المؤلفون: Carpinelli, MR, de Vries, ME, Auden, A, Butt, T, Deng, Z, Partridge, DD, Miles, LB, Georgy, SR, Haigh, JJ, Darido, C, Brabletz, S, Brabletz, T, Stemmler, MP, Dworkin, S, Jane, SM

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/251982

المؤلفون: Mathiyalagan, N, Miles, LB, Anderson, PJ, Wilanowski, T, Grills, BL, McDonald, SJ, Keightley, MC, Charzynska, A, Dabrowski, M, Dworkin, S

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/272135

المؤلفون: Miles, LB, Mizoguchi, T, Kikuchi, Y, Verkade, H

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/259018

المؤلفون: Miles, LB, Darido, C, Kaslin, J, Heath, JK, Jane, SM, Dworkin, S

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/257625
NHMRC/1106697

المؤلفون: Miles LB; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Calcinotto V; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Oveissi S; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Serrano RJ; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Sonntag C; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Mulia O; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Lee C; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Clayton, Melbourne, VIC, 3800, Australia. robert.bryson-richardson@monash.edu.

المصدر: Nature communications [Nat Commun] 2024 Jun 12; Vol. 15 (1), pp. 5011. Date of Electronic Publication: 2024 Jun 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Mutagenesis, Insertional*/methods , CRISPR-Cas Systems* , Plasmids*/genetics , Zebrafish*/genetics, Animals ; Genetic Vectors/genetics ; Gene Editing/methods ; Alleles

المؤلفون: Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., van de Locht M; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy., Reunert J; Department of General Pediatrics, University of Münster, Münster, 48149, Germany., McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia., Zaki M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., de Winter JM; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Hoomoedt D; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy., Viaene AN; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Park JH; Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany., Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA., Miles LB; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia., Essawi M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., McModie S; Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia., Ferreira LF; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA., Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., ElBagoury N; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Johnson KR; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Zhang Y; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Laing NG; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia., Hwee DT; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Hartman JJ; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Malik FI; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA., Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Sharaf-Eldin W; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Marquardt T; Department of General Pediatrics, University of Münster, Münster, 48149, Germany., Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.

المصدر: Science translational medicine [Sci Transl Med] 2024 Apr 03; Vol. 16 (741), pp. eadg2841. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/genetics , Sarcomeres*/metabolism, Animals ; Humans ; Calcium/metabolism ; Muscle Contraction ; Muscle, Skeletal/metabolism ; Troponin I/genetics ; Troponin I/metabolism ; Zebrafish/metabolism

المؤلفون: Ruparelia AA; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia.; Department of Anatomy and Physiology, School of Biomedical Sciences, Faculty of Medicine Dentistry and Health Sciences, and.; Centre for Muscle Research, Department of Anatomy and Physiology, University of Melbourne, Melbourne, Victoria, Australia., Montandon M; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia., Merriner J; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia., Huang C; Monash Proteomics and Metabolomics Facility, Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia., Wong SFL; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia., Sonntag C; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia., Hardee JP; Centre for Muscle Research, Department of Anatomy and Physiology, University of Melbourne, Melbourne, Victoria, Australia., Lynch GS; Centre for Muscle Research, Department of Anatomy and Physiology, University of Melbourne, Melbourne, Victoria, Australia., Miles LB; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia., Siegel A; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia., Hall TE; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia., Schittenhelm RB; Monash Proteomics and Metabolomics Facility, Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia., Currie PD; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria, Australia.; EMBL Australia, Victorian Node, Monash University, Clayton, Victoria, Australia.

المصدر: JCI insight [JCI Insight] 2024 Mar 26; Vol. 9 (8). Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish* , SKP Cullin F-Box Protein Ligases*/metabolism , SKP Cullin F-Box Protein Ligases*/genetics , Homeostasis* , Muscle Proteins*/metabolism , Muscle Proteins*/genetics , Muscle, Skeletal*/metabolism , Muscle, Skeletal*/pathology , Muscular Dystrophy, Duchenne*/metabolism , Muscular Dystrophy, Duchenne*/pathology , Muscular Dystrophy, Duchenne*/genetics , Disease Models, Animal* , Endoplasmic Reticulum Chaperone BiP*/metabolism, Animals ; Humans ; Heat-Shock Proteins/metabolism ; Heat-Shock Proteins/genetics ; Zebrafish Proteins/metabolism ; Zebrafish Proteins/genetics ; Endoplasmic Reticulum/metabolism ; Mitochondrial Dynamics

المؤلفون: Fung C; Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia. connie.fung@monash.edu., Miles LB; School of Biological Sciences, Monash University, Clayton, VIC, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Clayton, VIC, Australia., Bird PI; Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2024; Vol. 2750, pp. 19-32.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Proteostasis*/genetics , Perciformes*, Humans ; Animals ; Mice ; CRISPR-Cas Systems/genetics ; Gene Editing ; Zebrafish/genetics ; Animals, Genetically Modified

المؤلفون: Phatak M; Department of Biological Sciences, Tata Institute of Fundamental Research, Mumbai, India., Kulkarni S; Department of Biological Sciences, Tata Institute of Fundamental Research, Mumbai, India., Miles LB; Department of Physiology, Anatomy and Microbiology, La Trobe University, Bundoora, Australia., Anjum N; Center for Biotechnology, A.C. College of Technology, Anna University, Chennai, India., Dworkin S; Department of Physiology, Anatomy and Microbiology, La Trobe University, Bundoora, Australia., Sonawane M; Department of Biological Sciences, Tata Institute of Fundamental Research, Mumbai, India.

المصدر: PLoS genetics [PLoS Genet] 2021 Sep 27; Vol. 17 (9), pp. e1009823. Date of Electronic Publication: 2021 Sep 27 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Endocytosis* , Stress, Physiological*, Epidermal Cells/*metabolism , Zebrafish Proteins/*physiology, Animals ; Epidermal Cells/cytology ; Mutation ; Transcriptome ; Up-Regulation ; Zebrafish/embryology ; Zebrafish/genetics ; Zebrafish Proteins/genetics

المؤلفون: Wood AJ; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia., Lin CH; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.; Institute for Glycomics, Griffith University, Gold Coast, QLD, Australia., Li M; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia., Nishtala K; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.; Institute for Glycomics, Griffith University, Gold Coast, QLD, Australia., Alaei S; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia., Rossello F; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; University of Melbourne Centre for Cancer Research, The University of Melbourne, Melbourne, VIC, Australia., Sonntag C; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia., Hersey L; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia., Miles LB; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; School of Biological Sciences, Monash University, Clayton, VIC, Australia., Krisp C; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia., Dudczig S; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; School of Bio-Sciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia., Fulcher AJ; Monash Micro Imaging Facility, Monash University, Clayton, VIC, Australia., Gibertini S; Muscle Cell Biology Laboratory, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo. Besta' Via Temolo 4, Milano, Italy., Conroy PJ; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Nursing and Health Science, Monash University, Melbourne, VIC, Australia.; Monash Antibody Technologies Facility (MATF), Monash University, Clayton, VIC, Australia., Siegel A; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia., Mora M; Muscle Cell Biology Laboratory, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo. Besta' Via Temolo 4, Milano, Italy., Jusuf P; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia.; School of Bio-Sciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia., Packer NH; Biomolecular Discovery and Design Research Centre, Department of Molecular Sciences, Faculty of Science & Engineering, Macquarie University, Sydney, NSW, Australia.; Institute for Glycomics, Griffith University, Gold Coast, QLD, Australia., Currie PD; Australian Regenerative Medicine Institute (ARMI), Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia. peter.currie@monash.edu.; EMBL Australia, Victorian Node, Faculty of Medicine, Nursing and Health Science, Monash University, Clayton, VIC, Australia. peter.currie@monash.edu.

المصدر: Nature communications [Nat Commun] 2021 May 19; Vol. 12 (1), pp. 2951. Date of Electronic Publication: 2021 May 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Fibronectins/*metabolism , Glycosyltransferases/*metabolism , Muscular Dystrophies/*metabolism , Muscular Dystrophies/*pathology , Muscular Dystrophy, Animal/*metabolism , Muscular Dystrophy, Animal/*pathology , Pentosyltransferases/*metabolism , Zebrafish Proteins/*metabolism, Animals ; Basement Membrane/metabolism ; Basement Membrane/pathology ; Cell Line ; Disease Models, Animal ; Gene Knockout Techniques ; Glycosylation ; Glycosyltransferases/deficiency ; Glycosyltransferases/genetics ; Humans ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophies/genetics ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/metabolism ; Muscular Dystrophies, Limb-Girdle/pathology ; Muscular Dystrophy, Animal/genetics ; Mutation ; Myoblasts, Skeletal/metabolism ; Myoblasts, Skeletal/pathology ; Pentosyltransferases/deficiency ; Pentosyltransferases/genetics ; Phenotype ; Zebrafish ; Zebrafish Proteins/deficiency ; Zebrafish Proteins/genetics

SCR Disease Name: Muscular Dystrophy, Limb-Girdle, Type 2I