Genomes and Genes
Kathryn R Wagner
Affiliation: Johns Hopkins University
- Loss of myostatin attenuates severity of muscular dystrophy in mdx miceKathryn R Wagner
Department of Neurology, The Johns Hopkins University, 725 N Wolfe Street, Baltimore, MD 21205, USA
Ann Neurol 52:832-6. 2002..Mdx mice lacking myostatin were stronger and more muscular than their mdx counterparts. Diaphragm muscle showed less fibrosis and fatty remodeling, suggesting improved muscle regeneration...
- Genetic diseases of muscleKathryn R Wagner
Department of Neurology, Johns Hopkins Hospital, Meyer 5 119, 600 N Wolfe St, Baltimore, MD 21287, USA
Neurol Clin 20:645-78. 2002....
- Approaching a new age in Duchenne muscular dystrophy treatmentKathryn R Wagner
Department of Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland 21287, USA
Neurotherapeutics 5:583-91. 2008..However, these challenges are not insurmountable and the next decade will likely see meaningful, new treatment options introduced into the clinical care of patients with Duchenne muscular dystrophy...
- Muscle regeneration in the prolonged absence of myostatinKathryn R Wagner
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 102:2519-24. 2005..Early markers of regeneration are enhanced in the absence of myostatin, suggesting a mechanism for the attenuation of dystrophic features found in mdx mice lacking myostatin...
- A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophyKathryn R Wagner
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7519, USA
Ann Neurol 63:561-71. 2008..We conducted a safety trial of a neutralizing antibody to myostatin, MYO-029, in adult muscular dystrophies (Becker muscular dystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy)...
- Muscle regeneration through myostatin inhibitionKathryn R Wagner
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland 21287, USA
Curr Opin Rheumatol 17:720-4. 2005..An understanding of this potential is relevant because inhibitors of myostatin have recently entered clinical trials...
- Current treatment of adult Duchenne muscular dystrophyKathryn R Wagner
Department of Neurology, The Johns Hopkins School of Medicine, Meyer 5 119, 600 N Wolfe St, Baltimore, MD 21287, USA
Biochim Biophys Acta 1772:229-37. 2007..Current and future therapies directed at prolonging the lifespan of those with DMD will result in further increases in this adult population with special needs and concerns. These needs are best addressed in a multidisciplinary clinic...
- Myostatin directly regulates skeletal muscle fibrosisZhao Bo Li
Department of Neurology and Neuroscience, The Johns Hopkins University, School of Medicine, Baltimore, Maryland 21287, USA
J Biol Chem 283:19371-8. 2008..These results expand our understanding of the function of myostatin in muscle tissue and provide a potential target for anti-fibrotic therapies...
- Inhibition of myostatin reverses muscle fibrosis through apoptosisZhao Bo Li
Center for Genetic Muscle Disorders, Hugo W Moser Research Institute at Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
J Cell Sci 125:3957-65. 2012..These results demonstrate that skeletal muscle fibrosis can be pharmacologically reversed through induction of fibroblast apoptosis...
- Clinical predictors of conduction disease progression in type I myotonic muscular dystrophySaman Nazarian
Department of Medicine, Johns Hopkins University School of Medicine and the Kennedy Krieger Institute, Baltimore, Maryland 21287, USA
Pacing Clin Electrophysiol 34:171-6. 2011..We sought to characterize the trends and predictors of time-dependent electrocardiographic (ECG) variations in patients with DM1...
- 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...
- Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy miceCharlotte J Sumner
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA
Hum Mol Genet 18:3145-52. 2009..Together these results suggest that inhibition of myostatin may not be a promising therapeutic strategy in severe forms of SMA...
- A soluble activin type IIB receptor improves function in a mouse model of amyotrophic lateral sclerosisBrett M Morrison
Department of Neurology, The Johns Hopkins School of Medicine, Baltimore, MD, USA
Exp Neurol 217:258-68. 2009..The improved function of SOD1(G93A) transgenic mice following treatment with ActRIIB.mFc is encouraging for the development of TGF-beta pathway inhibitors to increase muscle strength in patients with ALS...
- Fast skeletal muscle troponin activator in the dy2J muscular dystrophy modelJessica J Miciak
Center for Genetic Muscle Disorders, The Kennedy Krieger Institute, 707 North Broadway, Baltimore, Maryland 21205, USA
Muscle Nerve 48:279-85. 2013..Tirasemtiv is a novel small molecule activator of the fast skeletal muscle troponin complex that produces sensitization of the sarcomere to calcium. Tirasemtiv is currently in Phase II clinical trials for neuromuscular disease...
- Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophyDoris G Leung
Center for Genetic Muscle Disorders, The Hugo W Moser Research Institute, Kennedy Krieger Institute, 707 North Broadway, 400a, Baltimore, Maryland, 21205, USA
Muscle Nerve 52:512-20. 2015..Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity...
- Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophyDoris G Leung
Hugo W Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD Departments of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD
Ann Neurol 76:541-9. 2014..To determine whether the PDE5-inhibitor sildenafil benefits human dystrophinopathy, we conducted a randomized, double-blind, placebo-controlled trial (ClinicalTrials.gov, number NCT01168908)...
- Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophyJeffrey M Statland
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
Neuromuscul Disord 23:306-12. 2013....
- Pathophysiology and therapy of cardiac dysfunction in Duchenne muscular dystrophyDaniel P Judge
Division of Cardiology Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Am J Cardiovasc Drugs 11:287-94. 2011..This article focuses on mechanisms of cardiac dysfunction, as well as potential targets for pharmacologic manipulation to prevent or improve cardiomyopathy in DMD...
- Regeneration versus fibrosis in skeletal muscleAdam L Moyer
Center for Genetic Muscle Disorders, The Kennedy Krieger Institute, The Johns Hopkins School of Medicine, Baltimore, Maryland, USA
Curr Opin Rheumatol 23:568-73. 2011..This review evaluates recently published literature examining various muscle tissue cells and their modulators that determine whether injured skeletal muscle will fully regenerate or become fibrotic...
- Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolismAdam L Moyer
The Hugo W Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205 Graduate Program in Cellular and Molecular Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21287
J Neuromuscul Dis 2:371-385. 2015..The function of mammalian Mss51 is unknown although a putative homolog in yeast is a mitochondrial translational activator...
- Magnetic resonance imaging phenotyping of Becker muscular dystrophyNeda Faridian-Aragh
Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 601 North Caroline Street, JHOC 5165, Baltimore, Maryland, 21287, USA
Muscle Nerve 50:962-7. 2014..There is little information on magnetic resonance imaging (MRI) phenotypes of Becker muscular dystrophy (BMD). This study presents the MRI phenotyping of the upper and lower extremities of a large cohort of BMD patients...
- Genetic disruption of Smad7 impairs skeletal muscle growth and regenerationTatiana V Cohen
Centre for Genetic Muscle Disorders, Hugo W Moser Research Institute at Kennedy Krieger, Baltimore, MD, USA
J Physiol 593:2479-97. 2015..Smad7 is an important regulator of muscle growth and may be a potential intracellular therapeutic target for muscle disorders...
- Therapeutic advances in muscular dystrophyDoris G Leung
Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD Departments of Neurology, Johns Hopkins School of Medicine, Baltimore, MD
Ann Neurol 74:404-11. 2013..The large number of novel pharmacologic agents in development with good biologic rationale and strong proof of concept suggests there will be an improved quality of life for individuals with muscular dystrophy...
- Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomicsSteven A Greenberg
Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Ann Neurol 71:141-5. 2012..Sequencing in this patient and family members identified the genetic basis of the previously reported 6q23 linked LGMD1D/1E to be due to an intron splice donor site mutation (IVS3+3A>G) of the desmin gene located on chromosome 2q35...
- Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host diseaseJavier Bolaños-Meade
Department of Oncology, The Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
Am J Hematol 78:306-9. 2005..The patient's strength and function improved significantly after discontinuation of hydroxychloroquine...
- QRS prolongation in myotonic muscular dystrophy and diffuse fibrosis on cardiac magnetic resonanceSaman Nazarian
Department of Medicine Cardiology, Johns Hopkins University, Baltimore, Maryland 21287, USA
Magn Reson Med 64:107-14. 2010..The SNRV of the left ventricle is associated with QRS prolongation, likely due to late depolarization of tissue within islands of patchy fibrosis. The association of SNRV with future clinical events warrants further study...
- Myostatin mutation associated with gross muscle hypertrophy in a childMarkus Schuelke
Department of Neuropediatrics, Charite, University Medical Center Berlin, Berlin, Germany
N Engl J Med 350:2682-8. 2004
- Myostatin in Muscle Growth and RegenerationKathryn Wagner; Fiscal Year: 2005..In addition to the ultimate goal of providing clinical applications for muscle disease, this multidisciplinary approach should provide excellent training for a career integrating clinical myology and molecular neuroscience. ..