Research Topics
Species | R D CohnSummaryAffiliation: Johns Hopkins University Country: USA Publications
Research Grants
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Detail Information
Publications
The genetics revolution and primary care pediatricsTina L Cheng
Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland 21287, USA
JAMA 299:451-3. 2008
Role of TGF-β signaling in inherited and acquired myopathiesTyesha N Burks
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Skelet Muscle 1:19. 2011..We also discuss how the inhibition of several members of the TGF-β signaling pathway has been implicated in ameliorating disease phenotypes, opening up novel therapeutic avenues for a large group of neuromuscular disorders...
Myostatin does not regulate cardiac hypertrophy or fibrosisRonald D Cohn
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Neuromuscul Disord 17:290-6. 2007..2% vs. 12%). The physiological role of myostatin in cardiac muscle appears significantly different than that in skeletal muscle as it does not induce cardiac hypertrophy and does not modulate cardiac fibrosis in mdx mice...
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald D Cohn
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children s Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA
Pediatrics 118:e514-21. 2006..Intracranial hemorrhage in a term neonate without a potential precipitating factor represents yet another clinical feature that should raise the suspicion for a congenital disorder of glycosylation...
Dystroglycan: important player in skeletal muscle and beyondRonald D Cohn
Johns Hopkins Hospital, Children s Center, McKusick Nathans Institute of Genetic Medicine, 600 N Wolfe Street, Blalock 1008, Baltimore, MD 21287, USA
Neuromuscul Disord 15:207-17. 2005..The current review summarizes the recent scientific achievements as they relate to the function of dystroglycan under normal and pathophysiological conditions...
Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disordersE L Finanger Hedderick
Department of Neurology, Johns Hopkins University School of Medicine, 733 North Broadway BRB 529, Baltimore, MD 21205, USA
Neurology 76:960-7. 2011..Our objectives were to characterize further the range of patients manifesting aberrant nNOS sarcolemmal immunolocalization and to study nNOS localization in animal models of nondystrophic myopathy...
Regulation of muscle mass by follistatin and activinsSe Jin Lee
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Mol Endocrinol 24:1998-2008. 2010....
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic statesRonald D Cohn
McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
Nat Med 13:204-10. 2007..Moreover, we show TGF-beta-induced failure of muscle regeneration and a similar therapeutic response in a dystrophin-deficient mouse model of Duchenne muscular dystrophy...
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndromeJennifer P Habashi
Howard Hughes Medical Institute and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 312:117-21. 2006....
SP-litting the satellite niche to repopulate muscleStefani Fontana
Department of Pediatrics and Neurology, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, BRB 529 Baltimore, MD 21205, USA
Cell Stem Cell 4:194-5. 2009..2009) advance our understanding of the cells that contribute to muscle regeneration by identifying an ABCG2-expressing population that exhibits excellent engraftment potential, particularly within the satellite cell niche...
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophiesDaniel E Michele
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242 1101, USA
Nature 418:417-22. 2002....
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophySteven A Moore
Department of Pathology, The University of Iowa, Iowa City, Iowa 52242 1101, USA
Nature 418:422-5. 2002..Our data strongly support the hypothesis that defects in dystroglycan are central to the pathogenesis of structural and functional brain abnormalities seen in CMD...
Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regenerationRonald D Cohn
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology, Iowa City, IA 52242, USA
Cell 110:639-48. 2002..Therefore, inadequate repair of skeletal muscle by satellite cells represents an important mechanism affecting the pathogenesis of muscular dystrophy...
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilizationFumiaki Saito
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
Neuron 38:747-58. 2003..Dystroglycan may be required for the normal maintenance of voltage-gated sodium channels at nodes of Ranvier, possibly by mediating trans interactions between Schwann cell microvilli and the nodal axolemma...
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophiesRita Barresi
Howard Hughes Medical Institute, Department of Physiology and Biophysics, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
Nat Med 10:696-703. 2004..Our findings indicate that modulation of LARGE expression or activity is a viable therapeutic strategy for glycosyltransferase-deficient congenital muscular dystrophies...
Research Grants
- Role of TGFB signaling in muscle regeneration and various myopathic statesRONALD COHN; Fiscal Year: 2007..Moreover, improvement of muscle regeneration may have potential benefit for other conditions such as disease, disuse or age related decrease in muscle mass. ..
