Affiliation: University of Chicago
- Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutationStephanie K Mewborn
Department of Medicine, The University of Chicago, Chicago, Illinois, United States of America
PLoS ONE 5:e14342. 2010..The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression...
- Modifiers of heart and muscle function: where genetics meets physiologyKayleigh A Swaggart
5841 South Maryland Avenue, MC 6088, Chicago, IL 606377, USA
Exp Physiol 99:621-6. 2014..In the human muscle disease Duchenne muscular dystrophy, protein coding single-nucleotide polymorphisms in LTBP4 associate with prolonged ambulation, demonstrating that modifiers identified from mouse studies translate to human disease...
- Genetic mutations and mechanisms in dilated cardiomyopathyElizabeth M McNally
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
J Clin Invest 123:19-26. 2013..Relatively few clinical clues guide the diagnosis of inherited DCM, but emerging evidence supports the use of genetic testing to identify those patients at risk for faster disease progression, congestive heart failure, and arrhythmia...
- The superhealing MRL background improves muscular dystrophyAhlke Heydemann
Department of Medicine, Section of Cardiology, 5841 S, Maryland, MC 6088, Chicago, IL, 60637, USA
Skelet Muscle 2:26. 2012..abstract:..
- The attachment disorders of muscle: failure to carb-loadElizabeth M McNally
Department of Medicine, The University of Chicago, Chicago, IL 60637, USA
J Clin Invest 122:3046-8. 2012..In this issue of the JCI, Beedle et al. used conditional gene targeting of Fktn, the gene responsible for Fukuyama congenital muscular dystrophy, to investigate a developmental requirement for glycosylation of dystroglycan...
- Interplay between heart and skeletal muscle disease in heart failure: the 2011 George E. Brown Memorial LectureElizabeth M McNally
Department of Medicine, University of Chicago, Chicago, IL 60637, USA
Circ Res 110:749-54. 2012..Together, these studies demonstrate the value of using a genetically sensitized model to uncover pathways that regulate heart failure and muscle weakness...
- Sarcomere mutations in cardiogenesis and ventricular noncompactionElizabeth McNally
Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
Trends Cardiovasc Med 19:17-21. 2009..These human genetic findings support that normal myocardial and sarcomere function are required for proper compaction and septation and that these mutations also portend a high risk of developing heart failure in later life...
- Cytoskeletal defects in cardiomyopathyElizabeth McNally
Department of Medicine, The University of Chicago, 5841 S Maryland, MC6088, Chicago, IL, USA
J Mol Cell Cardiol 35:231-41. 2003..In this review, we will examine the genetic defects that lead to cardiomyopathy and the potential means by which these varied proteins normally maintain the structural integrity of myocytes...
- NO more muscle fatigueAhlke Heydemann
Section of Cardiology, Department of Medicine, University of Chicago, 5841 S Maryland, Chicago, IL 60637, USA
J Clin Invest 119:448-50. 2009..Collectively, these findings significantly advance our understanding of exercise-induced muscle fatigue and its role in muscle disease...
- Myoferlin is required for insulin-like growth factor response and muscle growthAlexis R Demonbreun
Committee on Developmental Biology, The University of Chicago, Chicago, Illinois, USA
FASEB J 24:1284-95. 2010..Demonbreun, A. R., Posey, A. D., Heretis, K., Swaggart, K. A., Earley, J. U., Pytel, P., McNally, E. M. Myoferlin is required for insulin-like growth factor response and muscle growth...