Search Results 1-20 of 14985

  • Regional spread of three distinct genotypes of Mycoplasma pneumoniae and different timing of macrolide-resistant strain appearance among genotypes between 2011 and 2013 in Yamagata, Japan

    Suzuki Yu , Seto Junji , Shimotai Yoshitaka , Itagaki Tsutomu , Katsushima Yuriko , Katsushima Fumio , Ikeda Tatsuya , Mizuta Katsumi , Hongo Seiji , Matsuzaki Yoko

    … These genotypic differences can account for the variation in the prevalence of macrolide resistance-associated mutations in each of the studied areas. …

    山形大学紀要. 医学 : 山形医学 = Bulletin of the Yamagata University. Medical science : Yamagata medical journal 38(1), 19-24, 2020-02-15

    IR  DOI 

  • Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis

    Kakiuchi Nobuyuki , Yoshida Kenichi , Uchino Motoi , Kihara Takako , Akaki Kotaro , Inoue Yoshikage , Kawada Kenji , Nagayama Satoshi , Yokoyama Akira , Yamamoto Shuji , Matsuura Minoru , Horimatsu Takahiro , Hirano Tomonori , Goto Norihiro , Takeuchi Yasuhide , Ochi Yotaro , Shiozawa Yusuke , Kogure Yasunori , Watatani Yosaku , Fujii Yoichi , Kim Soo Ki , Kon Ayana , Kataoka Keisuke , Yoshizato Tetsuichi , Nakagawa Masahiro M. , Yoda Akinori , Nanya Yasuhito , Makishima Hideki , Shiraishi Yuichi , Chiba Kenichi , Tanaka Hiroko , Sanada Masashi , Sugihara Eiji , Sato Taka-aki , Maruyama Takashi , Miyoshi Hiroyuki , Taketo Makoto Mark , Oishi Jun , Inagaki Ryosaku , Ueda Yutaka , Okamoto Shinya , Okajima Hideaki , Sakai Yoshiharu , Sakurai Takaki , Haga Hironori , Hirota Seiichi , Ikeuchi Hiroki , Nakase Hiroshi , Marusawa Hiroyuki , Chiba Tsutomu , Takeuchi Osamu , Miyano Satoru , Seno Hiroshi , Ogawa Seishi

    潰瘍性大腸炎による上皮再構築メカニズムと発がんとの関係を解明 --IL-17シグナル経路に変異を獲得した上皮細胞は発がん過程で陰性に選択される--. 京都大学プレスリリース. 2019-12-20.

    Nature (577), 260-265, 2020-01-09

    IR 

  • APOBEC3B reporter myeloma cell lines identify DNA damage response pathways leading to APOBEC3B expression

    Yamazaki Hiroyuki , Shirakawa Kotaro , Matsumoto Tadahiko , Kazuma Yasuhiro , Matsui Hiroyuki , Horisawa Yoshihito , Stanford Emani , Sarca Anamaria Daniela , Shirakawa Ryutaro , Shindo Keisuke , Takaori-Kondo Akifumi

    … Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like (APOBEC) DNA cytosine deaminase 3B (A3B) is a DNA editing enzyme which induces genomic DNA mutations in multiple myeloma and in various other cancers. …

    PLOS ONE 15(1), 2020-01-08

    IR 

  • Single-cell analysis based dissection of clonality in myelofibrosis

    Mylonas Elena , Yoshida Kenichi , Frick Mareike , Hoyer Kaja , Christen Friederike , Kaeda Jaspal , Obenaus Matthias , Noerenberg Daniel , Hennch Cornelius , Chan Willy , Ochi Yotaro , Shiraishi Yuichi , Shiozawa Yusuke , Zenz Thorsten , Oakes Christopher C. , Sawitzki Birgit , Schwarz Michaela , Bullinger Lars , le Coutre Philipp , Rose-Zerilli Matthew J. J. , Ogawa Seishi , Damm Frederik

    … It requires acquisition of multiple somatic mutations that collectively cause a malignant phenotype and continuous clonal evolution is often linked to tumor progression. … Whole-exome sequencing at multiple time points reveal acquisition of somatic mutations and copy number aberrations over time. … Disease progression associates with increased genetic heterogeneity and gain of RAS/RTK pathway mutations. …

    Nature Communications (11), 2020-01-07

    IR 

  • High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8

    Fukuyama Megumi , Ohno Seiko , Ozawa Junichi , Kato Koichi , Makiyama Takeru , Nakagawa Yoshihisa , Horie Minoru

    … The study cohort comprised 25 patients with LQT8 (14 mutations) and 25 patients with LQT3 (14 mutations). … Compared with the LQT3 group, in the LQT8 group there was a tendency for mutations in patients with LaT to be located in domain-linking regions.</p><p><b><i>Conclusions:</i></b>In this study, two-thirds of patients with LQT8 exhibited LaT on ECG, and nearly one-third of those experienced cardiopulmonary arrest. …

    Circulation Journal 84(4), 559-568, 2020

    J-STAGE 

  • Intracranial Mesenchymal Chondrosarcoma Lacking the Typical Histopathological Features Diagnosed by <i>HEY1-NCOA2</i> Gene Fusion

    Uneda Atsuhito , Kurozumi Kazuhiko , Fujimura Atsushi , Kamiya Atsunori , Hirose Takanori , Yanai Hiroyuki , Date Isao

    mutations were negative. …

    NMC Case Report Journal, 2020

    J-STAGE 

  • Isolation and characterization of <i>Streptococcus thermophilus</i> possessing <i>prtS</i> gene from raw milk in Japan

    YAMAMOTO Eri , WATANABE Reiko , KOIZUMI Akiko , ISHIDA Tatsuya , KIMURA Katsunori

    … However, the remaining 6 <i>prtS</i>-positive strains showed slow acidification properties, and they had several amino acid mutations in PrtS compared with fast acidifying <i>S. … are prevalent in Japan and that some <i>prtS</i>-positive strains could lose their fast acidifying properties through mutations in PrtS.</p> …

    Bioscience of Microbiota, Food and Health, 2020

    J-STAGE 

  • Activating transcription factor 4(ATF4)-dependent activation of the human tryptophan hydroxylase 2 gene is mediated through binding to a CCAAT-enhancer-binding protein (CEBP)-ATF composite site in its promoter  [in Japanese]

    Yukino Nawa , Kaneko Hanae , Tsubonoya Masaaki , Hiroi Tomoko , Takahashi Ryoya , Matsui Hiroaki

    … the hTPH2 promoter into RN46A cells. Overexpression studies demonstrated that ATF4-mediated activation of the hTPH2 promoter was further enhanced by co-expression of each of the five CEBPs including CEBPG which lacks all known activation domains. The CEBP-ATF composite site mutations negated the effects of ATF4. A dominant negative ATF4 blocked the effects of ATF4. Functional analysis of N-terminal and internal deletion mutants indicated that ATF4 (aa 1-124) is critical for activation. Moreover, co-expression of endogenous inhibitor proteins, Trib3 or …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 3-P-291, 2020

    J-STAGE 

  • Regulation of erythropoiesis in zebrafish model by the kinase of ribosomal protein S19  [in Japanese]

    Torihara Hidetsugu , Nakamine-Higa Sayomi , Okitsu Shiho , Yamamoto Hideyuki

    … <p>In Diamond-Blackfan anemia (DBA), about half of the patients have mutations in one of several ribosomal protein (RP) genes. … The most frequently mutated gene (~25%) is the ribosomal protein S19 (<i>RPS19</i>), in which a hot spot for mutations between residues 52 and 62 has been reported. … However, it is not clear why mutations in the ubiquitously expressed <i>RPS19</i> …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 3-P-336, 2020

    J-STAGE 

  • Unveiling the impact of epigenetic regulation in disease pathogenesis with iPS cell technology  [in Japanese]

    Yasuhiro Yamada

    mutations are insufficient to induce ERK signaling in the pancreas. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 3-JPS-3, 2020

    J-STAGE 

  • Accurate modeling of neurodevelopmental disorders using patients'-derived iPS cells  [in Japanese]

    Nakazawa Takanobu , Hashimoto Ryota , Takuma Kazuhiro , Hashimoto Hitoshi

    mutations, genomic spontaneous mutations identified in an affected child, but not unaffected parents, contribute to the risk of psychiatric disorders. … mutations can be associated with ASD pathogenesis<i>.</i> … point mutations, we have been focusing on copy number variants, which represent large genomic duplications or deletions, and found that 3q29 deletion impaired central nervous system development in patient's-derived neural stem cells. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 3-JPS-1, 2020

    J-STAGE 

  • Molecular function analysis on the role of TRPV6 in the onset of digestive system disease  [in Japanese]

    Hiroshi Kotani , Hamada Shin , Hirano Tatsuya , Kawamoto Tetsuya , Sakaguchi Reiko , Mori Masayuki , Mori Yasuo , Masamune Atsushi

    … signaling is related to the onset of a certain digestive system disease, and mutations of Transient Receptor Potential cation channel subfamily V member 6 (TRPV6) was identified from genetic screening of a patient. … In this study, we focused on the possibility that the genetic mutations of TRPV6 obtained from a genetic screening of a large number of patients of different races are involved in the development of the digestive system disease and analyzed the function of TRPV6 mutants using Ca<sup>2+</sup> …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 2-P-241, 2020

    J-STAGE 

  • Analysis of astrocyte and microglia in Alzheimer's disease model mouse with higher uric acid level  [in Japanese]

    Tomioka Naoko H. , Hosoyamada Makoto

    … knock-in mouse(App-KI)which carries humanized amyloid βprotein (Aβ) sequence with familiar AD-associated mutations, and uricase knockout mouse (Uox-KO) which shows increased level of uric acid. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 2-P-189, 2020

    J-STAGE 

  • Effects of a novel RyR1 inhibitor on malignant hyperthermia model mice  [in Japanese]

    Murayama Takashi , Allen Paul D. , Sakurai Takashi , Yamazawa Toshiko , Kobayashi Takuya , Kurebayashi Nagomi , Noguchi Satoru , Nishino Ichizo , Mori Shuichi , Kagechika Hiroyuki , Lopez Jose R.

    … <p>Type 1 ryanodine receptor (RyR1) is a Ca<sup>2+</sup> release channel in the sarcoplasmic reticulum and plays an important role in excitation-contraction coupling. Genetic mutations in RyR1 cause various skeletal muscle diseases including malignant hyperthermia (MH). Since the main underlying mechanism of MH is hyperactive Ca<sup>2+</sup> release by gain-of-function of the RyR1 channel, inhibition of RyR1 is a promising treatment for the disease. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 2-O-056, 2020

    J-STAGE 

  • Functional analysis of mutant SLCO2A1 transporter responsible for human intractable small intestinal ulcer  [in Japanese]

    Satowa Seki , Tanaka Gen , Hisamatsu Tadakazu , Sakurai Hiroyuki

    … Recently, mutations in <i>slco2a1</i> … Most mutations in SLCO2A1 gene present in CEAS patients affected Vmax suggesting these mutations inhibited cell surface expression of the transporter rather than changing the affinity to the substrate. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 2-O-022, 2020

    J-STAGE 

  • Novel therapeutic approach mediated by microglia for rare brain diseases  [in Japanese]

    Ikeuchi Takeshi

    … Recently, bi-allelic mutations in <i>CSF1R</i> …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 1-S13-1, 2020

    J-STAGE 

  • Abnormal RyR2 in arrhythmogenic disorders and CICR  [in Japanese]

    Kurebayashi Nagomi

    … Many arrhythmogenic mutations in RyR2 are reported to increase AP-independent spontaneous Ca<sup>2+</sup> … release: (1) CPVT mutations increase the cytoplasmic Ca<sup>2+</sup> … sensitivity of RyR2 to enhance CICR, or (2) mutations decrease threshold for store-overload induced Ca<sup>2+</sup> … release by the mutations, we performed quantitative evaluation of CICR activity and cytoplasmic and ER Ca<sup>2+</sup> …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 1-S14-3, 2020

    J-STAGE 

  • Analysis of CICR control mechanism using molecular dynamics simulation and malignant hyperthermia model mouse  [in Japanese]

    Yamazawa Toshiko

    … <p>Mutations in type 1 ryanodine receptor (<i>RyR1</i>) gene cause severe muscle diseases, such as malignant hyperthermia (MH), which is a disorder of Ca<sup>2+</sup>-induced Ca<sup>2+</sup> … We combined functional studies and molecular dynamics (MD) simulations of RyR1 bearing disease-associated mutations at the N-terminal region. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 1-S14-2, 2020

    J-STAGE 

  • Research on the molecular pathogenesis of "primary astrocyte disorder" Alexander disease.  [in Japanese]

    Saito Kozo , Shigetomi Eiji , Koizumi Schuichi

    … <p>Alexander disease (AxD) is a rare neurodegenerative disorder caused by the mutations in glial fibrillary acidic protein (GFAP) gene. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 93(0), 1-S13-4, 2020

    J-STAGE 

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