Etsuko, additional, Sakaguchi, Heima, additional, Ishida, Hidekazu, additional, Tomita, Hideshi, additional, Kise, Hiroaki, additional, Nagamine, Hiroki, additional, Uchiyama, Hiroki, additional, Katayama, Hiromi, additional, Ooki, Hiroo, additional, Nishikawa, Hiroshi, additional, Ono, Hiroshi, additional, Horigome, Hisanori Sakazaki, Hitoshi, additional, Muneuchi, Jun, additional, Yoshimoto, Jun, additional, Soumura, Junpei, additional, Kamada, Masahiro, additional, Yasuda, Kazushi, additional, Ikeda, Kazuyuki, additional, Yasuda, Keiji, additional, Kurosaki, Kenichi, additional, Mine, Kenji, additional, Ueno, Kentaro, additional, Takigiku, Kiyohiro, additional, Ogawa, Kiyoshi, additional, Inaguma, Kotaro, additional, Oyama, Kotaro, additional, Urayama, Kotaro, additional, Takahashi, Kunihiko, additional, Ohta, Kunio, additional, Nakazawa, Makoto, additional, Nakayashiro, Mami, additional, Ayusawa, Mamoro, additional, Toyono, Manatomo, additional, Nii, Masaki, additional, Miura, Masaru, additional, Fujino, Mitsuhiro, additional, Kuwabara, Naoshi, additional, Momoi, Nobuo, additional, Tsujii, Nobuyuki, additional, Motoki, Noriko, additional, Matsuo, Osamu, additional, Baba, Reizo, additional, Inuzuka, Ryo, additional, Kido, Sachiko, additional, Iwashima, Satoru, additional, Yasukochi, Satoshi, additional, Okada, Seigo, additional, Sato, Seiichi, additional, Mitsuru, Seki, additional, Kogaki, Shigetoyo, additional, Hoshino, Shinsuke, additional, Tsukano, Shinya, additional, Fujita, Shuhei, additional, Kimura, Sumito, additional, Urata, Susumu, additional, Kato, Taichi, additional, Toda, Takako, additional, Uchiyama, Takamichi, additional, Shindo, Takahiro, additional, Higaki, Takashi, additional, Kobayashi, Tomio, additional, Ozaki, Tomoyasu, additional, Tanaka, Yasuhiko, additional, Katsube, Yasuhiro, additional, Hamabuchi, Yasunobu, additional, Kajiyama, Yo, additional, Yoshida, Yoko, additional, Murakami, Yosuke, additional, Abe, Yuriko, additional, Hiraumi, Yoshimi, additional, Fukuda, Yutaka, additional, and Odanaka, Yutaka, additional

Published
2020
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166. TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway

Author

Miyao, Nariaki, primary, Hata, Yukiko, additional, Izumi, Hironori, additional, Nagaoka, Ryo, additional, Oku, Yuko, additional, Takasaki, Ichiro, additional, Ishikawa, Taisuke, additional, Takarada, Shinya, additional, Okabe, Mako, additional, Nakaoka, Hideyuki, additional, Ibuki, Keijiro, additional, Ozawa, Sayaka, additional, Yoshida, Tomoyuki, additional, Hasegawa, Hideyuki, additional, Makita, Naomasa, additional, Nishida, Naoki, additional, Mori, Hisashi, additional, Ichida, Fukiko, additional, and Hirono, Keiichi, additional

Published
2020
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167. BioHackathon 2015: Semantics of data for life sciences and reproducible research

Author

Vos, Rutger A., primary, Katayama, Toshiaki, additional, Mishima, Hiroyuki, additional, Kawano, Shin, additional, Kawashima, Shuichi, additional, Kim, Jin-Dong, additional, Moriya, Yuki, additional, Tokimatsu, Toshiaki, additional, Yamaguchi, Atsuko, additional, Yamamoto, Yasunori, additional, Wu, Hongyan, additional, Amstutz, Peter, additional, Antezana, Erick, additional, Aoki, Nobuyuki P., additional, Arakawa, Kazuharu, additional, Bolleman, Jerven T., additional, Bolton, Evan E., additional, Bonnal, Raoul J. P., additional, Bono, Hidemasa, additional, Burger, Kees, additional, Chiba, Hirokazu, additional, Cohen, Kevin B., additional, Deutsch, Eric W., additional, Fernández-Breis, Jesualdo T., additional, Fu, Gang, additional, Fujisawa, Takatomo, additional, Fukushima, Atsushi, additional, García, Alexander, additional, Goto, Naohisa, additional, Groza, Tudor, additional, Hercus, Colin, additional, Hoehndorf, Robert, additional, Itaya, Kotone, additional, Juty, Nick, additional, Kawashima, Takeshi, additional, Kim, Jee-Hyub, additional, Kinjo, Akira R., additional, Kotera, Masaaki, additional, Kozaki, Kouji, additional, Kumagai, Sadahiro, additional, Kushida, Tatsuya, additional, Lütteke, Thomas, additional, Matsubara, Masaaki, additional, Miyamoto, Joe, additional, Mohsen, Attayeb, additional, Mori, Hiroshi, additional, Naito, Yuki, additional, Nakazato, Takeru, additional, Nguyen-Xuan, Jeremy, additional, Nishida, Kozo, additional, Nishida, Naoki, additional, Nishide, Hiroyo, additional, Ogishima, Soichi, additional, Ohta, Tazro, additional, Okuda, Shujiro, additional, Paten, Benedict, additional, Perret, Jean-Luc, additional, Prathipati, Philip, additional, Prins, Pjotr, additional, Queralt-Rosinach, Núria, additional, Shinmachi, Daisuke, additional, Suzuki, Shinya, additional, Tabata, Tsuyosi, additional, Takatsuki, Terue, additional, Taylor, Kieron, additional, Thompson, Mark, additional, Uchiyama, Ikuo, additional, Vieira, Bruno, additional, Wei, Chih-Hsuan, additional, Wilkinson, Mark, additional, Yamada, Issaku, additional, Yamanaka, Ryota, additional, Yoshitake, Kazutoshi, additional, Yoshizawa, Akiyasu C., additional, Dumontier, Michel, additional, Kosaki, Kenjiro, additional, and Takagi, Toshihisa, additional

Published
2020
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174. Simulation and measurement of frequency modulation in submillimeter-wave gyrotron

Author

Pereyaslavets, Michael, Idehara, Toshitaka, Nishida, Naoki, Yoshida, Kiyohiko, and Ogawa, Isamu

Subjects
Microwave tubes -- Analysis, Frequency modulation -- Analysis, Submillimeter waves -- Analysis, Business, Chemistry, Electronics, Electronics and electrical industries
Abstract

Frequency modulation of the gyrotron output has been numerically simulated employing the approximation of weakly relativistic, mono-velocity electron beam as well as a quasi-empirical approach. The simulation results are compared to a first experiment in the 300-GHz region performed with a submillimeter-wave gyrotron named 'Gyrotron FU IV.' The modulation amplitude of 30 MHz has been achieved by a 120-V modulation of the accelerating voltage resulting in the variation of the relativistic electron mass and in the corresponding modulation of the electron cyclotron frequency. Calculated amplitudes of frequency modulation are in reasonable agreement with the experimental results. Index Terms - Frequency modulation, frequency pulling, gyrotron.

Published
1999

175. Risk factors of sudden death in the Japanese hot bath in the senior population.

Author

Chiba, Takashi, Yamauchi, Misa, Nishida, Naoki, Kaneko, Taeko, Yoshizaki, Katsuaki, and Yoshioka, Naofumi

Subjects
Risk factors (Health) -- Research -- Usage, Aging -- Research -- Usage, Physiological research -- Usage -- Research, Sudden death -- Causes of -- Research, Arrhythmia -- Research, Baths, Hot -- Research -- Usage, Winter -- Research -- Usage
Abstract

Abstract A series of experiments were carried out to clarify the cause of death and the risk factors related to sudden death in the Japanese senior population while bathing in [...]

Published
2005

184. Narrowing Trees for Syntactically Deterministic Conditional Term Rewriting Systems

Author

Nishida, Naoki and Maeda, Yuya

Subjects
TheoryofComputation_MATHEMATICALLOGICANDFORMALLANGUAGES, 000 Computer science, knowledge, general works, TheoryofComputation_LOGICSANDMEANINGSOFPROGRAMS, Computer Science::Logic in Computer Science, ComputingMethodologies_SYMBOLICANDALGEBRAICMANIPULATION, Computer Science, Computer Science::Programming Languages
Abstract

A narrowing tree for a constructor term rewriting system and a pair of terms is a finite representation for the space of all possible innermost-narrowing derivations that start with the pair and end with non-narrowable terms. Narrowing trees have grammar representations that can be considered regular tree grammars. Innermost narrowing is a counterpart of constructor-based rewriting, and thus, narrowing trees can be used in analyzing constructor-based rewriting to normal forms. In this paper, using grammar representations, we extend narrowing trees to syntactically deterministic conditional term rewriting systems that are constructor systems. We show that narrowing trees are useful to prove two properties of a normal conditional term rewriting system: one is infeasibility of conditional critical pairs and the other is quasi-reducibility.

Published
2018
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195. Confluence Competition 2018

Author

Aoto, Takahito, Hamana, Makoto, Hirokawa, Nao, Middeldorp, Aart, Nagele, Julian, Nishida, Naoki, Shintani, Kiraku, Zankl, Harald, Aoto, Takahito, Hamana, Makoto, Hirokawa, Nao, Middeldorp, Aart, Nagele, Julian, Nishida, Naoki, Shintani, Kiraku, and Zankl, Harald

Abstract

We report on the 2018 edition of the Confluence Competition, a competition of software tools that aim to (dis)prove confluence and related properties of rewrite systems automatically.

Published
2018
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196. Narrowing Trees for Syntactically Deterministic Conditional Term Rewriting Systems

Author

Naoki Nishida and Yuya Maeda, Nishida, Naoki, Maeda, Yuya, Naoki Nishida and Yuya Maeda, Nishida, Naoki, and Maeda, Yuya

Abstract

A narrowing tree for a constructor term rewriting system and a pair of terms is a finite representation for the space of all possible innermost-narrowing derivations that start with the pair and end with non-narrowable terms. Narrowing trees have grammar representations that can be considered regular tree grammars. Innermost narrowing is a counterpart of constructor-based rewriting, and thus, narrowing trees can be used in analyzing constructor-based rewriting to normal forms. In this paper, using grammar representations, we extend narrowing trees to syntactically deterministic conditional term rewriting systems that are constructor systems. We show that narrowing trees are useful to prove two properties of a normal conditional term rewriting system: one is infeasibility of conditional critical pairs and the other is quasi-reducibility.

Published
2018
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197. Confluence Competition 2018

Author

Takahito Aoto and Makoto Hamana and Nao Hirokawa and Aart Middeldorp and Julian Nagele and Naoki Nishida and Kiraku Shintani and Harald Zankl, Aoto, Takahito, Hamana, Makoto, Hirokawa, Nao, Middeldorp, Aart, Nagele, Julian, Nishida, Naoki, Shintani, Kiraku, Zankl, Harald, Takahito Aoto and Makoto Hamana and Nao Hirokawa and Aart Middeldorp and Julian Nagele and Naoki Nishida and Kiraku Shintani and Harald Zankl, Aoto, Takahito, Hamana, Makoto, Hirokawa, Nao, Middeldorp, Aart, Nagele, Julian, Nishida, Naoki, Shintani, Kiraku, and Zankl, Harald

Abstract

We report on the 2018 edition of the Confluence Competition, a competition of software tools that aim to (dis)prove confluence and related properties of rewrite systems automatically.

Published
2018
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198. Reversible computation in term rewriting

Author

Universitat Politècnica de València. Departamento de Sistemas Informáticos y Computación - Departament de Sistemes Informàtics i Computació, European Commission, European Cooperation in Science and Technology, Generalitat Valenciana, Ministerio de Economía y Competitividad, Nishida, Naoki, Palacios, Adrián, Vidal, Germán, Universitat Politècnica de València. Departamento de Sistemas Informáticos y Computación - Departament de Sistemes Informàtics i Computació, European Commission, European Cooperation in Science and Technology, Generalitat Valenciana, Ministerio de Economía y Competitividad, Nishida, Naoki, Palacios, Adrián, and Vidal, Germán

Abstract

[EN] Essentially, in a reversible programming language, for each forward computation from state S to state S', there exists a constructive method to go backwards from state S' to state S. Besides its theoretical interest, reversible computation is a fundamental concept which is relevant in many different areas like cellular automata, bidirectional program transformation, or quantum computing, to name a few. In this work, we focus on term rewriting, a computation model that underlies most rule-based programming languages. In general, term rewriting is not reversible, even for injective functions; namely, given a rewrite step t(1) -> t(2), we do not always have a decidable method to get t(1) from t(2). Here, we introduce a conservative extension of term rewriting that becomes reversible. Furthermore, we also define two transformations, injectivization and inversion, to make a rewrite system reversible using standard term rewriting. We illustrate the usefulness of our transformations in the context of bidirectional program transformation. (C) 2017 Elsevier Inc. All rights reserved.

Published
2018

199. Sex‐dependent expression of prostatic markers and hormone receptors in cystic tumor of the atrioventricular node: A histopathological study of three cases.

Author

Ichimata, Shojiro, Hata, Yukiko, Yajima, Nobuhisa, Katayama, Yosei, Nomoto, Kazuhiro, and Nishida, Naoki

Subjects
ATRIOVENTRICULAR node, ESTROGEN receptors, CELL receptors, PROGESTERONE receptors, PROSTATE-specific antigen, HORMONE receptors, HEART block
Abstract

We pathologically investigated three autopsy cases of cystic tumor of the atrioventricular node (CTAVN) with sudden death. Case 1 was a 36‐year‐old woman without any clinical history. Case 2 was a 76‐year‐old man with an implanted pacemaker for complete atrioventricular block. Case 3 was a 45‐year‐old man with a history of first‐degree AV block and sinus bradycardia. Microscopically, all three cases showed the bilayered structure of tumor glands and corpora amylacea in the glandular lumens. Immunohistochemically, the inner cells of the tumor glands were positive for cytokeratin CAM5.2, CEA, EMA, olfactomedin‐4 and alpha‐methylacyl‐coenzyme A racemase; the outer cells were positive for p63 and cytokeratin high molecular weight. In Case 1, androgen receptor and estrogen receptor were negative; progesterone receptor was focally positive in both the inner and outer cells. In Case 2, androgen receptor showed intermediate positivity in the inner cells; estrogen receptor and progesterone receptor were positive in the outer cells. Positive expression of both prostate‐specific antigen and prostate‐specific acid phosphate were found in the inner cells of both male cases. Because CTAVN cells exhibit different degrees of the prostatic phenotype depending on the patient's sex, we believe that CTAVN may originate from urogenital sinus tissue in some cases. [ABSTRACT FROM AUTHOR]

Published
2021
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200. Genetic Study in Left Ventricular Noncompaction

Author

Wang, Ce, Hata, Yukiko, Hirono, Keiichi, Takasaki, Asami, Watanabe Ozawa, Sayaka, Nakaoka, Hideyuki, Saito, Kazuyoshi, Miyao, Nariaki, Okabe, Mako, Ibuki, Keijiro, Nishida, Naoki, Origasa, Hideki, Yu, Xianyi, Bowles, Neil E., Ichida, Fukiko, and Hayabuchi, Yasunobu

Subjects
Male, 0301 basic medicine, Pathology, Time Factors, DNA Mutational Analysis, Cardiomyopathy, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Ventricular Function, Left, 0302 clinical medicine, Gene Frequency, Japan, Pediatric Cardiology, genetics, Genotype-Phenotype Correlations, Original Research, Genetics, Isolated Noncompaction of the Ventricular Myocardium, Congenital Heart Disease, High-Throughput Nucleotide Sequencing, noncompaction cardiomyopathy, Defibrillators, Implantable, Phenotype, Child, Preschool, Female, Cardiology and Cardiovascular Medicine, Genetic Markers, medicine.medical_specialty, Noncompaction cardiomyopathy, Electric Countershock, Polymorphism, Single Nucleotide, Disease-Free Survival, DNA sequencing, 03 medical and health sciences, Predictive Value of Tests, medicine, Humans, Genetic Predisposition to Disease, In patient, Genetic Association Studies, business.industry, Genetic variants, Infant, medicine.disease, 030104 developmental biology, Mutation, Heart Transplantation, Left ventricular noncompaction, prognosis, business
Abstract

Background Left ventricular noncompaction ( LVNC ) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next‐generation sequencing and to evaluate genotype–phenotype correlations in LVNC patients. Methods and Results Using next‐generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients. We identified 43 pathogenic variants in 16 genes in 39 patients (38%); 28 were novel variants. Sarcomere gene variants accounted for 63%, and variants in genes associated with channelopathies accounted for 12%. MYH7 and TAZ pathogenic variants were the most common, and rare variant collapsing analysis showed variants in these genes contributed to the risk of LVNC , although patients carrying MYH7 and TAZ pathogenic variants displayed different phenotypes. Patients with pathogenic variants had early age of onset and more severely decreased left ventricular ejection fractions. Survival analysis showed poorer prognosis in patients with pathogenic variants, especially those with multiple variants: All died before their first birthdays. Adverse events were noted in 17 patients, including 13 deaths, 3 heart transplants, and 1 implantable cardioverter‐defibrillator insertion. Congestive heart failure at diagnosis and pathogenic variants were independent risk factors for these adverse events. Conclusions Next‐generation sequencing revealed a wide spectrum of genetic variations and a high incidence of pathogenic variants in LVNC patients. These pathogenic variants were independent risk factors for adverse events. Patients harboring pathogenic variants showed poor prognosis and should be followed closely.

Published
2017
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