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Tytuł:
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
Autorzy:
Xie Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Liu C; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Yu H; Department of Clinical Laboratory, Peking University First Hospital, Beijing, 100034, China.
Xie Z; Department of Epidemiology and Biostatistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, 610041, China.
Sun C; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Hu X; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Bai L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wei L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Sun P; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhao Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhang W; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wang Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Meng L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
Yuan Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 14; Vol. 19 (1), pp. 123. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Mutation, Missense/genetics ; RNA, Messenger/genetics ; Sarcoglycans/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial Transplantation Therapy Ameliorates Muscular Dystrophy in mdx Mouse Model.
Autorzy:
Dubinin MV; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.; Prokhorov General Physics Institute, Russian Academy of Sciences, Vavilov St. 38, 119991 Moscow, Russia.
Mikheeva IB; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.
Stepanova AE; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Igoshkina AD; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Cherepanova AA; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Semenova AA; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Sharapov VA; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Kireev II; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991 Moscow, Russia.
Belosludtsev KN; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.
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Źródło:
Biomolecules [Biomolecules] 2024 Mar 07; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 07.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/pathology
Animals ; Mice ; Mice, Inbred mdx ; Calcium/metabolism ; Quality of Life ; Muscle, Skeletal/metabolism ; Mitochondria/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of CD90/Thy-1 as a crucial molecular signature for myogenic differentiation in human urine-derived cells through single-cell RNA sequencing.
Autorzy:
Kunitake K; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.; Department of NCNP Brain Physiology and Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Motohashi N; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Inoue T; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan.
Suzuki Y; Laboratory of Systems Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Aoki Y; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan. .; Department of NCNP Brain Physiology and Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 28; Vol. 14 (1), pp. 2329. Date of Electronic Publication: 2024 Jan 28.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/pathology
Humans ; Myosin Heavy Chains/metabolism ; Muscle Fibers, Skeletal/metabolism ; Oligonucleotides, Antisense/genetics ; Sequence Analysis, RNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Establishment of a Triple Quadrupole HPLC-MS Quantitation Method for Dystrophin Protein in Mouse and Human Skeletal Muscle.
Autorzy:
Tominari T; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Takatoya M; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Matsubara T; Life Science Research Center, Shimadzu Corporation, Nakagyo, Kyoto 604-8511, Japan.
Matsunobe M; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Arai D; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Matsumoto C; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Hirata M; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Yoshinouchi S; Cooperative Major of Advanced Health Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Miyaura C; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
Itoh Y; Inada Research Unit, Institute of Global Innovation Research, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.; Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford OX3 7FY, UK.
Komaki H; Translational Medical Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Takeda S; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.
Aoki Y; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.
Inada M; Department of Biotechnology and Life Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.; Cooperative Major of Advanced Health Science, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.; Inada Research Unit, Institute of Global Innovation Research, Tokyo University of Agriculture and Technology, Koganei, Tokyo 184-8588, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 25; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 25.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*
Animals ; Mice ; Humans ; Liquid Chromatography-Mass Spectrometry ; Muscle, Skeletal ; Muscle Proteins ; Mice, Knockout ; Mice, Transgenic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Electrical impedance myography detects dystrophin-related muscle changes in mdx mice.
Autorzy:
Hiyoshi T; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Zhao F; Center of Excellence for Imaging, Preclinical and Translational Sciences, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Baba R; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Hirakawa T; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Kuboki R; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Suzuki K; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Tomimatsu Y; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
O'Donnell P; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Han S; Neuroscience Therapeutic Area Unit, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Zach N; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Nakashima M; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2023 Nov 18; Vol. 13 (1), pp. 19. Date of Electronic Publication: 2023 Nov 18.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/diagnostic imaging
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/pathology
Mice ; Animals ; Mice, Inbred mdx ; Electric Impedance ; Mice, Inbred C57BL ; Muscle, Skeletal/metabolism ; Morpholinos/pharmacology ; Morpholinos/therapeutic use ; Myography ; Biomarkers
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.
Autorzy:
Falzarano MS; Department of Medical Sciences, Unit of Medical Genetics, University of Ferrara, Ferrara, Italy.
Mietto M; Department of Medical Sciences, Unit of Medical Genetics, University of Ferrara, Ferrara, Italy.
Fortunato F; Department of Medical Sciences, Unit of Medical Genetics, University of Ferrara, Ferrara, Italy.
Farnè M; Department of Medical Sciences, Unit of Medical Genetics, University of Ferrara, Ferrara, Italy.
Martini F; Department of Medical Sciences, Section of Experimental Medicine, University of Ferrara, Ferrara, Italy.
Ala P; Dubowitz Neuromuscular Centre and National Institute for Health Research, Great Ormond Street Institute of Child Health, Biomedical Research Centre, University College London, London, UK.
Selvatici R; Department of Medical Sciences, Unit of Medical Genetics, University of Ferrara, Ferrara, Italy.
Muntoni F; Dubowitz Neuromuscular Centre and National Institute for Health Research, Great Ormond Street Institute of Child Health, Biomedical Research Centre, University College London, London, UK.
Ferlini A; Department of Medical Sciences, Unit of Medical Genetics, University of Ferrara, Ferrara, Italy. .; Dubowitz Neuromuscular Centre and National Institute for Health Research, Great Ormond Street Institute of Child Health, Biomedical Research Centre, University College London, London, UK. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 24; Vol. 13 (1), pp. 15942. Date of Electronic Publication: 2023 Sep 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin*/genetics
Muscle, Skeletal*
Humans ; RNA, Messenger/genetics ; Cytoplasm ; RNA ; Biopsy ; In Situ Hybridization
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Nanoparticles systemically biodistribute to regenerating skeletal muscle in DMD.
Autorzy:
Hicks MR; Department of Microbiology, Immunology and Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Eli and Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, Los Angeles, CA, USA.; Department of Physiology and Biophysics, University of California Irvine, Irvine, CA, USA.
Liu X; Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; California Nanosystems Institute at UCLA, Los Angeles, CA, USA.; Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, Zhejiang, China.
Young CS; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; MyoGene Bio, San Diego, CA, USA.
Saleh K; Department of Microbiology, Immunology and Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Ji Y; Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jiang J; Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; California Nanosystems Institute at UCLA, Los Angeles, CA, USA.; Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, 310022, Zhejiang, China.
Emami MR; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Mokhonova E; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Spencer MJ; Eli and Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, Los Angeles, CA, USA. .; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. .
Meng H; Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. .; California Nanosystems Institute at UCLA, Los Angeles, CA, USA. .; CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, Beijing, China. .
Pyle AD; Department of Microbiology, Immunology and Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. .; Eli and Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, Los Angeles, CA, USA. .
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Źródło:
Journal of nanobiotechnology [J Nanobiotechnology] 2023 Aug 29; Vol. 21 (1), pp. 303. Date of Electronic Publication: 2023 Aug 29.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*
Muscle, Skeletal*
Animals ; Mice ; Tissue Distribution ; Mice, Inbred mdx ; Regeneration
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Accumulation of Dystrophin-Positive Muscle Fibers and Improvement of Neuromuscular Junctions in mdx Mouse Muscles after Bone Marrow Transplantation under Different Conditions.
Autorzy:
Sokolova AV; Institute of Cytology, Russian Academy of Sciences, 194064 Saint-Petersburg, Russia.
Domnina AP; Institute of Cytology, Russian Academy of Sciences, 194064 Saint-Petersburg, Russia.
Mikhailov VM; Institute of Cytology, Russian Academy of Sciences, 194064 Saint-Petersburg, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 17; Vol. 24 (10). Date of Electronic Publication: 2023 May 17.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/genetics
Mice ; Animals ; Mice, Inbred mdx ; Bone Marrow Transplantation ; Muscle Fibers, Skeletal/metabolism ; Neuromuscular Junction/metabolism ; Muscle, Skeletal/metabolism ; Disease Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.
Autorzy:
Egorova TV; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.; Marlin Biotech LLC, Sochi 354340, Russia.
Galkin II; Marlin Biotech LLC, Sochi 354340, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.
Velyaev OA; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Vassilieva SG; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Savchenko IM; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Loginov VA; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Dzhenkova MA; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Korshunova DS; Core Facilities, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Kozlova OS; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.
Ivankov DN; Center for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, Moscow 121205, Russia.
Polikarpova AV; Laboratory of Modeling and Therapy of Hereditary Diseases, Institute of Gene Biology Russian Academy of Sciences, Moscow 119334, Russia.; Marlin Biotech LLC, Sochi 354340, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 23; Vol. 24 (11). Date of Electronic Publication: 2023 May 23.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/metabolism
Mice ; Animals ; Mice, Inbred CBA ; Phenotype ; Exons/genetics ; Gene Deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rapid restitution of contractile dysfunction by synthetic copolymers in dystrophin-deficient single live skeletal muscle fibers.
Autorzy:
Hahn D; Department of Integrative Biology & Physiology, Medical School, University of Minnesota, 6-125 Jackson Hall, 321 Church Street SE, Minneapolis, MN, 55455, USA.
Quick JD; Department of Integrative Biology & Physiology, Medical School, University of Minnesota, 6-125 Jackson Hall, 321 Church Street SE, Minneapolis, MN, 55455, USA.
Thompson BR; Department of Integrative Biology & Physiology, Medical School, University of Minnesota, 6-125 Jackson Hall, 321 Church Street SE, Minneapolis, MN, 55455, USA.
Crabtree A; Chemical Engineering & Materials Science, University of Minnesota, 151 Amundson Hall, 421 Washington Avenue SE, Minneapolis, MN, 55455, USA.
Hackel BJ; Chemical Engineering & Materials Science, University of Minnesota, 151 Amundson Hall, 421 Washington Avenue SE, Minneapolis, MN, 55455, USA.
Bates FS; Chemical Engineering & Materials Science, University of Minnesota, 151 Amundson Hall, 421 Washington Avenue SE, Minneapolis, MN, 55455, USA.
Metzger JM; Department of Integrative Biology & Physiology, Medical School, University of Minnesota, 6-125 Jackson Hall, 321 Church Street SE, Minneapolis, MN, 55455, USA. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2023 May 19; Vol. 13 (1), pp. 9. Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/metabolism
Male ; Animals ; Mice ; Mice, Inbred mdx ; Muscle Fibers, Skeletal/metabolism ; Muscle, Skeletal/metabolism ; Muscle Contraction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.
Autorzy:
Codina A; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Biobank, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Roldán M; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Confocal Microscopy and Cellular Imaging Unit, Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Ortez C; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Planas R; Institut de Robòtica i Informàtica Industrial, Technical University of Catalonia (UPC) and the Spanish Council for Scientific Research (CSIC) Llorens i Artigas 4-6, 08028 Barcelona, Spain.
Matalonga L; CNAG-CRG Centro Nacional de Análisis Genomico (CNAG)-Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, 08028 Barcelona, Spain.
Cuadras D; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Statistics Department, Fundació Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Carrera L; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Exposito J; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Marquez J; Biobank, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Jimenez-Mallebrera C; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
M Porta J; Institut de Robòtica i Informàtica Industrial, Technical University of Catalonia (UPC) and the Spanish Council for Scientific Research (CSIC) Llorens i Artigas 4-6, 08028 Barcelona, Spain.
Nascimento A; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Jou C; Neuromuscular Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Biobank, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.; Pathology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 28; Vol. 24 (7). Date of Electronic Publication: 2023 Mar 28.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/diagnostic imaging
Muscular Dystrophy, Duchenne*/metabolism
Humans ; Female
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Dystrophin Exon-52 Deleted Miniature Pig Model of Duchenne Muscular Dystrophy and Evaluation of Exon Skipping.
Autorzy:
Echigoya Y; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Laboratory of Biomedical Science, Department of Veterinary Medicine, College of Bioresource Sciences, Nihon University, Kanagawa 252-0880, Japan.
Trieu N; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Microscopy & Microanalysis Facility, University of New Brunswick, Fredericton, NB E3A 5A3, Canada.
Duddy W; Northern Ireland Centre for Stratified Medicine, Altnagelvin Hospital Campus, Ulster University, Londonderry BT47 6SB, UK.
Moulton HM; Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA.
Yin H; Department of Cell Biology, School of Medical Technology, Tianjin Medical University, Qixiangtai Road, Heping District, Tianjin 300070, China.
Partridge TA; Research Center for Genetic Medicine, Children's National Medical Center, Department of Integrative Systems Biology, George Washington University School of Medicine, Washington, DC 20010, USA.
Hoffman EP; School of Pharmacy and Pharmaceutical Sciences, Binghamton University, State University of New York, Binghamton, NY 13902, USA.
Kornegay JN; College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843, USA.
Rohret FA; Precigen Exemplar, 2656 Crosspark Rd. STE 100, Coralville, IA 52241, USA.
Rogers CS; Precigen Exemplar, 2656 Crosspark Rd. STE 100, Coralville, IA 52241, USA.
Yokota T; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 02; Vol. 22 (23). Date of Electronic Publication: 2021 Dec 02.
Typ publikacji:
Journal Article
MeSH Terms:
Exons*
Dystrophin/*genetics
Muscle, Skeletal/*pathology
Muscular Dystrophy, Duchenne/*genetics
Animals ; Animals, Genetically Modified ; Dependovirus/genetics ; Disease Models, Animal ; Dystrophin-Associated Proteins/genetics ; Dystrophin-Associated Proteins/metabolism ; Female ; Gene Deletion ; Male ; Muscle Fibers, Skeletal/pathology ; Nuclear Transfer Techniques ; Oligonucleotides, Antisense/genetics ; Sarcolemma/metabolism ; Swine ; Swine, Miniature
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.
Autorzy:
d'Apolito M; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Ranaldi A; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Santoro F; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
Cannito S; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Gravina M; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.
Santacroce R; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Ragnatela I; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.
Margaglione A; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
D'Andrea G; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Casavecchia G; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
Brunetti ND; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
Margaglione M; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 28; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Case Reports
MeSH Terms:
Cardiomyopathy, Dilated*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Female ; Adult ; Child ; Dystrophin/genetics ; Mothers
SCR Disease Name:
Dmd-Associated Dilated Cardiomyopathy
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.
Autorzy:
Golli T; Department of Child, Adolescent and Developmental Neurology, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Juříková L; Department of Pediatric Neurology, Faculty of Medicine, University Hospital Brno, Masaryk University in Brno, Brno, Moravia, Czech Republic.
Sejersen T; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.
Dixon C; MASS Team, Suite 99, 95 Mortimer Street, London, W1W 7GB, UK. .
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Źródło:
BMC neurology [BMC Neurol] 2024 Feb 21; Vol. 24 (1), pp. 73. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Oxadiazoles*
Child ; Humans ; Codon, Nonsense ; Greece ; Sweden ; Israel ; Consensus ; Dystrophin/genetics ; Europe, Eastern
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Multiomic characterization of disease progression in mice lacking dystrophin.
Autorzy:
Signorelli M; Mathematical Institute, Leiden University, Leiden, The Netherlands.
Tsonaka R; Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands.
Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Spitali P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło:
PloS one [PLoS One] 2023 Mar 31; Vol. 18 (3), pp. e0283869. Date of Electronic Publication: 2023 Mar 31 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/pathology
Mice ; Animals ; Mice, Inbred mdx ; Multiomics ; Muscle, Skeletal/metabolism ; Disease Progression ; Disease Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Full-length human dystrophin on human artificial chromosome compensates for mouse dystrophin deficiency in a Duchenne muscular dystrophy mouse model.
Autorzy:
Hiramuki Y; Chromosome Engineering Research Center, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Abe S; Trans Chromosomics Inc., 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Uno N; Chromosome Engineering Research Center, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.; Department of Chromosome Biomedical Engineering, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.; Laboratory of Bioengineering, Faculty of Life Sciences, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan.
Kazuki K; Chromosome Engineering Research Center, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Takata S; Department of Chromosome Biomedical Engineering, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Miyamoto H; Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.; Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Takayama H; Trans Chromosomics Inc., 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Morimoto K; Trans Chromosomics Inc., 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Takehara S; Trans Chromosomics Inc., 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Osaki M; Chromosome Engineering Research Center, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.; Division of Experimental Pathology, Department of Functional Morphology, Faculty of Medicine, Tottori University, Yonago, Tottori, 683‑8503, Japan.
Tanihata J; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.; Department of Cell Physiology, The Jikei University School of Medicine, 3-25-8, Nishi-shinbashi, Minato-ku, Tokyo, 105-8461, Japan.
Takeda S; Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.
Tomizuka K; Laboratory of Bioengineering, Faculty of Life Sciences, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan.
Oshimura M; Trans Chromosomics Inc., 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan.
Kazuki Y; Chromosome Engineering Research Center, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan. .; Department of Chromosome Biomedical Engineering, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan. .; Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan. .; Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan. .; Department of Chromosome Biomedical Engineering, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683-8503, Japan. .; Chromosome Engineering Research Group, The Exploratory Research Center on Life and Living Systems (ExCELLS), National Institutes of Natural Sciences, 5-1 Higashiyama, Myodaiji, Okazaki, Aichi, 444-8787, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2023 Mar 16; Vol. 13 (1), pp. 4360. Date of Electronic Publication: 2023 Mar 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Artificial, Human*/genetics
Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/metabolism
Animals ; Humans ; Mice ; Disease Models, Animal ; Mice, Inbred mdx ; Muscle, Skeletal/metabolism ; Sarcolemma/metabolism
Czasopismo naukowe
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Tytuł:
Identification of Novel Gene Regulatory Networks for Dystrophin Protein in Vascular Smooth Muscle Cells by Single-Nuclear Transcriptome Analysis.
Autorzy:
Shen Y; Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Kim IM; Department of Anatomy, Cell Biology and Physiology, School of Medicine, Indiana University, Indianapolis, IN 46202, USA.
Tang Y; Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
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Źródło:
Cells [Cells] 2023 Mar 14; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 14.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Dystrophin*/metabolism
Muscle, Smooth, Vascular*
Muscular Dystrophy, Duchenne*/metabolism
Muscular Dystrophy, Duchenne*/pathology
Animals ; Mice ; Anions ; Cations ; Gene Expression Profiling ; Gene Regulatory Networks ; Mice, Inbred mdx ; RNA, Small Nuclear
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effect of Large-Conductance Calcium-Dependent K Channel Activator NS1619 on Function of Mitochondria in the Heart of Dystrophin-Deficient Mice.
Autorzy:
Dubinin MV; Mari State University, Yoshkar-Ola, 424001, Mari El, Russia. .
Starinets VS; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Pushchino, Moscow Region, 142290, Russia.
Chelyadnikova YA; Mari State University, Yoshkar-Ola, 424001, Mari El, Russia.
Belosludtseva NV; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Pushchino, Moscow Region, 142290, Russia.
Mikheeva IB; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Pushchino, Moscow Region, 142290, Russia.
Penkina DK; Mari State University, Yoshkar-Ola, 424001, Mari El, Russia.
Igoshkina AD; Mari State University, Yoshkar-Ola, 424001, Mari El, Russia.
Talanov EY; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Pushchino, Moscow Region, 142290, Russia.
Kireev II; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, 119991, Russia.
Zorov DB; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, 119991, Russia.
Belosludtsev KN; Mari State University, Yoshkar-Ola, 424001, Mari El, Russia.; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Pushchino, Moscow Region, 142290, Russia.
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Źródło:
Biochemistry. Biokhimiia [Biochemistry (Mosc)] 2023 Feb; Vol. 88 (2), pp. 189-201.
Typ publikacji:
Journal Article
MeSH Terms:
Dystrophin*/genetics
Dystrophin*/metabolism
Calcium*/metabolism
Mice ; Animals ; Mice, Inbred mdx ; Benzimidazoles/pharmacology ; Benzimidazoles/metabolism ; Mitochondria, Heart/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.
Autorzy:
Shen J; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China. .
Ding T; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Sun X; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Yang J; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Zhang Y; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Wang J; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Ge M; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Xu H; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Xie J; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Wang F; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Diao F; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China. phenix_.
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Źródło:
BMC genomics [BMC Genomics] 2024 Mar 19; Vol. 25 (1), pp. 292. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/diagnosis
Humans ; Male ; Dystrophin/genetics ; Exons ; Genomics ; Protein Isoforms/genetics
Czasopismo naukowe
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Wyświetlanie 1-20 z 8179

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