Now showing items 1-20 of 22

    • AAV-Mediated Intramuscular Delivery of Myotubularin Corrects the Myotubular Myopathy Phenotype in Targeted Murine Muscle and Suggests a Function in Plasma Membrane Homeostasis 

      Buj-Bello, Anna; Fougerousse, Françoise; Schwab, Yannick; Messaddeq, Nadia; Spehner, Danièle; Pierson, Christopher R.; Durand, Muriel; Kretz, Christine; Danos, Olivier; Douar, Anne-Marie; Schultz, Patrick; Montus, Marie; Denèfle, Patrice; Mandel, Jean-Louis; Beggs, Alan Hendrie (Oxford University Press, 2008)
      Myotubular myopathy (XLMTM, OMIM 310400) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the presence of small myofibers with frequent occurrence of central ...
    • Altered translation of GATA1 in Diamond-Blackfan anemia 

      Ludwig, Leif S.; Gazda, Hanna T.; Eng, Jennifer C.; Eichhorn, Stephen W.; Thiru, Prathapan; Ghazvinian, Roxanne; George, Tracy I.; Gotlib, Jason R.; Beggs, Alan H.; Sieff, Colin A.; Lodish, Harvey F.; Lander, Eric S.; Sankaran, Vijay G. (2014)
      Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA),1,2 congenital asplenia,3 and T-cell leukemia.4 Yet how mutations in such ubiquitously expressed proteins result ...
    • Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes 

      Bennett, Richard R; Schneider, Hal E; Estrella, Elicia; Burgess, Stephanie; Cheng, Andrew S; Barrett, Caitlin; Lip, Va; Lai, Poh San; Shen, Yiping; Wu, Bai-Lin; Darras, Basil T.; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2009)
      Background: One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on individual ...
    • Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice 

      Kazerounian, Shideh; Ciarlini, Pedro D.S.C.; Yuan, Daniel; Ghazvinian, Roxanne; Alberich-Jorda, Meritxell; Joshi, Mugdha; Zhang, Hong; Beggs, Alan H.; Gazda, Hanna T. (Ivyspring International Publisher, 2016)
      Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA ...
    • Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene 

      de Winter, Josine M; Joureau, Barbara; Sequeira, Vasco; Clarke, Nigel F; van der Velden, Jolanda; Stienen, Ger JM; Granzier, Henk; Beggs, Alan H; Ottenheijm, Coen AC (BioMed Central, 2015)
      Background: Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is characterized by generalized skeletal muscle weakness, often from birth. To date, no therapy exists that enhances the contractile ...
    • Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study 

      Cacioppo, Cara N.; Chandler, Ariel E.; Towne, Meghan C.; Beggs, Alan H.; Holm, Ingrid A. (Public Library of Science, 2016)
      Purpose Much information on parental perspectives on the return of individual research results (IRR) in pediatric genomic research is based on hypothetical rather than actual IRR. Our aim was to understand how the expected ...
    • Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin, a Novel Intermediate Filament Protein on Chromosome 15q26.3 

      Mizuno, Yuji; Puca, Annibale A; O'Brien, Kristine F; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...
    • Improving Stem Cell-Based Therapy and Developing a Novel Gene Therapy Approach for Treating Duchenne Muscular Dystrophy (DMD) 

      Tabebordbar, Mohammadsharif (2016-01-26)
      Genetic mutations in muscle structural genes can compromise myofiber integrity, causing repeated muscle damage that ultimately exhausts muscle regenerative capacity and results in devastating degenerative conditions such ...
    • In vitro Studies of Myofibers and Their Use in Analyzing the Differential Dynamics and Properties of α-Actinin Isoforms 

      Hsu, Cynthia Pu-Chun (2014-06-06)
      Skeletal muscle is a highly organized tissue that requires cooperation of many different structures and components for proper function. We explored the use of a flexor digitorum brevis (FDB) myofiber culture system to ...
    • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge 

      Brownstein, Catherine A; Beggs, Alan H; Homer, Nils; Merriman, Barry; Yu, Timothy W; Flannery, Katherine C; DeChene, Elizabeth T; Towne, Meghan C; Savage, Sarah K; Price, Emily N; Holm, Ingrid A; Luquette, Lovelace J; Lyon, Elaine; Majzoub, Joseph; Neupert, Peter; McCallie Jr, David; Szolovits, Peter; Willard, Huntington F; Mendelsohn, Nancy J; Temme, Renee; Finkel, Richard S; Yum, Sabrina W; Medne, Livija; Sunyaev, Shamil R; Adzhubey, Ivan; Cassa, Christopher A; de Bakker, Paul IW; Duzkale, Hatice; Dworzyński, Piotr; Fairbrother, William; Francioli, Laurent; Funke, Birgit H; Giovanni, Monica A; Handsaker, Robert E; Lage, Kasper; Lebo, Matthew S; Lek, Monkol; Leshchiner, Ignaty; MacArthur, Daniel G; McLaughlin, Heather M; Murray, Michael F; Pers, Tune H; Polak, Paz P; Raychaudhuri, Soumya; Rehm, Heidi L; Soemedi, Rachel; Stitziel, Nathan O; Vestecka, Sara; Supper, Jochen; Gugenmus, Claudia; Klocke, Bernward; Hahn, Alexander; Schubach, Max; Menzel, Mortiz; Biskup, Saskia; Freisinger, Peter; Deng, Mario; Braun, Martin; Perner, Sven; Smith, Richard JH; Andorf, Janeen L; Huang, Jian; Ryckman, Kelli; Sheffield, Val C; Stone, Edwin M; Bair, Thomas; Black-Ziegelbein, E Ann; Braun, Terry A; Darbro, Benjamin; DeLuca, Adam P; Kolbe, Diana L; Scheetz, Todd E; Shearer, Aiden E; Sompallae, Rama; Wang, Kai; Bassuk, Alexander G; Edens, Erik; Mathews, Katherine; Moore, Steven A; Shchelochkov, Oleg A; Trapane, Pamela; Bossler, Aaron; Campbell, Colleen A; Heusel, Jonathan W; Kwitek, Anne; Maga, Tara; Panzer, Karin; Wassink, Thomas; Van Daele, Douglas; Azaiez, Hela; Booth, Kevin; Meyer, Nic; Segal, Michael M; Williams, Marc S; Tromp, Gerard; White, Peter; Corsmeier, Donald; Fitzgerald-Butt, Sara; Herman, Gail; Lamb-Thrush, Devon; McBride, Kim L; Newsom, David; Pierson, Christopher R; Rakowsky, Alexander T; Maver, Aleš; Lovrečić, Luca; Palandačić, Anja; Peterlin, Borut; Torkamani, Ali; Wedell, Anna; Huss, Mikael; Alexeyenko, Andrey; Lindvall, Jessica M; Magnusson, Måns; Nilsson, Daniel; Stranneheim, Henrik; Taylan, Fulya; Gilissen, Christian; Hoischen, Alexander; van Bon, Bregje; Yntema, Helger; Nelen, Marcel; Zhang, Weidong; Sager, Jason; Zhang, Lu; Blair, Kathryn; Kural, Deniz; Cariaso, Michael; Lennon, Greg G; Javed, Asif; Agrawal, Saloni; Ng, Pauline C; Sandhu, Komal S; Krishna, Shuba; Veeramachaneni, Vamsi; Isakov, Ofer; Halperin, Eran; Friedman, Eitan; Shomron, Noam; Glusman, Gustavo; Roach, Jared C; Caballero, Juan; Cox, Hannah C; Mauldin, Denise; Ament, Seth A; Rowen, Lee; Richards, Daniel R; Lucas, F Anthony San; Gonzalez-Garay, Manuel L; Caskey, C Thomas; Bai, Yu; Huang, Ying; Fang, Fang; Zhang, Yan; Wang, Zhengyuan; Barrera, Jorge; Garcia-Lobo, Juan M; González-Lamuño, Domingo; Llorca, Javier; Rodriguez, Maria C; Varela, Ignacio; Reese, Martin G; De La Vega, Francisco M; Kiruluta, Edward; Cargill, Michele; Hart, Reece K; Sorenson, Jon M; Lyon, Gholson J; Stevenson, David A; Bray, Bruce E; Moore, Barry M; Eilbeck, Karen; Yandell, Mark; Zhao, Hongyu; Hou, Lin; Chen, Xiaowei; Yan, Xiting; Chen, Mengjie; Li, Cong; Yang, Can; Gunel, Murat; Li, Peining; Kong, Yong; Alexander, Austin C; Albertyn, Zayed I; Boycott, Kym M; Bulman, Dennis E; Gordon, Paul MK; Innes, A Micheil; Knoppers, Bartha M; Majewski, Jacek; Marshall, Christian R; Parboosingh, Jillian S; Sawyer, Sarah L; Samuels, Mark E; Schwartzentruber, Jeremy; Kohane, Isaac S; Margulies, David M (BioMed Central, 2014)
      Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices ...
    • Kelch proteins: emerging roles in skeletal muscle development and diseases 

      Gupta, Vandana A; Beggs, Alan H (BioMed Central, 2014)
      Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic ...
    • Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish 

      Gupta, Vandana A.; Hnia, Karim; Smith, Laura L.; Gundry, Stacey R.; McIntire, Jessica E.; Shimazu, Junko; Bass, Jessica R.; Talbot, Ethan A.; Amoasii, Leonela; Goldman, Nathaniel E.; Laporte, Jocelyn; Beggs, Alan H. (Public Library of Science, 2013)
      X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active ...
    • Mutations in the Satellite Cell Gene MEGF10 Cause a Recessive Congenital Myopathy with Minicores 

      Mahoney, Lane J.; Myers, Jennifer A.; Estrella, Elicia A.; Duncan, Anna R.; Dey, Friederike; DeChene, Elizabeth T.; Blasko-Goehringer, Jessica M.; Bönnemann, Carsten G.; Mendell, Jerry R.; Nishino, Ichizo; Boyden, Steven Edward; Kawahara, Genri; Mitsuhashi, Satomi; Darras, Basil T.; Lidov, Hart G.W.; Beggs, Alan Hendrie; Kunkel, Louis Martens; Kang, Peter Byung-Hoon (Springer-Verlag, 2012)
      We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and ...
    • A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia 

      Smedemark-Margulies, Niklas; Brownstein, Catherine A.; Vargas, Sigella; Tembulkar, Sahil K.; Towne, Meghan C.; Shi, Jiahai; Gonzalez-Cuevas, Elisa; Liu, Kevin X.; Bilguvar, Kaya; Kleiman, Robin J.; Han, Min-Joon; Torres, Alcy; Berry, Gerard T.; Yu, Timothy W.; Beggs, Alan H.; Agrawal, Pankaj B.; Gonzalez-Heydrich, Joseph (Cold Spring Harbor Laboratory Press, 2016)
      We describe a child with onset of command auditory hallucinations and behavioral regression at 6 yr of age in the context of longer standing selective mutism, aggression, and mild motor delays. His genetic evaluation ...
    • Reproducibility of Gene Expression Across Generations of Affymetrix Microarrays 

      Nimgaonkar, Ashish; Sanoudou, Despina; Butte, Atul J; Haslett, Judith N; Kunkel, Louis Martens; Beggs, Alan Hendrie; Kohane, Isaac Samuel (BioMed Central, 2003)
      Background: The development of large-scale gene expression profiling technologies is rapidly changing the norms of biological investigation. But the rapid pace of change itself presents challenges. Commercial microarrays ...
    • Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration 

      Morton, Sarah U.; Joshi, Mugdha; Savic, Talia; Beggs, Alan H.; Agrawal, Pankaj B. (Public Library of Science, 2015)
      Congenital myopathies are rare skeletal muscle diseases presenting in early age with hypotonia and weakness often linked to a genetic defect. Mutations in the gene for cofilin-2 (CFL2) have been identified in several ...
    • Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons 

      Lawlor, Michael W.; Beggs, Alan H.; Buj-Bello, Ana; Childers, Martin K.; Dowling, James J.; James, Emma S.; Meng, Hui; Moore, Steven A.; Prasad, Suyash; Schoser, Benedikt; Sewry, Caroline A. (Oxford University Press, 2016)
      X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin. This leads to severe perinatal weakness ...
    • A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish 

      Gupta, Vandana; Kawahara, Genri; Myers, Jennifer A.; Chen, Aye T.; Hall, Thomas E.; Manzini, Maria Chiara; Currie, Peter D.; Zhou, Yi; Zon, Leonard Ira; Kunkel, Louis Martens; Beggs, Alan Hendrie (Public Library of Science, 2012)
      Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. ...
    • Tissue Triage and Freezing for Models of Skeletal Muscle Disease 

      Meng, Hui; Janssen, Paul M.L.; Grange, Robert W.; Yang, Lin; Beggs, Alan H.; Swanson, Lindsay C.; Cossette, Stacy A.; Frase, Alison; Childers, Martin K.; Granzier, Henk; Gussoni, Emanuela; Lawlor, Michael W. (MyJove Corporation, 2014)
      Skeletal muscle is a unique tissue because of its structure and function, which requires specific protocols for tissue collection to obtain optimal results from functional, cellular, molecular, and pathological evaluations. ...
    • Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement 

      Ceyhan-Birsoy, Ozge; Talim, Beril; Swanson, Lindsay C.; Karakaya, Mert; Graff, Michelle A.; Beggs, Alan H.; Topaloglu, Haluk (2015)
      Background: Congenital muscular dystrophies (CMDs) are a genetically and clinically heterogeneous group of neuromuscular disorders. Several genes encoding extracellular matrix, nuclear envelope, sarcolemmal proteins and ...