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Wyświetlanie 1-20 z 25
Tytuł:
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19 .
Autorzy:
Takafuji S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Mori T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Nishimura N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Yamamoto N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Uemura S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Terui K; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Toki T; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Ito E; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Takahashi Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Matsuo M; Locomotion Biology Research Center, Kobe Gakuin University, Kobe, Japan.
Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
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Źródło:
Pediatric hematology and oncology [Pediatr Hematol Oncol] 2021 Sep; Vol. 38 (6), pp. 515-527. Date of Electronic Publication: 2021 Feb 24.
Typ publikacji:
Case Reports; Clinical Trial; Journal Article; Video-Audio Media
MeSH Terms:
Anemia, Diamond-Blackfan*/genetics
Anemia, Diamond-Blackfan*/metabolism
Mutation*
RNA Splicing*
Ribosomal Proteins*/biosynthesis
Ribosomal Proteins*/genetics
Humans ; Infant, Newborn ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.
Autorzy:
Sugihara H; Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.
Teramoto N; Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.
Nakamura K; Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.
Shiga T; Department of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.
Shirakawa T; Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe, 651-2180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe, 651-2180, Japan.
Matsuo M; Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe, 651-2180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe, 651-2180, Japan.
Ogasawara M; Department of Genome Medicine Development, Medical Genome Center, Kodaira, Tokyo, 187-8502, Japan.; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.
Nishino I; Department of Genome Medicine Development, Medical Genome Center, Kodaira, Tokyo, 187-8502, Japan.; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.
Matsuwaki T; Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.
Nishihara M; Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.
Yamanouchi K; Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2020 Oct 12; Vol. 10 (1), pp. 16385. Date of Electronic Publication: 2020 Oct 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Models, Animal*
Mutation*
Cellular Senescence/*genetics
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Animals ; Cells, Cultured ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase Inhibitor p16/metabolism ; Dystrophin/metabolism ; Humans ; Mesenchymal Stem Cells/metabolism ; Mice ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Dystrophy, Duchenne/metabolism ; Rats ; Regeneration/genetics ; Satellite Cells, Skeletal Muscle/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Intronic Alternative Polyadenylation in the Middle of the DMD Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients.
Autorzy:
Rani AQM; Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.
Yamamoto T; Department of Clinical Laboratory, Kobe University Hospital, Chuo, Kobe 6500017, Japan.
Kawaguchi T; Translational Research Department, Daiichi Sankyo RD Novare Co., Ltd., Edogawa, Tokyo 1348630, Japan.
Maeta K; Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.
Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo, Kobe 6500017, Japan.
Nishio H; Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.
Matsuo M; Research Center for Locomotion Biology, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Nishi, Kobe 6512180, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 May 18; Vol. 21 (10). Date of Electronic Publication: 2020 May 18.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Polyadenylation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Adolescent ; Alternative Splicing ; Child ; Child, Preschool ; Dystrophin/metabolism ; Electrocardiography ; Heart/physiopathology ; Humans ; Introns ; Male ; Muscle, Skeletal/metabolism ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/physiopathology ; Myocardium/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
Autorzy:
Lee T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Takeshima Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kusunoki N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Yagi M; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Matsuo M; Department of Medical Rehabilitation, Kobegakuin University, Kobe, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
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Źródło:
Journal of human genetics [J Hum Genet] 2014 Jan; Vol. 59 (1), pp. 46-50. Date of Electronic Publication: 2013 Nov 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Frequency*
Heterozygote*
Mutation*
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Exons ; Female ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Mothers
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.
Autorzy:
Rani AQ; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, Malaysia.
Sasongko TH
Sulong S
Bunyan D
Salmi AR
Zilfalil BA
Matsuo M
Zabidi-Hussin ZA
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Źródło:
Journal of neurogenetics [J Neurogenet] 2013 Jun; Vol. 27 (1-2), pp. 11-5. Date of Electronic Publication: 2013 Feb 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin/*genetics
Genetic Predisposition to Disease/*genetics
Muscular Dystrophy, Duchenne/*genetics
Mutation/*genetics
Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Creatine Kinase/blood ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Malaysia ; Male ; Muscular Dystrophy, Duchenne/blood ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Transition from positive to neutral in mutation fixation along with continuing rising fitness in thermal adaptive evolution.
Autorzy:
Kishimoto T; Faculty of Science, Toho University, Funabashi, Chiba, Japan.
Iijima L
Tatsumi M
Ono N
Oyake A
Hashimoto T
Matsuo M
Okubo M
Suzuki S
Mori K
Kashiwagi A
Furusawa C
Ying BW
Yomo T
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2010 Oct 21; Vol. 6 (10), pp. e1001164. Date of Electronic Publication: 2010 Oct 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Directed Molecular Evolution*
Mutation*
Temperature*
Escherichia coli/*genetics
Adaptation, Physiological/genetics ; DNA, Bacterial/chemistry ; DNA, Bacterial/genetics ; Escherichia coli/growth & development ; Genome, Bacterial/genetics ; INDEL Mutation ; Polymorphism, Single Nucleotide ; Selection, Genetic ; Sequence Analysis, DNA/methods ; Time Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.
Autorzy:
Sasongko TH
Yusoff S
Lee MJ
Nishioka E
Matsuo M
Nishio H
Pokaż więcej
Corporate Authors:
Gunadi; Department of Public Health and Genetic Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Japan.
Źródło:
Annals of human genetics [Ann Hum Genet] 2008 Mar; Vol. 72 (Pt 2), pp. 288-91.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Protein Conformation*
Axons/*metabolism
Cyclic AMP Response Element-Binding Protein/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
RNA-Binding Proteins/*genetics
Adenine Nucleotides/genetics ; Amino Acid Sequence ; Base Sequence ; Cyclic AMP Response Element-Binding Protein/metabolism ; Female ; Gene Frequency ; Humans ; Introns/genetics ; Male ; Molecular Sequence Data ; Nerve Tissue Proteins/metabolism ; RNA-Binding Proteins/metabolism ; SMN Complex Proteins ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.
Autorzy:
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, and Shinko Hospital, Kobe 650-0017, Kusunokicho 7-5-1, Chuo, Kobe, Hyogo, Japan. />Fu XJ
Kaito H
Kanda K
Yokoyama N
Przybyslaw Krol R
Nakajima T
Kajiyama M
Iijima K
Matsuo M
Pokaż więcej
Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2007 Aug; Vol. 22 (8), pp. 1219-23. Date of Electronic Publication: 2007 Mar 31.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Bartter Syndrome/*genetics
Potassium Channels, Inwardly Rectifying/*genetics
Pseudohypoaldosteronism/*diagnosis
Adolescent ; Bartter Syndrome/blood ; Bartter Syndrome/classification ; Bartter Syndrome/complications ; Bartter Syndrome/metabolism ; Follow-Up Studies ; Homozygote ; Humans ; Hypercalciuria ; Hyperkalemia ; Hyponatremia ; Length of Stay ; Male ; Pedigree ; Pseudohypoaldosteronism/complications
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Autorzy:
Kitamura K; Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 194-8511, Japan. .m-kagaku.co.jp
Yanazawa M
Sugiyama N
Miura H
Iizuka-Kogo A
Kusaka M
Omichi K
Suzuki R
Kato-Fukui Y
Kamiirisa K
Matsuo M
Kamijo S
Kasahara M
Yoshioka H
Ogata T
Fukuda T
Kondo I
Kato M
Dobyns WB
Yokoyama M
Morohashi K
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2002 Nov; Vol. 32 (3), pp. 359-69. Date of Electronic Publication: 2002 Oct 15.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Genetic Linkage*
Mutation*
Genitalia/*abnormalities
Homeodomain Proteins/*genetics
Homeodomain Proteins/*physiology
Prosencephalon/*abnormalities
Testis/*abnormalities
Transcription Factors/*genetics
Transcription Factors/*physiology
X Chromosome/*genetics
Alleles ; Amino Acid Sequence ; Animals ; Apoptosis ; Base Sequence ; Brain/abnormalities ; Brain/pathology ; Bromodeoxyuridine/pharmacology ; Cell Differentiation ; Cell Division ; Cell Movement ; DNA, Complementary/metabolism ; Doublecortin Protein ; Epithelial Cells/metabolism ; Genetic Vectors ; Humans ; Immunohistochemistry ; Male ; Mice ; Mice, Knockout ; Microscopy, Fluorescence ; Models, Genetic ; Molecular Sequence Data ; Neurons/metabolism ; Neurons/pathology ; Phenotype ; Syndrome ; Testis/pathology ; Transfection
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 25

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