Division of Genetics and Genomics,
Manton Center for Orphan Disease Research,
The Manton Center for Orphan Disease Research,
Division of Genetics and Genomics, Manton Center for Orphan Disease Research,
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research
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Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Science (New York, N.Y.) Aug, 2002 | Pubmed ID: 12193783
Telethonin protein expression in neuromuscular disorders.
Biochimica et biophysica acta Oct, 2002 | Pubmed ID: 12379311
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
Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance.
Journal of molecular neuroscience : MN Feb, 2003 | Pubmed ID: 12663933
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
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.
Neurogenetics Aug, 2003 | Pubmed ID: 12698323
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.
Journal of child neurology Mar, 2003 | Pubmed ID: 12731651
Reproducibility of gene expression across generations of Affymetrix microarrays.
BMC bioinformatics Jun, 2003 | Pubmed ID: 12823866
ACTN3 genotype is associated with human elite athletic performance.
American journal of human genetics Sep, 2003 | Pubmed ID: 12879365
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Neuromuscular disorders : NMD Sep, 2003 | Pubmed ID: 12921789
Transcriptional profile of postmortem skeletal muscle.
Physiological genomics Jan, 2004 | Pubmed ID: 14625377
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
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.
Neurobiology of disease Apr, 2004 | Pubmed ID: 15056467
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Annals of neurology Jul, 2004 | Pubmed ID: 15236405
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
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
British journal of haematology Oct, 2004 | Pubmed ID: 15384984
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
Variations in gene expression among different types of human skeletal muscle.
Muscle & nerve Oct, 2005 | Pubmed ID: 15962335
X-linked myotubular and centronuclear myopathies.
Journal of neuropathology and experimental neurology Jul, 2005 | Pubmed ID: 16042307
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nature genetics Nov, 2005 | Pubmed ID: 16227997
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
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
Adult-onset nemaline myopathy and monoclonal gammopathy.
Archives of neurology Jan, 2006 | Pubmed ID: 16401746
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
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
Skeletal muscle repair in a mouse model of nemaline myopathy.
Human molecular genetics Sep, 2006 | Pubmed ID: 16877500
Selenoproteins and their impact on human health through diverse physiological pathways.
Physiology (Bethesda, Md.) Oct, 2006 | Pubmed ID: 16990451
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.
JAMA : the journal of the American Medical Association Nov, 2006 | Pubmed ID: 17077377
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
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
American journal of human genetics Dec, 2006 | Pubmed ID: 17186470
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Neuromuscular disorders : NMD Jul, 2007 | Pubmed ID: 17537630
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
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
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
Multiplex PCR for identifying DMD gene deletions.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] May, 2006 | Pubmed ID: 18428400
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
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Blood Sep, 2008 | Pubmed ID: 18535205
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
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
Neuromuscular disorders : NMD Mar, 2009 | Pubmed ID: 19232495
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.
Muscle & nerve Jun, 2009 | Pubmed ID: 19291799
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.
Human molecular genetics Jul, 2009 | Pubmed ID: 19346529
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Human mutation Sep, 2009 | Pubmed ID: 19562689
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
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
BMC genetics , 2009 | Pubmed ID: 19835634
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
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.
Biochemistry Jan, 2010 | Pubmed ID: 19943616
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).
Journal of structural biology May, 2010 | Pubmed ID: 19944167
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
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
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Human mutation Dec, 2010 | Pubmed ID: 20960466
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
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
The American journal of pathology Feb, 2011 | Pubmed ID: 21281811
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
Human molecular genetics May, 2011 | Pubmed ID: 21296866
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
Human molecular genetics May, 2011 | Pubmed ID: 21357678
Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.
Blood Jul, 2011 | Pubmed ID: 21653321
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
Skeletal muscle , 2011 | Pubmed ID: 21798101
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
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
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
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics May, 2012 | Pubmed ID: 22371254
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Human mutation Jun, 2012 | Pubmed ID: 22396310
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
Clinical utility gene card for: Centronuclear and myotubular myopathies.
European journal of human genetics : EJHG Oct, 2012 | Pubmed ID: 22617344
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Disease models & mechanisms Nov, 2012 | Pubmed ID: 22645112
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
The Journal of clinical investigation Jul, 2012 | Pubmed ID: 22706301
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
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
The American journal of pathology Sep, 2012 | Pubmed ID: 22841819
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
PloS one , 2012 | Pubmed ID: 22952766
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
Muscle function in a canine model of X-linked myotubular myopathy.
Muscle & nerve Oct, 2012 | Pubmed ID: 22987702
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Human molecular genetics Apr, 2013 | Pubmed ID: 23307925
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
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
Journal of medical genetics Jun, 2013 | Pubmed ID: 23572184
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
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
American journal of human genetics Jul, 2013 | Pubmed ID: 23746549
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Human genetics Nov, 2013 | Pubmed ID: 23812780
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
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Neurology Oct, 2013 | Pubmed ID: 23975875
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
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
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,
6, Cure Congenital Muscular Dystrophy,
7, Joshua Frase Foundation,
8Department of Rehabilitation Medicine, University of Washington,
9Department of Physiology, University of Arizona
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