Alan H. Beggs Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Biography Publications Institution JoVE Articles Alan H. Beggs has not added a biography. If you are Alan H. Beggs and would like to personalize this page please email our Author Liaison for assistance. Publications Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination As an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy American Journal of Human Genetics. Dec, 2013 | Pubmed ID: 24268659 Mutation of KCNJ8 in a Patient with Cantú Syndrome with Unique Vascular Abnormalities - Support for the Role of K(ATP) Channels in This Condition European Journal of Medical Genetics. Dec, 2013 | Pubmed ID: 24176758 Recessive Truncating Titin Gene, TTN, Mutations Presenting As Centronuclear Myopathy Neurology. Oct, 2013 | Pubmed ID: 23975875 Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish PLoS Genetics. Jun, 2013 | Pubmed ID: 23818870 Novel Deletion of RPL15 Identified by Array-comparative Genomic Hybridization in Diamond-Blackfan Anemia Human Genetics. Nov, 2013 | Pubmed ID: 23812780 Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-recessive Nemaline Myopathy American Journal of Human Genetics. Jul, 2013 | Pubmed ID: 23746549 Deleting Exon 55 from the Nebulin Gene Induces Severe Muscle Weakness in a Mouse Model for Nemaline Myopathy Brain : a Journal of Neurology. Jun, 2013 | Pubmed ID: 23715096 Troponin Activator Augments Muscle Force in Nemaline Myopathy Patients with Nebulin Mutations Journal of Medical Genetics. Jun, 2013 | Pubmed ID: 23572184 Selenoprotein N Deficiency in Mice is Associated with Abnormal Lung Development FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Apr, 2013 | Pubmed ID: 23325319 Enzyme Replacement Therapy Rescues Weakness and Improves Muscle Pathology in Mice with X-linked Myotubular Myopathy Human Molecular Genetics. Apr, 2013 | Pubmed ID: 23307925 Muscle Function in a Canine Model of X-linked Myotubular Myopathy Muscle & Nerve. Oct, 2012 | Pubmed ID: 22987702 Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations As a Cause of Walker-Warburg Syndrome American Journal of Human Genetics. Sep, 2012 | Pubmed ID: 22958903 A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish PloS One. 2012 | Pubmed ID: 22952766 Myotubularin-deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment The American Journal of Pathology. Sep, 2012 | Pubmed ID: 22841819 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 Exome Sequencing Identifies GATA1 Mutations Resulting in Diamond-Blackfan Anemia The Journal of Clinical Investigation. Jul, 2012 | Pubmed ID: 22706301 Myotubular Myopathy and the Neuromuscular Junction: a Novel Therapeutic Approach from Mouse Models Disease Models & Mechanisms. Nov, 2012 | Pubmed ID: 22645112 Clinical Utility Gene Card For: Centronuclear and Myotubular Myopathies European Journal of Human Genetics : EJHG. Oct, 2012 | Pubmed ID: 22617344 Frameshift Mutation in P53 Regulator RPL26 is Associated with Multiple Physical Abnormalities and a Specific Pre-ribosomal RNA Processing Defect in Diamond-blackfan Anemia Human Mutation. Jul, 2012 | Pubmed ID: 22431104 Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-phenotype Correlation in Autosomal Dominant Centronuclear Myopathy Human Mutation. Jun, 2012 | Pubmed ID: 22396310 Mutations in the Satellite Cell Gene MEGF10 Cause a Recessive Congenital Myopathy with Minicores Neurogenetics. May, 2012 | Pubmed ID: 22371254 Normal Myofibrillar Development Followed by Progressive Sarcomeric Disruption with Actin Accumulations in a Mouse Cfl2 Knockout Demonstrates Requirement of Cofilin-2 for Muscle Maintenance Human Molecular Genetics. May, 2012 | Pubmed ID: 22343409 α-Actinin-2 Deficiency Results in Sarcomeric Defects in Zebrafish That Cannot Be Rescued by α-actinin-3 Revealing Functional Differences Between Sarcomeric Isoforms FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. May, 2012 | Pubmed ID: 22253474 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 Novel Mutations in NEB Cause Abnormal Nebulin Expression and Markedly Impaired Muscle Force Generation in Severe Nemaline Myopathy Skeletal Muscle. 2011 | Pubmed ID: 21798101 Ddx18 is Essential for Cell-cycle Progression in Zebrafish Hematopoietic Cells and is Mutated in Human AML Blood. Jul, 2011 | Pubmed ID: 21653321 Changes in Cross-bridge Cycling Underlie Muscle Weakness in Patients with Tropomyosin 3-based Myopathy Human Molecular Genetics. May, 2011 | Pubmed ID: 21357678 The Zebrafish Dag1 Mutant: a Novel Genetic Model for Dystroglycanopathies Human Molecular Genetics. May, 2011 | Pubmed ID: 21296866 Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-deficient Mice The American Journal of Pathology. Feb, 2011 | Pubmed ID: 21281811 Myotubularin Controls Desmin Intermediate Filament Architecture and Mitochondrial Dynamics in Human and Mouse Skeletal Muscle The Journal of Clinical Investigation. Jan, 2011 | Pubmed ID: 21135508 The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update Human Mutation. Dec, 2010 | Pubmed ID: 20960466 MTM1 Mutation Associated with X-linked Myotubular Myopathy in Labrador Retrievers Proceedings of the National Academy of Sciences of the United States of America. Aug, 2010 | Pubmed ID: 20682747 Mutations of Tropomyosin 3 (TPM3) Are Common and Associated with Type 1 Myofiber Hypotrophy in Congenital Fiber Type Disproportion Human Mutation. Feb, 2010 | Pubmed ID: 19953533 Altered Myofilament Function Depresses Force Generation in Patients with Nebulin-based Nemaline Myopathy (NEM2) Journal of Structural Biology. May, 2010 | Pubmed ID: 19944167 Cell Membrane Expression of Cardiac Sodium Channel Na(v)1.5 is Modulated by Alpha-actinin-2 Interaction Biochemistry. Jan, 2010 | Pubmed ID: 19943616 T-tubule Disorganization and Defective Excitation-contraction Coupling in Muscle Fibers Lacking Myotubularin Lipid Phosphatase Proceedings of the National Academy of Sciences of the United States of America. Nov, 2009 | Pubmed ID: 19846786 Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes BMC Genetics. 2009 | Pubmed ID: 19835634 Serotonin-related FEV Gene Variant in the Sudden Infant Death Syndrome is a Common Polymorphism in the African-American Population Pediatric Research. Dec, 2009 | Pubmed ID: 19707175 Mutations and Polymorphisms of the Skeletal Muscle Alpha-actin Gene (ACTA1) Human Mutation. Sep, 2009 | Pubmed ID: 19562689 Thin Filament Length Dysregulation Contributes to Muscle Weakness in Nemaline Myopathy Patients with Nebulin Deficiency Human Molecular Genetics. Jul, 2009 | Pubmed ID: 19346529 Fast-twitch Sarcomeric and Glycolytic Enzyme Protein Loss in Inclusion Body Myositis Muscle & Nerve. Jun, 2009 | Pubmed ID: 19291799 The Exon 55 Deletion in the Nebulin Gene--one Single Founder Mutation with World-wide Occurrence Neuromuscular Disorders : NMD. Mar, 2009 | Pubmed ID: 19232495 Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients American Journal of Human Genetics. Dec, 2008 | Pubmed ID: 19061985 Abnormalities of the Large Ribosomal Subunit Protein, Rpl35a, in Diamond-Blackfan Anemia Blood. Sep, 2008 | Pubmed ID: 18535205 AAV-mediated Intramuscular Delivery of Myotubularin Corrects the Myotubular Myopathy Phenotype in Targeted Murine Muscle and Suggests a Function in Plasma Membrane Homeostasis Human Molecular Genetics. Jul, 2008 | Pubmed ID: 18434328 Dynamic Regulation of Endothelial NOS Mediated by Competitive Interaction with Alpha-actinin-4 and Calmodulin FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. May, 2008 | Pubmed ID: 18180332 Type I Interferon-inducible Gene Expression in Blood is Present and Reflects Disease Activity in Dermatomyositis and Polymyositis Arthritis and Rheumatism. Nov, 2007 | Pubmed ID: 17968926 Distinctive Patterns of MicroRNA Expression in Primary Muscular Disorders Proceedings of the National Academy of Sciences of the United States of America. Oct, 2007 | Pubmed ID: 17942673 Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy Neuromuscular Disorders : NMD. Jul, 2007 | Pubmed ID: 17537630 Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-binding Protein, Cofilin-2 American Journal of Human Genetics. Jan, 2007 | Pubmed ID: 17160903 Multiplex PCR for Identifying DMD Gene Deletions Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [et Al.]. May, 2006 | Pubmed ID: 18428400 Ribosomal Protein S24 Gene is Mutated in Diamond-Blackfan Anemia American Journal of Human Genetics. Dec, 2006 | Pubmed ID: 17186470 Multiple Serotonergic Brainstem Abnormalities in Sudden Infant Death Syndrome JAMA : the Journal of the American Medical Association. Nov, 2006 | Pubmed ID: 17077377 Selenoproteins and Their Impact on Human Health Through Diverse Physiological Pathways Physiology (Bethesda, Md.). Oct, 2006 | Pubmed ID: 16990451 Skeletal Muscle Repair in a Mouse Model of Nemaline Myopathy Human Molecular Genetics. Sep, 2006 | Pubmed ID: 16877500 Melanoma Cell Adhesion Molecule is a Novel Marker for Human Fetal Myogenic Cells and Affects Myoblast Fusion Journal of Cell Science. Aug, 2006 | Pubmed ID: 16835268 Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond-Blackfan Anemia Stem Cells (Dayton, Ohio). Sep, 2006 | Pubmed ID: 16741228 Adult-onset Nemaline Myopathy and Monoclonal Gammopathy Archives of Neurology. Jan, 2006 | Pubmed ID: 16401746 Evidence by Molecular Profiling for a Placental Origin of Infantile Hemangioma Proceedings of the National Academy of Sciences of the United States of America. Dec, 2005 | Pubmed ID: 16365311 The Influence of Muscle Type and Dystrophin Deficiency on Murine Expression Profiles Mammalian Genome : Official Journal of the International Mammalian Genome Society. Oct, 2005 | Pubmed ID: 16261416 Mutations in Dynamin 2 Cause Dominant Centronuclear Myopathy Nature Genetics. Nov, 2005 | Pubmed ID: 16227997 X-linked Myotubular and Centronuclear Myopathies Journal of Neuropathology and Experimental Neurology. Jul, 2005 | Pubmed ID: 16042307 Variations in Gene Expression Among Different Types of Human Skeletal Muscle Muscle & Nerve. Oct, 2005 | Pubmed ID: 15962335 Severe Arrhythmia Disorder Caused by Cardiac L-type Calcium Channel Mutations Proceedings of the National Academy of Sciences of the United States of America. Jun, 2005 | Pubmed ID: 15863612 RNA and Protein Evidence for Haplo-insufficiency in Diamond-Blackfan Anaemia Patients with RPS19 Mutations British Journal of Haematology. Oct, 2004 | Pubmed ID: 15384984 Genotype-phenotype Correlations in Nemaline Myopathy Caused by Mutations in the Genes for Nebulin and Skeletal Muscle Alpha-actin Neuromuscular Disorders : NMD. Sep, 2004 | Pubmed ID: 15336686 Heterogeneity of Nemaline Myopathy Cases with Skeletal Muscle Alpha-actin Gene Mutations Annals of Neurology. Jul, 2004 | Pubmed ID: 15236405 Molecular Classification of Nemaline Myopathies: "nontyping" Specimens Exhibit Unique Patterns of Gene Expression Neurobiology of Disease. Apr, 2004 | Pubmed ID: 15056467 Expression Profiling and Identification of Novel Genes Involved in Myogenic Differentiation FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Feb, 2004 | Pubmed ID: 14688207 Transcriptional Profile of Postmortem Skeletal Muscle Physiological Genomics. Jan, 2004 | Pubmed ID: 14625377 Muscle Disease Caused by Mutations in the Skeletal Muscle Alpha-actin Gene (ACTA1) Neuromuscular Disorders : NMD. Sep, 2003 | Pubmed ID: 12921789 ACTN3 Genotype is Associated with Human Elite Athletic Performance American Journal of Human Genetics. Sep, 2003 | Pubmed ID: 12879365 Reproducibility of Gene Expression Across Generations of Affymetrix Microarrays BMC Bioinformatics. Jun, 2003 | Pubmed ID: 12823866 Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy Journal of Child Neurology. Mar, 2003 | Pubmed ID: 12731651 Gene Expression Profiling of Duchenne Muscular Dystrophy Skeletal Muscle Neurogenetics. Aug, 2003 | Pubmed ID: 12698323 Expression Profiling Reveals Altered Satellite Cell Numbers and Glycolytic Enzyme Transcription in Nemaline Myopathy Muscle Proceedings of the National Academy of Sciences of the United States of America. Apr, 2003 | Pubmed ID: 12677001 Deficiency of Muscle Alpha-actinin-3 is Compatible with High Muscle Performance Journal of Molecular Neuroscience : MN. Feb, 2003 | Pubmed ID: 12663933 Gene Expression Comparison of Biopsies from Duchenne Muscular Dystrophy (DMD) and Normal Skeletal Muscle Proceedings of the National Academy of Sciences of the United States of America. Nov, 2002 | Pubmed ID: 12415109 Telethonin Protein Expression in Neuromuscular Disorders Biochimica Et Biophysica Acta. Oct, 2002 | Pubmed ID: 12379311 Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia Science (New York, N.Y.). Aug, 2002 | Pubmed ID: 12193783 Tissue Triage og Frysing av modeller av Skeletal Muscle Disease Hui Meng1, Paul M.L. Janssen2, Robert W. Grange3, Lin Yang4, Alan H. Beggs5, Lindsay C. Swanson5, Stacy A. Cossette1,6, Alison Frase7, Martin K. Childers8, Henk Granzier9, Emanuela Gussoni5, Michael W. Lawlor1 1Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, 2Department of Physiology and Cell Biology, The Ohio State University, 3Department of Human Nutrition, Foods and Exercise, Virginia Tech, 4Division of Biomedical Informatics, Department of Biostatistics, Department of Computer Science, University of Kentucky, 5Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 6Cure Congenital Muscular Dystrophy, 7Joshua Frase Foundation, 8Department of Rehabilitation Medicine, University of Washington, 9Department of Physiology, University of Arizona Biology Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays JoVE 50925 Biology
Tissue Triage og Frysing av modeller av Skeletal Muscle Disease Hui Meng1, Paul M.L. Janssen2, Robert W. Grange3, Lin Yang4, Alan H. Beggs5, Lindsay C. Swanson5, Stacy A. Cossette1,6, Alison Frase7, Martin K. Childers8, Henk Granzier9, Emanuela Gussoni5, Michael W. Lawlor1 1Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, 2Department of Physiology and Cell Biology, The Ohio State University, 3Department of Human Nutrition, Foods and Exercise, Virginia Tech, 4Division of Biomedical Informatics, Department of Biostatistics, Department of Computer Science, University of Kentucky, 5Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 6Cure Congenital Muscular Dystrophy, 7Joshua Frase Foundation, 8Department of Rehabilitation Medicine, University of Washington, 9Department of Physiology, University of Arizona Biology
Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays JoVE 50925 Biology