Search Results - "Fahrenbach, John P."

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair by Swaggart, Kayleigh A., Demonbreun, Alexis R., Vo, Andy H., Swanson, Kaitlin E., Kim, Ellis Y., Fahrenbach, John P., Holley-Cuthrell, Jenan, Eskin, Ascia, Chen, Zugen, Squire, Kevin, Heydemann, Ahlke, Palmer, Abraham A., Nelson, Stanley F., McNally, Elizabeth M.

“…Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic…”
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Population-Based Variation in Cardiomyopathy Genes by Golbus, Jessica R, Puckelwartz, Megan J, Fahrenbach, John P, Dellefave-Castillo, Lisa M, Wolfgeher, Don, McNally, Elizabeth M

“…BACKGROUND—Hypertrophic cardiomyopathy and dilated cardiomyopathy arise from mutations in genes encoding sarcomere proteins including MYH7, MYBPC3, and TTN…”
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Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation by Mewborn, Stephanie K, Puckelwartz, Megan J, Abuisneineh, Fida, Fahrenbach, John P, Zhang, Yuan, MacLeod, Heather, Dellefave, Lisa, Pytel, Peter, Selig, Sara, Labno, Christine M, Reddy, Karen, Singh, Harinder, McNally, Elizabeth

“…Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause…”
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Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy by DEMONBREUN, Alexis R, FAHRENBACH, John P, DEVEAUX, Kieran, EARLEY, Judy U, PYTEL, Peter, MCNALLY, Elizabeth M

“…Loss-of-function mutations in dysferlin cause muscular dystrophy, and dysferlin has been implicated in resealing membrane disruption in myofibers. Given the…”
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The CO-Regulation Database (CORD): a tool to identify coordinately expressed genes by Fahrenbach, John P, Andrade, Jorge, McNally, Elizabeth M

“…Meta-analysis of gene expression array databases has the potential to reveal information about gene function. The identification of gene-gene interactions may…”
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The relevance of non-excitable cells for cardiac pacemaker function by Fahrenbach, John P., Mejia‐Alvarez, Rafael, Banach, Kathrin

“…Age-dependent changes in the architecture of the sinus node comprise an increasing ratio between fibroblasts and cardiomyocytes. This change is discussed as a…”
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TBX5 drives Scn5a expression to regulate cardiac conduction system function by Arnolds, David E, Liu, Fang, Fahrenbach, John P, Kim, Gene H, Schillinger, Kurt J, Smemo, Scott, McNally, Elizabeth M, Nobrega, Marcelo A, Patel, Vickas V, Moskowitz, Ivan P

“…Cardiac conduction system (CCS) disease, which results in disrupted conduction and impaired cardiac rhythm, is common with significant morbidity and mortality…”
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Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy by Golbus, Jessica R, Puckelwartz, Megan J, Dellefave-Castillo, Lisa, Fahrenbach, John P, Nelakuditi, Viswateja, Pesce, Lorenzo L, Pytel, Peter, McNally, Elizabeth M

“…BACKGROUND—Cardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to…”
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Abcc9 is required for the transition to oxidative metabolism in the newborn heart by Fahrenbach, John P., Stoller, Douglas, Kim, Gene, Aggarwal, Nitin, Yerokun, Babatunde, Earley, Judy U., Hadhazy, Michele, Shi, Nian‐Qing, Makielski, Jonathan C., McNally, Elizabeth M.

“…ABSTRACT The newborn heart adapts to postnatal life by shifting from a fetal glycolytic metabolism to a mitochondrial oxidative metabolism. Abcc9, an…”
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Decreased intercellular coupling improves the function of cardiac pacemakers derived from mouse embryonic stem cells by Fahrenbach, John P, Ai, Xun, Banach, Kathrin

“…Abstract The aim of this study was to determine if embryonic stem cell derived cardiomyocyte aggregates (ESdCs) can act as pacemakers in spontaneously active…”
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Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation by Stoller, Douglas A, Fahrenbach, John P, Chalupsky, Karel, Tan, Bi-Hua, Aggarwal, Nitin, Metcalfe, Jamie, Hadhazy, Michele, Shi, Nian-Qing, Makielski, Jonathan C, McNally, Elizabeth M

“…Sulfonylurea receptor-containing ATP-sensitive potassium (K(ATP)) channels have been implicated in cardioprotection, but the cell type and constitution of…”
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Response to Letter Regarding Article, “Population-Based Variation in Cardiomyopathy Genes” by Golbus, Jessica R, Puckelwartz, Megan J, Fahrenbach, John P, Dellefave-Castillo, Lisa M, Wolfgeher, Don, McNally, Elizabeth M

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