Search Results 1-20 of 1696

  • Protocol to test the efficacy and safety of frequent applications of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomised prospective study

    Ueda Kaori , Kurimoto Takuji , Takano Fumio , Murai Yusuke , Mori Sotaro , Sakamoto Mari , Nagai Takayuki , Yamada-Nakanishi Yuko , Nakamura Makoto

    … More than 90% of patients with LHON have one of three point mutations (ie, G3460A, G11778A and T14484C). … We previously reported that a 12-week session of skin electrical stimulation (SES) with a 2-week interval significantly improved visual acuity and field tests 1 week after the last stimulation and without adverse effects in 10 cases of LHON carrying the mt DNA G11778A mutation. …

    BMJ Open 11(10), e048814, 2021-10

    IR 

  • Characterization of the aberrant splicing of MAP3K7 induced by cancer-associated SF3B1 mutation

    Li Zhuang , Zhao Bo , Shi Yueru , Liang Yuqi , Qian Rui , Wan Youzhong

    The journal of biochemistry 170(1), 69-77, 2021-07

  • Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report

    Ito Yuya , Takazono Takahiro , Koga Satoru , Nakano Yuichiro , Ashizawa Nobuyuki , Hirayama Tatsuro , Tashiro Masato , Saijo Tomomi , Yamamoto Kazuko , Imamura Yoshifumi , Miyazaki Taiga , Yanagihara Katsunori , Izumikawa Koichi , Mukae Hiroshi

    … Patient-derived ARAf occurs after prolonged azole treatment in patients with aspergillosis and involves various cyp51A point mutations or non-cyp51A mutations. … In this study, we reported the case of a patient with ARAf due to HapE mutation, as well as the virulence of the isolate.Case presentation: A 37-year-old male was presented with productive cough and low-grade fever. …

    BMC Infectious Diseases 21(1), art. no. 573, 2021-06-14

    IR 

  • Molecular pathogenesis of pediatric thyroid carcinoma

    Mitsutake Norisato , Saenko Vladimir

    … In PTC development, basically two types of genetic alterations, fusion oncogenes,mainly RET/PTC, and a point mutation,mainly BRAFV600E, are thought to play a key role as driver oncogenes. …

    Journal of radiation research (62), i71-i77, 2021-05-05

    IR 

  • Investigation of the effects of actinorhodin biosynthetic gene cluster expression and a rpoB point mutation on the metabolome of Streptomyces coelicolor M1146

    Nitta Katsuaki , Breitling Rainer , Takano Eriko , Putri Sastia P. , Fukusaki Eiichiro

    Journal of bioscience and bioengineering 131(5), 525-536, 2021-05

    DOI 

  • A structural signature motif enlightens the origin and diversification of nuclear receptors

    Brice Beinsteiner , Gabriel V. Markov , Stéphane Erb , Yassmine Chebaro , Alastair G. McEwen , Sarah Cianférani , Vincent Laudet , Dino Moras , Isabelle M. L. Billas

    … We then carried out structural and biophysical analyses, in particular through point mutation studies of key RXR signature residues and showed that this motif plays a critical role in the network of interactions stabilizing homodimers. …

    PLOS Genetics 17(4), e1009492, 2021-04-21

    IR 

  • Detection A2058G and A2059G on the 23S rRNA Gene by Multiplex Nested PCR to Identify <i>Treponema pallidum</i> Resistance to Azithromycin in Indonesia

    Rosana Yeva , Puspawati Ni Made Dwi , Kusumawaty Maryam , Massi Muhammad Nasrum , Yasmon Andi , Indriatmi Wresti , Effendi Ida , Kusumawati Raden Lia , Rowawi Rasmia , Sudigdoadi Sunarjati , Pradini Gita Widya , Wiraguna Anak Agung Gde Putra

    … Resistance to azithromycin is widely reported associated with one and/or two point mutations on the 23S rRNA gene but has yet to be described in Indonesia. … pallidum </i>based on A2058G and A2059G point mutations. …

    Japanese Journal of Infectious Diseases, 2021

    J-STAGE 

  • Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients

    Miyake Wataru , Hara Hisao , Takeuchi Fumihiko , Hiroi Yukio , Kato Norihiro , Minemoto Mayu , Hayama Hiromasa , Yamamoto Masaya , Okazaki Toru , Takano Kozue , Mori Kotaro , Okazaki Atsuko , Arakawa Reiko

    … The other case was a 36-year-old male with a heterozygote mutation, p.E334K in myosin binding protein C3 (<i>MYBPC3</i>), who exhibited cardiogenic shock on admission with morphological characteristics of LVNC being most prominent in the apical segment of the LV. … Thus, we point out phenotypic plasticity or undulation as a noticeable element of LVNC in this case report.</p> …

    International Heart Journal 62(6), 1420-1429, 2021

    J-STAGE 

  • Development of EMS-induced Mutagenized Groundnut Population and Discovery of Point Mutations in the <i>ahFAD2</i> and <i>Ara h 1</i> Genes by TILLING

    Karaman Kürşat , Kizil Sibel , Başak Merve , Uzun Bülent , Yol Engin

    … The mutation in <i>ahFAD2B</i> … The other mutation causing amino acid change, glycine to aspartic acid was predicted to affect protein function in <i>ahFAD2A</i>. … We estimated the overall mutation rate to be 1 mutation every 2139 kb. … The mutation frequencies were also 1/317 kb for <i>ahFAD2A</i> …

    Journal of Oleo Science 70(11), 1631-1640, 2021

    J-STAGE 

  • Diverse unintended on-target mutations induced by zygote genome-editing using CRISPR/Cas9 system

    Igarashi Toshime , Yasuhiko Yukuto , Ono Ryuichi , Tachihara Erika , Uchiyama Miki , Takagi Atsuya , Takahashi Yu , Kuwagata Makiko , Kitajima Satoshi

    … Unintended mutation in off-target regions is a major problem of genome editing using the CRISPR/Cas9 system, and it is being reviewed. … However, we found a high frequency and various unintended mutations in the "on-target" region when we generated a "knock-in" mouse with point mutation using this technique to develop a supernumerary rib model. …

    Fundamental Toxicological Sciences 8(5), 161-167, 2021

    J-STAGE 

  • Carcinogenesis as seen from the mutation signature  [in Japanese]

    ISHIKAWA Shumpei

    <p>包括的ながんゲノム解読が進み、変異シグネチャーと呼ばれる変異のパターンと特定の内的・外的発がん要因がリンクすることが知られるようになった。これによりこれまで疫学調査やアンケート等によってしか明らかにすることが難しかった患者の過去の発がん要因の暴露歴や生活歴が、がんゲノムの解読というシングルポイントの測定によって定量的に解析することが可能である。日本や韓国を始めとする東アジア地域は …

    Annual Meeting of the Japanese Society of Toxicology 48.1(0), S20-2, 2021

    J-STAGE 

  • Molecular basis of pulmonary fibrosis by genome analysis of familial pulmonary fibrosis  [in Japanese]

    YASUTOMO Koji

    <p>肺線維症は進行性の線維化により呼吸機能が悪化することにより発症する疾患である。私たちの研究グループは、家族性肺線維症のゲノム解析から疾患の原因変異としてSFTPA1のミスセンス変異を見出した。SFTPA1のミスセンス変異はSFTPA1タンパクの分泌を障害させる機能変異でありそのことが疾患発症の起点と考えられた。マウスのSftpa1遺伝子にヒトと同変異を挿入したSftpa1-KIマ …

    Annual Meeting of the Japanese Society of Toxicology 48.1(0), S23-2, 2021

    J-STAGE 

  • Genome reprogramming-associated point mutations, frequency and mechanisms  [in Japanese]

    ARAKI Ryoko , HOKI Yuko , SUGA Tomo , SUNAYAMA Misato , IMADOME Kaori , KAMIMURA Satoshi , NAKAMURA Miki , FUJITA Mayumi , ABE Masumi

    <p> 分化細胞から身体を構成するほぼすべての細胞に分化させることが可能な多能性幹細胞を創出できるようになり、胚由来のES細胞の使用に伴う倫理的問題が克服され一気に再生医療が現実的になったと考えられている。この細胞系譜転換はゲノム初期化とよばれ、エピゲノムの状態の再編成・変更のみによると考えられていた。実際のゲノム初期化法にはiPS法と核移植(nt)法があり、それぞれ作出された細胞はi …

    Annual Meeting of the Japanese Society of Toxicology 48.1(0), S3-3, 2021

    J-STAGE 

  • Cardiac risk assessment in anti-cancer drugs  [in Japanese]

    TAKAHASHI Hideaki

    <p>HER2阻害剤、PD-1 / PD-L1阻害剤、およびがんドライバー遺伝子変異を標的とするチロシンキナーゼ阻害剤等の抗がん剤の進歩は、緩和的な抗がん剤治療の対象となる進行癌患者から術後抗がん剤治療の対象となる早期癌患者、さらには高齢者から小児の癌患者の予後を改善しました。 </p><p>がん治療の目標には、治癒、生存期間の延長、腫瘍体積の減少、そして重要な …

    Annual Meeting of the Japanese Society of Toxicology 48.1(0), S14-3, 2021

    J-STAGE 

  • Isolating sporulation-deficient (sporeless) mutant of <i>Lentinula edodes</i> and identifying single-nucleotide polymorphism linked to the mutant trait  [in Japanese]

    OBATAKE Yasushi , SHIRAI Nobuki , KAWAI Masataka , MURAGUCHI Hajime , SAKAMOTO Yuichi , MATSUMOTO Teruyuki

    <p>紫外線照射により胞子落下量が元株(野生型)の1/10,000程度に低下したシイタケ胞子欠損性変異体B682を分離した.SEM観察において変異体ヒダ表面には成熟胞子がほとんど認められず,未熟な球状胞子が観察された.変異体の子実体ヒダ組織をギムザ染色したところ,担子器の多くで8個の核が観察され,減数分裂後の担子器内4娘核の体細胞分裂が推察された.検定集団(98115A populat …

    Japanese Journal of Mycology 62(1), 13-23, 2021

    J-STAGE 

  • Vitamin E induces palmitoylation of 67kDa laminin receptor by direct binding .  [in Japanese]

    Okamoto Seika , Shirai Yasuhito , Hayashi Daiki , Adachi Naoko , Varnavas Mouchlis , Ueda Shuji , Yamanoue Minoru , Edward Dennis , Ito Toshiki , Saito Naoaki

    … A point mutation at Cys of 67LR abolished both 67LR palmitoylation and DGKα activation. …

    Proceedings for Annual Meeting of The Japanese Pharmacological Society 94(0), 1-Y-E2-3, 2021

    J-STAGE 

  • Comparative Study of Different Epidermal Growth Factor Receptor (EGFR)-Tyrosine Kinase Inhibitors Affecting Lung Cancer Cell Lines Stably Overexpressing EGFR Mutations

    Ariyama Tomohiro , Kanno Yuichiro , Takizawa Sonomi , Nemoto Kiyomitsu , Ishii Toshihiro

    … mutations such as in-frame exon 19 deletions (Del19) and the exon 21 L858R point mutations (L858R). … Interestingly, canertinib and sapitinib had effects against Del19, Del18, and L861Q mutations and no effect against L858R mutation. …

    BPB Reports 4(1), 12-16, 2021

    J-STAGE 

  • Characterization of JC Polyomavirus Derived from COS-IMRb Cells

    Nukuzuma Souichi , Nukuzuma Chiyoko , Kameoka Masanori , Sugiura Shigeki , Nakamichi Kazuo , Tasaki Takafumi , Hidaka Koushi , Takegami Tsutomu

    … Sequencing analysis of the NCCR of JCPyV after long-term culture revealed that the NCCR of M1-IMRb was conserved in COS-IMRb cells without any point mutation. …

    Japanese Journal of Infectious Diseases 74(1), 48-53, 2021

    J-STAGE  Ichushi Web 

  • P219L substitution in human D-amino acid oxidase impacts the ligand binding and catalytic efficiency

    Rachadech Wanitcha , Kato Yusuke , Abou El-Magd Rabab M. , Shishido Yuji , Kim Soo Hyeon , Sogabe Hirofumi , Maita Nobuo , Yorita Kazuko , Fukui Kiyoshi

    The journal of biochemistry 168(5), 557-567, 2020-11

    Ichushi Web 

  • Thermal Stability Estimation of Single-Domain Antibodies by Molecular Dynamics Simulations  [in Japanese]

    神谷 成敏

    熱測定 47(4), 129-134, 2020-10

Page Top