Search Results 1-20 of 2803

  • Splicing factors  [in Japanese]

    小川 誠司

    日本臨床 = Japanese journal of clinical medicine 78(1182増刊3), 86-94, 2020-08

  • Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay

    Horinouchi Tomoko , Yamamura Tomohiko , Minamikawa Shogo , Nagano China , Sakakibara Nana , Nakanishi Koichi , Shima Yuko , Morisada Naoya , Ishiko Shinya , Aoto Yuya , Nagase Hiroaki , Takeda Hiroki , Rossanti Rini , Ishimori Shingo , Kaito Hiroshi , Matsuo Masafumi , Iijima Kazumoto , Nozu Kandai

    … Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. … Methods: In this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported pathogenic mutations in the same codon. … Results: The results from our hybrid minigene assay were sufficient to predict splicing abnormalities; …

    Molecular Genetics & Genomic Medicine 8(8), e1342, 2020-08

    IR 

  • Multilateral Bioinformatics Analyses Reveal the Function-Oriented Target Specificities and Recognition of the RNA-Binding Protein SFPQ

    Iida Kei , Hagiwara Masatoshi , Takeuchi Akihide

    … Essential binding was successfully identified in C-rich sequences close to the 5′ splice sites of long introns, which further proposed target recognition mechanism via association between SFPQ and splicing factors during spliceosome assembly. …

    iScience 23(7), 2020-07-24

    IR 

  • Therapeutic target of alternative splicing variant in chemo-resistant breast cancer  [in Japanese]

    眞田 文博 , 谷山 義明 , 藤川 龍弥 , 柴田 佳那 , 森下 竜一

    Precision medicine = プレシジョンメディシン 3(4), 367-370, 2020-04

    Ichushi Web 

  • Molecular mechanisms determining severity in patients with Pierson syndrome

    Minamikawa Shogo , Miwa Saori , Inagaki Tetsuji , Nishiyama Kei , Kaito Hiroshi , Ninchoji Takeshi , Yamamura Tomohiko , Nagano China , Sakakibara Nana , Ishimori Shingo , Hara Shigeo , Yoshikawa Norishige , Hirano Daishi , Harada Ryoko , Hamada Riku , Matsunoshita Natsuki , Nagata Michio , Shima Yuko , Nakanishi Koichi , Nagase Hiroaki , Takeda Hiroki , Morisada Naoya , Iijima Kazumoto , Nozu Kandai

    … However, one mild case possessed a splicing site variant (c.3797 + 5G>A) that should be associated with a severe phenotype. … However, we detected aberrant splicing caused by the creation of a novel splice site by this single-base substitution. …

    Journal of Human Genetics (65), 355-362, 2020-04

    IR 

  • Srsf7 Establishes the Juvenile Transcriptome through Age-Dependent Alternative Splicing in Mice.

    KADOTA Yosuke , JAM Faidruz Azura , YUKIUE Haruka , TERAKADO Ichiro , MORIMUNE Takao , TANO Ayami , TANAKA Yuya , AKAHANE Sayumi , FUKUMURA Mayu , TOOYAMA Ikuo , MORI Masaki , 門田 陽介 , 雪上 晴加 , 寺門 一郎 , 森宗 孝夫 , 田埜 郁実 , 田中 雄也 , 赤羽 紗由美 , 福村 真優 , 遠山 育夫 , 森 雅樹

    … Here, we investigated alternative splicing (AS) events in postnatal growth and elucidated the landscape of age-dependent alternative splicing (ADAS) in C57BL/6 mice. … Our analysis of ADAS in the cerebral cortex, cardiomyocytes, and hepatocytes revealed numerous juvenile-specific splicing isoforms that shape the juvenile transcriptome, which in turn functions as a basis for the highly anabolic status of juvenile cells. …

    iScience 23(3), 100929, 2020-03-27

    IR 

  • Genetic variants that contribute to TKI sensitivity in chronic myeloid leukemia  [in Japanese]

    髙橋 直人

    血液内科 = Hematology 80(3), 326-332, 2020-03

    Ichushi Web 

  • LncRNA-dependent nuclear stress bodies promote intron retention through SR protein phosphorylation

    Ninomiya Kensuke , Adachi Shungo , Natsume Tohru , Iwakiri Junichi , Terai Goro , Asai Kiyoshi , Hirose Tetsuro

    EMBO Journal 39(23), e102729, 2020-02-03

    IR 

  • High expression of soluble CD155 in estrogen receptor-negative breast cancer

    井口 研子 , 市岡 恵美香 , 坂東 裕子 , 渋谷 彰 , 渋谷 和子 , Akiko IGUCHI , Genki Okumura , Emika ICHIOKA , Hiroko Kiyomatsu , Tatsuhiko Ikeda , Hiroko BANDO , Akira SHIBUYA , Kazuko SHIBUYA

    … Unlike mouse tissues, human tissues express a soluble form of CD155 (sCD155), which is a splicing isoform of CD155 lacking the transmembrane region. …

    Breast cancer 27(1), 92-99, 2020-01

    IR 

  • Comprehensive evaluation of pseudo exonic splicing mutations for drug development  [in Japanese]

    HAGIWARA Masatoshi

    … <p>Deep-intronic splicing mutations often cause inclusion of a pseudo exon, which in turn produces a premature stop codon leading to genetical inactivation. … Understanding the mechanism of a disease-related splicing is crucial for finding an effective therapeutic strategy, as characterization of SMN2 exon 7 splicing led to development of Nusinersen for spinal muscular atrophy. …

    Annual Meeting of the Japanese Society of Toxicology 47.1(0), S21-1, 2020

    J-STAGE 

  • The factors involved in increasing arsenite sensitivity in SRSF5 siRNA knockdown HaCaT cells  [in Japanese]

    SUMI Daigo , TAKASE Ai , FUJINAGA Rio , HIMENO Seiichiro

    … In this study, we examined genes whose mRNA splicing is impaired in SRSF5-reduced HaCaT cells, and tried to identify factors related to As (III) sensitivity.</p><p>[Methods] Cells: HaCaT cells, siRNA introduction: lipofection method. … Examination of mRNA splicing abnormality by RNA-seq revealed that the expression of 155 gene groups was reduced by SRSF5 siRNA transfection. …

    Annual Meeting of the Japanese Society of Toxicology 47.1(0), P-193, 2020

    J-STAGE 

  • Novel migraine treatment with CGRP-related monoclonal antibodies  [in Japanese]

    M.D. Ph.D. Shibata Mamoru

    … Calcitonin gene-related peptide (CGRP) was originally discovered as a 37-amino acid neuropeptide derived from a calcitonin gene splicing variant. …

    Rinsho Shinkeigaku, 2020

    J-STAGE 

  • A Novel <i>PAFAH1B1</i> Splicing Variant Identified in a Patient with Classical Lissencephaly

    Yanagishita Tomoe , Eto Kaoru , Yamamoto-Shimojima Keiko , Imaizumi Taichi , Nagata Satoru , Yamamoto Toshiyuki

    … We identified a novel PAFAH1B1 splicing variant (NM_000430.3:c.118-2A>G) in a female patient with classical lissencephaly manifesting as developmental delay, growth failure, and epilepsy. … To confirm whether this variant is in fact related to splicing error, RNA expression was analyzed. …

    Tokyo Women's Medical University Journal, 2020

    J-STAGE 

  • Evolution of neural sex-determination system in insects: insights from basal direct-developing insects  [in Japanese]

    WATANABE Takayuki

    … brain is regulated under the control of the sex-specific splicing cascade and sex-specific gene products of two transcription factor genes, <i>fruitless</i> …

    Hikaku seiri seikagaku(Comparative Physiology and Biochemistry) 37(2), 130-138, 2020

    J-STAGE 

  • Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia

    Wang Hao , Zhou Zhou , Yang Hang , Liu Zhaohui , Cui Kai , Zhang Yinhui , Zhang Yujing , Zhao Kun , Yin Kunlun , Li Wenke

    … variants of CNVs and splicing and nonsense had increased low-density lipoprotein cholesterol levels when compared with those who carried missense variants.<b> …

    Journal of Atherosclerosis and Thrombosis, 2020

    J-STAGE 

  • Ring sideroblasts and iron metabolism  [in Japanese]

    FUJIWARA Tohru

    … Furthermore, SAs are associated with myelodysplastic syndrome (idiopathic SA), strongly correlating with specific somatic mutations in splicing factor 3b subunit 1 (<i>SF3B1</i>), which is involved in the RNA splicing machinery. …

    Rinsho Ketsueki 61(7), 770-778, 2020

    J-STAGE 

  • RNA-binding protein Ptbp1 regulates alternative splicing and transcriptome in spermatogonia and maintains spermatogenesis in concert with Nanos3

    SENOO Manami , IKAWA Masahito , OZAWA Manabu , HOZOJI Hiroshi , ISHIKAWA-YAMAUCHI Yu , TAKIJIRI Takashi , OHTA Sho , UKAI Tomoyo , KABATA Mio , YAMAMOTO Takuya , YAMADA Yasuhiro

    … <p>PTBP1, a well-conserved RNA-binding protein, regulates cellular development by tuning posttranscriptional mRNA modification such as alternative splicing (AS) or mRNA stabilization. … These data implied that PTBP1 regulates alternative splicing and transcriptome in spermatogonia under different molecular pathways, and contributes spermatogenesis, at least in part, in concert with NANOS3.</p> …

    Journal of Reproduction and Development, 2020

    J-STAGE 

  • Aberrant RNA splicing and development of hematological malignancies  [in Japanese]

    YOSHIMI Akihide

    … <p>Dysregulation of pre-mRNA splicing and transcription is a key step in gene expression control in patients with leukemia. … Herein, we discuss the occurrence of frequent overlap of mutations affecting epigenetic regulation and pre-mRNA splicing in patients with leukemia, which together promote leukemogenesis through coordinated effects on the epigenome and pre-mRNA splicing. …

    Rinsho Ketsueki 61(6), 634-642, 2020

    J-STAGE 

  • Understanding and therapeutic targeting of aberrant mRNA splicing mechanisms in oncogenesis  [in Japanese]

    TANAKA Atsushi , KOBAYASHI Susumu , XIAO Muran , INOUE Daichi

    … <p>Splicing factor 3b subunit 1 (<i>SF3B1</i>) is the most commonly mutated RNA splicing factor identified in myelodysplastic syndrome (MDS), chronic lymphocytic leukemia, and uveal melanoma. … Here, we integrated pan-cancer RNA sequencing to identify mutant SF3B1-dependent aberrant splicing events with a positive CRISPR screen to prioritize alterations that functionally promote oncogenesis. …

    Rinsho Ketsueki 61(6), 643-650, 2020

    J-STAGE 

  • A CASE OF RIGHT-SIDED COLITIS SHOWING COBBLESTONE-LIKE APPEARANCE AND MULTIPLE ULCERS IN A PATIENT WITH FAMILIAL MEDITERRANEAN FEVER  [in Japanese]

    HOSOKAWA Yuuei , OSAMURA Yoshiyuki , DEGUCHI Emi , ASAKURA Hitoshi , YOSHIMURA Tubasa , NAGATA Shunsuke , KANZAKI Takuma , SOMEYA Gou , ICHIKAWA Takeshi , MATSUI Naruaki

    … Gene analysis showed variations of the MEFV gene in the exon 3 and exon 8 splicing donor sites. …

    GASTROENTEROLOGICAL ENDOSCOPY 62(6), 706-711, 2020

    J-STAGE 

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