James Dowling Program in Genetics & Genome Biology The Hospital for Sick Children Biography Publications Institution JoVE Articles James Dowling has not added a biography. If you are James Dowling and would like to personalize this page please email our Author Liaison for assistance. Publications Leiomodin-3 Dysfunction Results in Thin Filament Disorganization and Nemaline Myopathy The Journal of Clinical Investigation. Jan, 2015 | Pubmed ID: 25654555 X-linked Myopathy with Excessive Autophagy: a Failure of Self-eating Acta Neuropathologica. Mar, 2015 | Pubmed ID: 25644398 Discovery of Potent KIFC1 Inhibitors Using a Method of Integrated High-throughput Synthesis and Screening Journal of Medicinal Chemistry. Dec, 2014 | Pubmed ID: 25458601 Homozygous Splice Mutation in CWF19L1 in a Turkish Family with Recessive Ataxia Syndrome Neurology. Dec, 2014 | Pubmed ID: 25361784 Leiomodin-3 Dysfunction Results in Thin Filament Disorganization and Nemaline Myopathy The Journal of Clinical Investigation. Nov, 2014 | Pubmed ID: 25250574 The Intracellular Ca²⁺ Channel MCOLN1 is Required for Sarcolemma Repair to Prevent Muscular Dystrophy Nature Medicine. Oct, 2014 | Pubmed ID: 25216637 Malignant Hyperthermia and the Clinical Significance of Type-1 Ryanodine Receptor Gene (RYR1) Variants: Proceedings of the 2013 MHAUS Scientific Conference Canadian Journal of Anaesthesia = Journal Canadien D'anesthésie. Nov, 2014 | Pubmed ID: 25189431 Triadopathies: an Emerging Class of Skeletal Muscle Diseases Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Oct, 2014 | Pubmed ID: 25168790 Fluoxetine Prevents Dystrophic Changes in a Zebrafish Model of Duchenne Muscular Dystrophy Human Molecular Genetics. Sep, 2014 | Pubmed ID: 24760771 Conditional Knockout of Pik3c3 Causes a Murine Muscular Dystrophy The American Journal of Pathology. Jun, 2014 | Pubmed ID: 24726497 Membrane-myofibril Cross-talk in Myofibrillogenesis and in Muscular Dystrophy Pathogenesis: Lessons from the Zebrafish Frontiers in Physiology. 2014 | Pubmed ID: 24478725 Approach to the Diagnosis of Congenital Myopathies Neuromuscular Disorders : NMD. Feb, 2014 | Pubmed ID: 24456932 Structure and Property Based Design of Pyrazolo[1,5-a]pyrimidine Inhibitors of CK2 Kinase with Activity in Vivo ACS Medicinal Chemistry Letters. Aug, 2013 | Pubmed ID: 24900749 Impaired Embryonic Motility in Dusp27 Mutants Reveals a Developmental Defect in Myofibril Structure Disease Models & Mechanisms. Nov, 2013 | Pubmed ID: 24203884 Defective Tubulation Associated with the Myopathy Causing S619L DNM2 Mutation Disease Models & Mechanisms. Oct, 2013 | Pubmed ID: 24135484 Transcriptional Changes and Developmental Abnormalities in a Zebrafish Model of Myotonic Dystrophy Type 1 Disease Models & Mechanisms. Oct, 2013 | Pubmed ID: 24092878 Murine Fig4 is Dispensable for Muscle Development but Required for Muscle Function Skeletal Muscle. Sep, 2013 | Pubmed ID: 24004519 Titin and Centronuclear Myopathy: The Tip of the Iceberg for TTN-ic Mutations? Neurology. Oct, 2013 | Pubmed ID: 23975873 Genotype-phenotype Correlations in Recessive RYR1-related Myopathies Orphanet Journal of Rare Diseases. 2013 | Pubmed ID: 23919265 Kindlin-2 Regulates Hemostasis by Controlling Endothelial Cell-surface Expression of ADP/AMP Catabolic Enzymes Via a Clathrin-dependent Mechanism Blood. Oct, 2013 | Pubmed ID: 23896409 Swimming into Prominence: the Zebrafish As a Valuable Tool for Studying Human Myopathies and Muscular Dystrophies The FEBS Journal. Jun, 2013 | Pubmed ID: 23809187 Stac3 is a Component of the Excitation-contraction Coupling Machinery and Mutated in Native American Myopathy Nature Communications. 2013 | Pubmed ID: 23736855 Severe Congenital RYR1-associated Myopathy: the Expanding Clinicopathologic and Genetic Spectrum Neurology. Apr, 2013 | Pubmed ID: 23553484 A Novel Mutation Expands the Genetic and Clinical Spectrum of MYH7-related Myopathies Neuromuscular Disorders : NMD. May, 2013 | Pubmed ID: 23478172 Two Dynamin-2 Genes Are Required for Normal Zebrafish Development PloS One. 2013 | Pubmed ID: 23418470 Novel Deletion of Lysine 7 Expands the Clinical, Histopathological and Genetic Spectrum of TPM2-related Myopathies Brain : a Journal of Neurology. Feb, 2013 | Pubmed ID: 23413262 Neuromuscular Junction Abnormalities in DNM2-related Centronuclear Myopathy Journal of Molecular Medicine (Berlin, Germany). Jun, 2013 | Pubmed ID: 23338057 Potent and Selective Inhibitors of CK2 Kinase Identified Through Structure-Guided Hybridization ACS Medicinal Chemistry Letters. Apr, 2012 | Pubmed ID: 24900464 Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy Autophagy. Apr, 2012 | Pubmed ID: 22966490 Neuromuscular Effects of G93A-SOD1 Expression in Zebrafish Molecular Neurodegeneration. 2012 | Pubmed ID: 22938571 External and Internal Influences on Muscle Pathology Archives of Pathology & Laboratory Medicine. Aug, 2012 | Pubmed ID: 22849742 Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores American Journal of Human Genetics. Aug, 2012 | Pubmed ID: 22818856 Discovery of Novel Benzylidene-1,3-thiazolidine-2,4-diones As Potent and Selective Inhibitors of the PIM-1, PIM-2, and PIM-3 Protein Kinases Bioorganic & Medicinal Chemistry Letters. Jul, 2012 | Pubmed ID: 22727640 Myotubular Myopathy and the Neuromuscular Junction: a Novel Therapeutic Approach from Mouse Models Disease Models & Mechanisms. Nov, 2012 | Pubmed ID: 22645112 Consensus Statement on Standard of Care for Congenital Myopathies Journal of Child Neurology. Mar, 2012 | Pubmed ID: 22431881 Oxidative Stress and Successful Antioxidant Treatment in Models of RYR1-related Myopathy Brain : a Journal of Neurology. Apr, 2012 | Pubmed ID: 22418739 Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-phenotype Correlation in Autosomal Dominant Centronuclear Myopathy Human Mutation. Jun, 2012 | Pubmed ID: 22396310 Congenital Myopathies: an Update Current Neurology and Neuroscience Reports. Apr, 2012 | Pubmed ID: 22392505 Quality of Life and Autonomy in Emerging Adults with Early-onset Neuromuscular Disorders Journal of Genetic Counseling. Oct, 2012 | Pubmed ID: 22367485 A Novel Approach to Study Motor Neurons from Zebrafish Embryos and Larvae in Culture Journal of Neuroscience Methods. Jan, 2012 | Pubmed ID: 22285259 182nd ENMC International Workshop: RYR1-related Myopathies, 15-17th April 2011, Naarden, The Netherlands Neuromuscular Disorders : NMD. May, 2012 | Pubmed ID: 22226685 Neb: a Zebrafish Model of Nemaline Myopathy Due to Nebulin Mutation Disease Models & Mechanisms. May, 2012 | Pubmed ID: 22159874 Modeling the Human MTM1 P.R69C Mutation in Murine Mtm1 Results in Exon 4 Skipping and a Less Severe Myotubular Myopathy Phenotype Human Molecular Genetics. Feb, 2012 | Pubmed ID: 22068590 Prevalence of Congenital Myopathies in a Representative Pediatric United States Population Annals of Neurology. Oct, 2011 | Pubmed ID: 22028225 Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J PLoS Genetics. Jun, 2011 | Pubmed ID: 21655088 King-Denborough Syndrome with and Without Mutations in the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Neuromuscular Disorders : NMD. Jun, 2011 | Pubmed ID: 21514828 Impaired Neuromuscular Transmission and Response to Acetylcholinesterase Inhibitors in Centronuclear Myopathies Neuromuscular Disorders : NMD. Jun, 2011 | Pubmed ID: 21440438 The Integrin Coactivator Kindlin-2 Plays a Critical Role in Angiogenesis in Mice and Zebrafish Blood. May, 2011 | Pubmed ID: 21378273 Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance PLoS Genetics. 2011 | Pubmed ID: 21347281 CUGBP1 Overexpression in Mouse Skeletal Muscle Reproduces Features of Myotonic Dystrophy Type 1 Human Molecular Genetics. Sep, 2010 | Pubmed ID: 20603324 The Role of MTMR14 in Autophagy and in Muscle Disease Autophagy. Aug, 2010 | Pubmed ID: 20595810 Loss of Myotubularin Function Results in T-tubule Disorganization in Zebrafish and Human Myotubular Myopathy PLoS Genetics. Feb, 2009 | Pubmed ID: 19197364 Kindlin-2 is Required for Myocyte Elongation and is Essential for Myogenesis BMC Cell Biology. 2008 | Pubmed ID: 18611274 Membrane Traffic and Muscle: Lessons from Human Disease Traffic (Copenhagen, Denmark). Jul, 2008 | Pubmed ID: 18266915 Kindlin-2 is an Essential Component of Intercalated Discs and is Required for Vertebrate Cardiac Structure and Function Circulation Research. Feb, 2008 | Pubmed ID: 18174465 Mutation of FIG4 Causes Neurodegeneration in the Pale Tremor Mouse and Patients with CMT4J Nature. Jul, 2007 | Pubmed ID: 17572665 Potent and Orally Bioavailable 8-bicyclo[2.2.2]octylxanthines As Adenosine A1 Receptor Antagonists Journal of Medicinal Chemistry. Nov, 2006 | Pubmed ID: 17125264 Body Segment Parameter Estimation of the Human Lower Leg Using an Elliptical Model with Validation from DEXA Annals of Biomedical Engineering. Sep, 2006 | Pubmed ID: 16847589 The Uncertainty of the Pendulum Method for the Determination of the Moment of Inertia Medical Engineering & Physics. Oct, 2006 | Pubmed ID: 16442329 Predicting in Vivo Soft Tissue Masses of the Lower Extremity Using Segment Anthropometric Measures and DXA Journal of Applied Biomechanics. Nov, 2005 | Pubmed ID: 16498182 Synthesis of [1,2,4]triazolo[1,5-a]pyrazines As Adenosine A2A Receptor Antagonists Bioorganic & Medicinal Chemistry Letters. Nov, 2005 | Pubmed ID: 16153830 Using Mass Distribution Information to Model the Human Thigh for Body Segment Parameter Estimation Journal of Biomechanical Engineering. Jun, 2005 | Pubmed ID: 16060352 Design and Responses of Butterworth and Critically Damped Digital Filters Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. Dec, 2003 | Pubmed ID: 14573371 Analysis of Body Segment Parameter Differences Between Four Human Populations and the Estimation Errors of Four Popular Mathematical Models Journal of Biomechanical Engineering. Aug, 2003 | Pubmed ID: 12968576 Reciprocal Fusion Transcripts of Two Novel Zn-finger Genes in a Female with Absence of the Corpus Callosum, Ocular Colobomas and a Balanced Translocation Between Chromosomes 2p24 and 9q32 European Journal of Human Genetics : EJHG. Jul, 2003 | Pubmed ID: 12825074 The Measurement of Body Segment Inertial Parameters Using Dual Energy X-ray Absorptiometry Journal of Biomechanics. Dec, 2002 | Pubmed ID: 12445610 Explaining Differences in the Metabolic Cost and Efficiency of Treadmill Locomotion in Children Journal of Sports Sciences. Jun, 2002 | Pubmed ID: 12137175 Diabetic Foot Ulcers and Infections: Current Concepts Advances in Skin & Wound Care. Jan-Feb, 2002 | Pubmed ID: 11905449 Clinical and Molecular Basis of Classical Lissencephaly: Mutations in the LIS1 Gene (PAFAH1B1) Human Mutation. Jan, 2002 | Pubmed ID: 11754098 Analys av Zebrafish Larver skelettmuskulatur Integrity med Evans Blue Dye Sarah J. Smith*1,2, Eric J. Horstick*3,4, Ann E. Davidson1,2, James Dowling1,2,4 1Program in Genetics & Genome Biology, The Hospital for Sick Children, 2Department of Molecular Genetics, The University of Toronto, 3Program in Genomics of Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 4Departments of Pediatrics and Neurology, University of Michigan Biologia do Desenvolvimento
Analys av Zebrafish Larver skelettmuskulatur Integrity med Evans Blue Dye Sarah J. Smith*1,2, Eric J. Horstick*3,4, Ann E. Davidson1,2, James Dowling1,2,4 1Program in Genetics & Genome Biology, The Hospital for Sick Children, 2Department of Molecular Genetics, The University of Toronto, 3Program in Genomics of Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 4Departments of Pediatrics and Neurology, University of Michigan Biologia do Desenvolvimento
