Alan H. Beggs

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School

Affiliated withBoston Children's Hospital, Harvard Medical School

Research Area

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 93	2013
Publication title Cited by 98	2014

Other Publications

Article	Year
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science (New York, N.Y.)\| PubMed ID: 12193783	2002
Telethonin protein expression in neuromuscular disorders. Biochimica et biophysica acta\| PubMed ID: 12379311	2002
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\| PubMed ID: 12415109	2002
Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. Journal of molecular neuroscience : MN\| PubMed ID: 12663933	2003
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\| PubMed ID: 12677001	2003
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics\| PubMed ID: 12698323	2003
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. Journal of child neurology\| PubMed ID: 12731651	2003
Reproducibility of gene expression across generations of Affymetrix microarrays. BMC bioinformatics\| PubMed ID: 12823866	2003
ACTN3 genotype is associated with human elite athletic performance. American journal of human genetics\| PubMed ID: 12879365	2003
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscular disorders : NMD\| PubMed ID: 12921789	2003
Transcriptional profile of postmortem skeletal muscle. Physiological genomics\| PubMed ID: 14625377	2004
Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology\| PubMed ID: 14688207	2004
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiology of disease\| PubMed ID: 15056467	2004
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Annals of neurology\| PubMed ID: 15236405	2004
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscular disorders : NMD\| PubMed ID: 15336686	2004
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. British journal of haematology\| PubMed ID: 15384984	2004
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 15863612	2005
Variations in gene expression among different types of human skeletal muscle. Muscle & nerve\| PubMed ID: 15962335	2005
X-linked myotubular and centronuclear myopathies. Journal of neuropathology and experimental neurology\| PubMed ID: 16042307	2005
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nature genetics\| PubMed ID: 16227997	2005
The influence of muscle type and dystrophin deficiency on murine expression profiles. Mammalian genome : official journal of the International Mammalian Genome Society\| PubMed ID: 16261416	2005
Evidence by molecular profiling for a placental origin of infantile hemangioma. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 16365311	2005
Adult-onset nemaline myopathy and monoclonal gammopathy. Archives of neurology\| PubMed ID: 16401746	2006
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem cells (Dayton, Ohio)\| PubMed ID: 16741228	2006
Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. Journal of cell science\| PubMed ID: 16835268	2006
Skeletal muscle repair in a mouse model of nemaline myopathy. Human molecular genetics\| PubMed ID: 16877500	2006
Selenoproteins and their impact on human health through diverse physiological pathways. Physiology (Bethesda, Md.)\| PubMed ID: 16990451	2006
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA : the journal of the American Medical Association\| PubMed ID: 17077377	2006
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\| PubMed ID: 17160903	2007
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. American journal of human genetics\| PubMed ID: 17186470	2006
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscular disorders : NMD\| PubMed ID: 17537630	2007
Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 17942673	2007
Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis and rheumatism\| PubMed ID: 17968926	2007
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\| PubMed ID: 18180332	2008
Multiplex PCR for identifying DMD gene deletions. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]\| PubMed ID: 18428400	2006
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\| PubMed ID: 18434328	2008
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood\| PubMed ID: 18535205	2008
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. American journal of human genetics\| PubMed ID: 19061985	2008
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscular disorders : NMD\| PubMed ID: 19232495	2009
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle & nerve\| PubMed ID: 19291799	2009
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Human molecular genetics\| PubMed ID: 19346529	2009
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Human mutation\| PubMed ID: 19562689	2009
Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatric research\| PubMed ID: 19707175	2009
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC genetics\| PubMed ID: 19835634	2009
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\| PubMed ID: 19846786	2009
Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry\| PubMed ID: 19943616	2010
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). Journal of structural biology\| PubMed ID: 19944167	2010
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Human mutation\| PubMed ID: 19953533	2010
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 20682747	2010
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Human mutation\| PubMed ID: 20960466	2010
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. The Journal of clinical investigation\| PubMed ID: 21135508	2011
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. The American journal of pathology\| PubMed ID: 21281811	2011
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Human molecular genetics\| PubMed ID: 21296866	2011
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Human molecular genetics\| PubMed ID: 21357678	2011
Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood\| PubMed ID: 21653321	2011
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skeletal muscle\| PubMed ID: 21798101	2011
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\| PubMed ID: 22068590	2012
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\| PubMed ID: 22253474	2012
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\| PubMed ID: 22343409	2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics\| PubMed ID: 22371254	2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human mutation\| PubMed ID: 22396310	2012
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\| PubMed ID: 22431104	2012
Clinical utility gene card for: Centronuclear and myotubular myopathies. European journal of human genetics : EJHG\| PubMed ID: 22617344	2012
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Disease models & mechanisms\| PubMed ID: 22645112	2012
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal of clinical investigation\| PubMed ID: 22706301	2012
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. American journal of human genetics\| PubMed ID: 22818856	2012
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. The American journal of pathology\| PubMed ID: 22841819	2012
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PloS one\| PubMed ID: 22952766	2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American journal of human genetics\| PubMed ID: 22958903	2012
Muscle function in a canine model of X-linked myotubular myopathy. Muscle & nerve\| PubMed ID: 22987702	2012
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Human molecular genetics\| PubMed ID: 23307925	2013
Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB journal : official publication of the Federation of American Societies for Experimental Biology\| PubMed ID: 23325319	2013
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of medical genetics\| PubMed ID: 23572184	2013
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain : a journal of neurology\| PubMed ID: 23715096	2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American journal of human genetics\| PubMed ID: 23746549	2013
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Human genetics\| PubMed ID: 23812780	2013
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS genetics\| PubMed ID: 23818870	2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology\| PubMed ID: 23975875	2013
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\| PubMed ID: 24176758	2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American journal of human genetics\| PubMed ID: 24268659	2013