Submissions from 2013
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan., Keren J. Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Eric P. Hoffman, and +31 additional authors
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, Nigel F. Clarke, Kimberly Amburgey, James Teener, Sandra Camelo-Piragua, Akanchha Kesari, Jaya Punetha, Leigh B. Waddell, Mark Davis, Nigel G. Laing, Nicole Monnier, Kathryn N. North, Eric P. Hoffman, and James J. Dowling
Daily supplementation of D-ribose shows no therapeutic benefits in the MHC-I transgenic mouse model of inflammatory myositis, William Coley, Sree Rayavarapu, Jack H. Van der Meulen, Ayyappa S. Duba, and Kanneboyina Nagaraju
Identification of novel DNA-methylated genes that correlate with human prostate cancer and high-grade prostatic intraepithelial neoplasia, Joseph M. Devaney, S. Wang, S. Funda, J. Long, D. J. Taghipour, R. Tbaishat, P. Furbert-Harris, M. Ittmann, and B. Kwabi-Addo
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion, Stephanie Duguez, William Duddy, Helen Johnston, Jeanne Laine, Marie Catherine Le Bihan, Kristy J. Brown, Anne Bigot, Yetrib Hathout, Gillian Butler-Browne, and Terence Partridge
A Role for Ly108 in the Induction of Promyelocytic Zinc Finger Transcription Factor in Developing Thymocytes., Mala Dutta, Zachary J. Kraus, Julio Gomez-Rodriguez, Sun-Hee Hwang, Jennifer L. Cannons, Jun Cheng, Sang-Yun Lee, David L. Wiest, Edward K. Wakeland, and Pamela Schwartzberg
Status of LEPR gene in PCB-exposed population: A quick look, Somiranjan Ghosh, Tomas Trnovec, Lubica Palkovicova, Eric P. Hoffman, Kareem Washington, and Sisir K. Dutta
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors, Naoe Harafuji, Peter Schneiderat, Maggie C. Walter, and Yi-Wen Chen
VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects, Christopher R. Heier, Jesse M. Damsker, Qing Yu, Blythe C. Dillingham, Tony Huynh, Heather A. Gordish-Dressman, Jyoti K. Jaiswal, Eric P. Hoffman, Kanneboyina Nagaraju, and +15 additional authors
Orphan drug development in muscular dystrophy: Update on two large clinical trials of dystrophin rescue therapies, Eric P. Hoffman and Edward M. Connor
Alterations in osteopontin modify muscle size in females in both humans and mice., Eric P. Hoffman, Heather A. Gordish-Dressman, Virginia D. McLane, Joseph M. Devaney, Paul D. Thompson, Paul S. Visich, Paul M. Gordon, Linda S. Pescatello, Robert F. Zoeller, Niall M. Moyna, Theodore J. Angelopoulos, Elena Pegoraro, and Gregory A. Cox
Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy., Eric P. Hoffman, Erica K.M. Reeves, Jesse M. Damsker, Kanneboyina Nagaraju, John M. McCall, Edward M. Connor, and Kate Bushby
Pro-asthmatic cytokines regulate unliganded and ligand-dependent glucocorticoid receptor signaling in airway smooth muscle, Aihua Hu, Maureen B. Josephson, Barry L. Diener, Gustavo Nino, Shuyun Xu, Chinmay Paranjape, Jordan S. Orange, and Michael M. Grunstein
Belling the cat - Tagging live cells with quantum dots, Jyoti K. Jaiswal and Sanford M. Simon
Effect of the sort1 low-density lipoprotein cholesterol locus is sex-specific in a fit, Canadian young-adult population, Angela Karlos, Jane Shearer, Elizabeth Gnatiuk, Chiatogu Onyewu, GIna M. Many, Eric P. Hoffman, and Dustin S. Hittel
Pathogenesis of myositis: Lessons learned from animal studies, Travis B. Kinder, Sree Rayavarapu, Kathryn White, and Kanneboyina Nagaraju
Inpatient weight loss as a precursor to bariatric surgery for adolescents with extreme obesity: Optimizing bariatric surgery, Emily Koeck, Katherine P. Davenport, Leah C. Barefoot, Faisal G. Qureshi, Daniel Davidow, and Evan P. Nadler
Apolipoprotein E polymorphisms and severity of cerebral palsy: A cross-sectional study in 255 children in Norway, Espen Lien, Guro L. Andersen, Yongde Bao, Heather A. Gordish-Dressman, Jon S. Skranes, Torstein Vik, and James A. Blackman
Aging influences the expression of early response genes following acute resistance exercise in trained skeletal muscle, Dongmei Liu, Maureen A. Sartor, Emidio E. Pistilli, Gustavo A. Nader, Paul S. Visich, Eric P. Hoffman, and Paul M. Gordon
The cooperative international neuromuscular research group Duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used, Craig M. McDonald, Erik K. Henricson, R. Ted Abresch, Jay J. Han, Diana M. Escolar, Julaine M. Florence, Tina Duong, Adrienne Arrieta, Paula R. Clemens, Eric P. Hoffman, Avital Cnaan, and The CINRG Investigators
Conditional expression of TGF-β1 in skeletal muscles causes endomysial fibrosis and myofibers atrophy, Jigna Narola, Sachchida Nand Pandey, Adam Glick, and Yi-Wen Chen
Sparing of the dystrophin-deficient cranial sartorius muscle is associated with classical and novel hypertrophy pathways in GRMD dogs, Peter P. Nghiem, Eric P. Hoffman, Priya Mittal, Kristy J. Brown, Scott J. Schatzberg, Svetlana Ghimbovschi, Zuyi Wang, and Joe N. Kornegay
Nuclear envelope laminopathies: Evidence for developmentally inappropriate chromatin-nuclear envelope interactions, Jelena Perovanovic, Jyoti K. Jaiswal, Nikola Markovic, and Eric P. Hoffman
Highlights from the functional single nucleotide polymorphisms associated with human muscle size and strength or FAMuSS study, Linda S. Pescatello, Joseph M. Devaney, Monica J. Hubal, Paul D. Thompson, and Eric P. Hoffman
Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar, Jaya Punetha and Eric P. Hoffman
Effects of dantrolene therapy on disease phenotype in dystrophin deficient mdx mice, James L. Quinn, Tony Huynh, Kitipong Uaesoontrachoon, Kathleen Tatem, Aditi Phadke, Jack H. Van der Meulen, Qing Yu, and Kanneboyina Nagaraju
Identification of disease specific pathways using in vivo SILAC proteomics in dystrophin deficient MDX mouse, Sree Rayavarapu, William Coley, Erdinc Cakir, Vanessa Jahnke, Shin'ichi Takeda, Yoshitsugu Aoki, Heather A. Gordish-Dressman, Jyoti K. Jaiswal, Eric P. Hoffman, Kristy J. Brown, Yetrib Hathout, and Kanneboyina Nagaraju
Idiopathic inflammatory myopathies: Pathogenic mechanisms of muscle weakness, Sree Rayavarapu, William Coley, Travis B. Kinder, and Kanneboyina Nagaraju
Activation of the ubiquitin proteasome pathway in a mouse model of inflammatory myopathy: A potential therapeutic target, Sree Rayavarapu, William Coley, Jack H. Van der Meulen, Erdinc Cakir, Kathyayini Tappeta, Travis B. Kinder, Blythe C. Dillingham, Kristy J. Brown, Yetrib Hathout, and Kanneboyina Nagaraju
VBP15: Preclinical characterization of a novel anti-inflammatory delta 9,11 steroid, Erica K.M. Reeves, Eric P. Hoffman, Kanneboyina Nagaraju, Jesse M. Damsker, and John M. McCall
Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA, Anne Rutkowski, Carsten Bonnemann, Susan Brown, Solveig Thorsteinsdottir, Janice Dominov, Markus A. Ruegg, Michelle L. Matter, Denis Guttridge, Rachelle H. Crosbie-Watson, Gabrielle Kardon, Kanneboyina Nagaraju, Mahasweta Girgenrath, and Dean J. Burkin
The proton pump inhibitor lansoprazole improves the skeletal phenotype in dystrophin deficient mdx mice, Arpana Sali, Gina M. Many, Heather Gordish-Dressman, Jack Van der Meulen, Aditi Phadke, Christopher F. Spurney, Avital Cnaan, Eric P. Hoffman, and Kanneboyina Nagaraju
DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells, Vishakha Sharma, Naoe Harafuji, Alexandra Belayew, and Yi-Wen Chen
A de novo mutation in the beta-Tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with adrophy of the basal ganglia and cerebellum, Cas Simons, Nicole I. Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M. Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M. Grimmond, David Miller, Davide Tonduti, Johanna L. Schmidt, Robert S. Chudnow, Rudy van Coster, Lieven Lagae, Jill Kisler, Juergen Sperner, Marjo S. van der Knaap, Raphael Shiffmann, Ryan J. Taft, and Adeline Vanderver
Rationality and emotionality: Serotonin transporter genotype influences reasoning bias, Melanie Stollstorff, Stephanie E. Bean, Lindsay M. Anderson, Joseph M. Devaney, and Chandan J. Vaidya
Individual differences in emotion-cognition interactions: Emotional valence interacts with serotonin transporter genotype to influence brain systems involved in emotional reactivity and cognitive control, Melanie Stollstorff, Yuko Munakata, Arielle P.C. Jensen, Ryan M. Guild, Harry R. Smolker, Joseph M. Devaney, and Marie T. Banich
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome, Asako Takanohashi, Morgan Prust, Jichuan Wang, Miriam Bloom, Gillian I. Rice, Johanna L. Schmidt, Yanick J. Crow, Pierre Lebon, Taco W. Kuijpers, Kanneboyina Nagaraju, and Adeline Vanderver
DUX4 expression in FSHD muscle cells: How could such a rare protein cause a myopathy?, Alexandra Tassin, Dalila Laoudj-Chenivesse, Celine Vanderplanck, Marietta Barro, Sebastien Charron, Eugenie Ansseau, Yi-Wen Chen, Jacques Mercier, Frederique Coppee, and Alexandra Belayew
The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: Role of endogenous TLR ligands, Kitipong Uaesoontrachoon, Hee-Jae Cha, Beryl Ampong, Arpana Sali, Jack H. Vandermeulen, Benjamin Wei, Brittany Creeden, Tony Huynh, James Quinn, Kathleen Tatem, Sree Rayavarapu, Eric P. Hoffman, and Kanneboyina Nagaraju
Simultaneous detection of nonpolar and polar compounds by heat-assisted laser ablation electrospray ionization mass spectrometry, Anu Vaikkinen, Bindesh Shrestha, Javad Nazarian, Risto Kostiainen, Akos Vertes, and Tiina J. Kauppila
Factorial structure of the brief symptom inventory (BSI)-18 among chinese drug users, Jichuan Wang, Brian C. Kelly, Tieqiao Liu, Guanbai Zhang, and Wei Hao
Omigapil treatment decreases fibrosis and improves respiratory rate in dy2J mouse model of congenital muscular dystrophy, Qing Yu, Arpana Sali, Jack Van der Meulen, Brittany K. Creeden, Heather Gordish-Dressman, Anne Rutkowski, Sree Rayavarapu, Kitipong Uaesoontrachoon, Tony Huynh, Kanneboyina Nagaraju, and Christopher F. Spurney
Human cytomegalovirus inhibits apoptosis by proteasome-mediated degradation of bax at endoplasmic reticulum-mitochondrion contacts, Aiping Zhang, Richard L. Hildreth, and Anamaris M. Colberg-Poley
Structure of the complex of Neisseria gonorrhoeae N-acetyl-l-glutamate synthase with a bound bisubstrate analog, Gengxiang Zhao, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi
Structure of N-acetyl-l-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor l-arginine bound., Gengxiang Zhao, Nantaporn Haskins, Zhongmin Jin, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi
Structure and function of Escherichia coli RimK, an ATP-grasp fold, L-glutamyl ligase enzyme, Gengxiang Zhao, Zhongmin Jin, Yanli Wang, Norma M. Allewell, Mendel Tuchman, and Dashuang Shi
Submissions from 2012
Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery., Yoshitsugu Aoki, Toshifumi Yokota, Tetsuya Nagata, Akinori Nakamura, Jun Tanihata, Takashi Saito, Stephanie Duguez, Kanneboyina Nagaraju, Eric P. Hoffman, Terence Partridge, and Shin'ichi Takeda
Δ-9,11 modification of glucocorticoids dissociates nuclear factor-κ B inhibitory efficacy from glucocorticoid response element-associated side effects, Andreas R. Baudy, Erica K.M. Reeves, Jesse M. Dankser, Christopher M. Heier, Lindsay M. Garvin, Blythe C. Dillingham, John McCall, Sree Rayavarapu, Zuyi Wang, Jack H. Vandermeulen, Arpana Sali, Vanessa Jahnke, Stephanie Duguez, Debra DuBois, Mary C. Rose, Kanneboyina Nagaraju, and Eric P. Hoffman
Role of non-immune mechanisms of muscle damage in idiopathic inflammatory myopathies, William Coley, Sree Rayavarapu, and Kanneboyina Nagaraju
Transcriptional regulation of n-acetylglutamate synthase, Sandra Kirsch Heibel, Giselle Yvette Lopez, Maria Panglao, Sonal Sodha, Leonardo Marino-Ramirez, Mendel Tuchman, and Ljubica Caldovic
Mexiletine for treatment of myotonia: A trial triumph for rare disease networks., Eric P. Hoffman and Henry J. Kaminski
A calm before the exome storm Coming together of dSMA and CMT2., Eric P. Hoffman and Kevin Talbot
Microtubules underlie dysfunction in duchenne muscular dystrophy, Ramzi J. Khairallah, Guoli Shi, Francesca Sbrana, Benjamin L. Prosser, Carlos Borroto, Mark J. Mazaitis, Eric P. Hoffman, Anup Mahurkar, Fredrick Sachs, Yezhou Sun, Yi-Wen Chen, Roberto Raiteri, W. Jonathan Lederer, Susan G. Dorsey, and Christopher W. Ward
Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies., Joe N. Kornegay, Janet R. Bogan, Daniel J. Bogan, Martin K. Childers, Peter Nghiem, Juan Li, David A. Detwiler, C. David Larsen, Robert W. Grange, Ratna K. Bhavaraju-Sanka, Sandra Tou, Bruce P. Keene, James F. Howard Jr., JiaHui Wang, Zheng Fan, Scott J. Schatzberg, Martin A. Styner, Kevin M. Flanigan, Xiao Xiao, and Eric P. Hoffman
The Paradox of Muscle Hypertrophy in Muscular Dystrophy., Joe N. Kornegay, Martin K. Childers, Daniel J. Bogan, Janet R. Bogan, Peter Nghiem, JiaHui Wang, Zheng Fan, James F. Howard Jr., Scott J. Schatzberg, Jennifer L. Dow, Robert W. Grange, Martin A. Styner, Eric P. Hoffman, and Kathryn R. Wagner
IL-6 signaling blockade increases inflammation but does not affect muscle function in the mdx mouse, Mathew A. Kostek, Kanneboyina Nagaraju, Emidio E. Pistilli, Arpana Sali, San-Huei Lai, Brad Gordon, and Yi-Wen Chen
Deletion of galectin-3 exacerbates microglial activation and accelerates disease progression and demise in a SOD1 G93A mouse model of amyotrophic lateral sclerosis, Bruce J. Lerman, Eric P. Hoffman, Margaret L. Sutherland, Khaled Bouri, Daniel K. Hsu, Jeffrey D. Rothstein, and Susan M. Knoblach
Sphingosine-1-phosphate enhances satellite cell activation in dystrophic muscles through a S1PR2/STAT3 signaling pathway, Kenneth C. Loh, Weng-In Leong, Morgan E. Carlson, Babak Oskouian, Ashok Kumar, Henrik Fyrst, Meng Zhang, Richard L. Proia, Eric P. Hoffman, and Julie D. Saba
Eps homology domain endosomal transport proteins differentially localize to the neuromuscular junction, Suzanne E. Mate, Jack H. Van der Meulen, Priyanka Arya, Sohinee Bhattacharyya, Hamid Band, and Eric P. Hoffman
Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice, Sachchida Nand Pandey, Jennifer Cabotage, Rongye Shi, Manjusha Dixit, Margaret L. Sutherland, Jian Liu, Stephanie Muger, Scott Q. Harper, Kanneboyina Nagaraju, and Yi-Wen Chen
Glucocorticoid-treated mice are an inappropriate positive control for long-term preclinical studies in the mdx mouse, Arpana Sali, Alfredo D. Guerron, Heather Gordish-Dressman, Christopher F. Spurney, Micaela Iantorno, Eric P. Hoffman, and Kanneboyina Nagaraju
Family history of autoimmune disease in patients with Aicardi-Goutières syndrome, Johanna L. Schmidt, Ivana Olivieri, Jodie M. Vento, Elisa Fazzi, Heather A. Gordish-Dressman, Simona Orcesi, and Adeline Vanderver
Platelets induce apoptosis during sepsis in a contact-dependent manner that is inhibited by GPIIb/IIIa blockade, Matthew Sharron, Claire E. Hoptay, Andrew A. Wiles, Lindsay M. Garvin, Mayya Geha, Angela S. Benton, Kanneboyina Nagaraju, and Robert J. Freishtat
Crystal structure and biochemical properties of putrescine carbamoyltransferase from Enterococcus faecalis: Assembly, active site, and allosteric regulation., Dashuang Shi, Xiaolin Yu, Gengxiang Zhao, Jeremy Ho, Norma M. Allewell, and Mendel Tuchman
Variants of the ankyrin repeat domain 6 gene (ANKRD6) and muscle and physical activity phenotypes among European-derived American adults, Katherine N. Van Deviere, Sarah K. Stanton, Mathew A. Kostek, Theodore J. Angelopoulos, Priscilla M. Clarkson, Niall M. Moyna, Paul Visich, Robert F. Zoeller, Joseph M. Devaney, Heather Gordish-Dressman, Eric P. Hoffman, Carl M. Maresh, and Linda S. Pescatello
Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training, S. Walsh, C. J. Haddad, M. A. Kostek, T. J. Angelopoulos, P. M. Clarkson, Niall M. Moyna, Paul S. Visich, Robert F. Zoeller, R. L. Seip, S. Bilbie, Heather A. Gordish-Dressman, Eric P. Hoffman, Thomas B. Price, and L. S. Pescatello
Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene, Jianhua Wei, Yang Xue, Lian Wu, Jie Ma, Xiuli Yi, Junrui Zhang, Bin Lu, Chunying Li, Dashuang Shi, Songtao Shi, Xinghua Feng, and Tao Cai
Localization of inflammatory mediators in pediatric sinus mucosa., Xiaofang Wu, Remy Mimms, Roberta Lima, Jennifer Peters-Hall, Mary C. Rose, and Maria T. Pena
Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs, Toshifumi Yokota, Akinori Nakamura, Tetsuya Nagata, Takashi Saito, Masanori Kobayashi, Yoshitsugu Aoki, Yusuke Echigoya, Terence A. Partridge, Eric P. Hoffman, and Shinichi Takeda
Submissions from 2011
Evolution and comparative genomics of subcellular specializations: EST sequencing of Torpedo electric organ., Javad Nazarian, Deborah L Berry, Salar Sanjari, Mohammed Razvi, Kristy Brown, Yetrib Hathout, Akos Vertes, Sherry Dadgar, and Eric P. Hoffman