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 Grave Miopatia Congenita Associata a RYR1: L'espansione Clinicopathologic E Genetico Dello Spettro Neurology. Apr, 2013 | Pubmed ID: 23553484 Una Romanzo Mutazione Amplia Lo Spettro Clinico E Genetico Delle Miopatie MYH7-correlati Neuromuscular Disorders : NMD. May, 2013 | Pubmed ID: 23478172 Due Dynamin-2 Geni Sono Necessari Per Lo Sviluppo Normale Di Zebrafish PloS One. 2013 | Pubmed ID: 23418470 Romanzo Cancellazione Di Lisina 7 Amplia Lo Spettro Clinico, Istopatologico E Genetico Di Miopatie TPM2-correlati Brain : a Journal of Neurology. Feb, 2013 | Pubmed ID: 23413262 Anomalie Della Giunzione Neuromuscolare in Miopatia Centronucleare DNM2-correlati 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 Linee Guida Per L'uso E L'interpretazione Delle Analisi Per Il Monitoraggio Autophagy Autophagy. Apr, 2012 | Pubmed ID: 22966490 Effetti Neuromuscolari Dell'espressione G93A-SOD1 Nello Zebrafish Molecular Neurodegeneration. 2012 | Pubmed ID: 22938571 External and Internal Influences on Muscle Pathology Archives of Pathology & Laboratory Medicine. Aug, 2012 | Pubmed ID: 22849742 Mutazione Dominante Di CCDC78 in Un'unica Miopatia Congenita Con Nuclei Prominenti Interni E Nuclei Atipici 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 Miopatia E La Giunzione Neuromuscolare: Un Nuovo Approccio Terapeutico Da Modelli Murini Disease Models & Mechanisms. Nov, 2012 | Pubmed ID: 22645112 Dichiarazione Di Consenso Su Standard Di Cura Per Le Miopatie Congenite Journal of Child Neurology. Mar, 2012 | Pubmed ID: 22431881 Lo Stress Ossidativo E Trattamento Antiossidante Successo Nei Modelli Di Miopatia Correlati a RYR1 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 Le Miopatie Congenite: Un Aggiornamento Current Neurology and Neuroscience Reports. Apr, 2012 | Pubmed ID: 22392505 Qualità Della Vita E Autonomia Negli Adulti Emergenti Con Malattie Neuromuscolari Ad Esordio Precoce Journal of Genetic Counseling. Oct, 2012 | Pubmed ID: 22367485 Un Nuovo Approccio Allo Studio Motoneuroni Da Zebrafish Embrioni E Larve in Cultura Journal of Neuroscience Methods. Jan, 2012 | Pubmed ID: 22285259 182 ENMC International Workshop: Correlati a RYR1 Miopatie, 15-17 Aprile 2011, Naarden, Paesi Bassi Neuromuscular Disorders : NMD. May, 2012 | Pubmed ID: 22226685 Neb: Zebrafish Modello Di Miopatia Nemalinica Dovuta a Mutazioni Nebulina Disease Models & Mechanisms. May, 2012 | Pubmed ID: 22159874 Modellazione Umana MTM1 P.R69C Mutazione in Murino Mtm1 Risultati Nell'esone 4 Saltando E Un Fenotipo Meno Grave Di Myopathy Myotubular Human Molecular Genetics. Feb, 2012 | Pubmed ID: 22068590 Prevalenza Di Miopatie Congenite Nella Popolazione Pediatrica Rappresentante Degli Stati Uniti Annals of Neurology. Oct, 2011 | Pubmed ID: 22028225 Meccanismo Patogeno Della Mutazione Responsabile Della Malattia Di Charcot-Marie-Tooth CMT4J FIG4 PLoS Genetics. Jun, 2011 | Pubmed ID: 21655088 Sindrome Di King-Denborough Con E Senza Mutazioni Nel Gene (RYR1) Recettore Rianodinico Muscolo Scheletrico Neuromuscular Disorders : NMD. Jun, 2011 | Pubmed ID: 21514828 Trasmissione Neuromuscolare Alterata E Risposta Agli Inibitori Dell'acetilcolinesterasi in Centronucleare Miopatie Neuromuscular Disorders : NMD. Jun, 2011 | Pubmed ID: 21440438 L'integrina Coactivator Kindlin-2 Svolge Un Ruolo Critico Nella Angiogenesi Nei Topi E Zebrafish Blood. May, 2011 | Pubmed ID: 21378273 Regolamento Di Phosphoinositide Di Integrina Traffico Necessari Per La Manutenzione E L'attacco Del Muscolo PLoS Genetics. 2011 | Pubmed ID: 21347281 CUGBP1 Sovraespressione in Muscolo Scheletrico Del Mouse Riproduce Caratteristiche Della Distrofia Miotonica Di Tipo 1 Human Molecular Genetics. Sep, 2010 | Pubmed ID: 20603324 Il Ruolo Di MTMR14 in Autophagy E Nella Malattia Del Muscolo Autophagy. Aug, 2010 | Pubmed ID: 20595810 Perdita Della Funzione Miotubularina Risultati in Disorganizzazione T-tubulo in Zebrafish E Myopathy Myotubular Umana PLoS Genetics. Feb, 2009 | Pubmed ID: 19197364 Kindlin-2 è Necessario Per L'allungamento Del Miocita Ed è Essenziale Per Myogenesis BMC Cell Biology. 2008 | Pubmed ID: 18611274 Traffico Di Membrana E Muscolo: Lezioni Dalla Malattia Umana Traffic (Copenhagen, Denmark). Jul, 2008 | Pubmed ID: 18266915 Kindlin-2 è Un Componente Essenziale Dei Dischi Intercalati Ed è Necessario Per La Funzione E La Struttura Cardiaca Vertebrato Circulation Research. Feb, 2008 | Pubmed ID: 18174465 Mutazione Di FIG4 Provoca Neurodegenerazione Del Mouse Pallido Tremore E Pazienti Con 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 Corpo Segmento Parametro Stima Della Gamba Umana Utilizzando Un Modello Di Ellittico Con Convalida Da DEXA Annals of Biomedical Engineering. Sep, 2006 | Pubmed ID: 16847589 L'incertezza Del Metodo Pendolo Per La Determinazione Del Momento Di Inerzia Medical Engineering & Physics. Oct, 2006 | Pubmed ID: 16442329 Previsione Di Masse in Vivo Dei Tessuti Molli Dell'arto Inferiore Mediante Misure Antropometriche Di Segmento E 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 Utilizzando Le Informazioni Di Distribuzione Di Massa Per Modellare La Coscia Umana Per Stima Del Parametro Segmento Corpo Journal of Biomechanical Engineering. Jun, 2005 | Pubmed ID: 16060352 Progettazione E Le Risposte Di Butterworth E Criticamente Smorzati Filtri Digitali Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. Dec, 2003 | Pubmed ID: 14573371 Analisi Del Corpo Segmento Parametro Differenze Tra Quattro Popolazioni Umane E Gli Errori Di Stima Di Quattro Popolari Modelli Matematici Journal of Biomechanical Engineering. Aug, 2003 | Pubmed ID: 12968576 Trascrizioni Di Fusione Reciproco Di Due Nuovi Geni Zn-finger in Una Femmina Con Agenesia Del Corpo Calloso, Coloboma Oculare E Traslocazione Bilanciata Tra Cromosomi 2 P 24 E 9q32 European Journal of Human Genetics : EJHG. Jul, 2003 | Pubmed ID: 12825074 La Misurazione Del Corpo Segmento Inerziali Parametri Utilizzando 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 Base Clinica E Molecolare Di Lissencefalia Classica: Le Mutazioni Del Gene LIS1 (PAFAH1B1) Human Mutation. Jan, 2002 | Pubmed ID: 11754098 Analisi delle larve Zebrafish muscolo scheletrico Integrità con Blu di Evans 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 Developmental Biology
Analisi delle larve Zebrafish muscolo scheletrico Integrità con Blu di Evans 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 Developmental Biology
