Výsledky vyhledávání - "Lisa Dellefave"

Akademický článek

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias

Autor: Joyce C. Ohiri, Lisa Dellefave‐Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y. Barefield, Dominic Fullenkamp, Anthony M. Gacita, Tanner O. Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L. George, Alexis R. Demonbreun, Megan J. Puckelwartz, Elizabeth M. McNally

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 10 (2024)

Background Many cardiomyopathy‐associated FLNC pathogenic variants are heterozygous truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia triggers in filaminopathy are incompletely understood. Methods and Results We

Externí odkaz: https://doaj.org/article/f77896bb0287466494c3807c1849c7e0

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Akademický článek

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy

Autor: Rabia S. Khan, Elfriede Pahl, Lisa Dellefave‐Castillo, Karen Rychlik, Alexander Ing, Kai Lee Yap, Casey Brew, Jamie R. Johnston, Elizabeth M. McNally, Gregory Webster

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 1 (2022)

Background Pediatric dilated cardiomyopathy (DCM) is a well‐known clinical entity; however, phenotype–genotype correlations are inadequately described. Our objective was to provide genotype associations with life‐threatening cardiac outcomes in

Externí odkaz: https://doaj.org/article/5ce7e75a69514743a4a322366f814c0e

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Akademický článek

Genotype-Specific Interaction of Latent TGFβ Binding Protein 4 with TGFβ.

Autor: Kay-Marie Lamar, Tamari Miller, Lisa Dellefave-Castillo, Elizabeth M McNally

Publikováno v: PLoS ONE, Vol 11, Iss 2, p e0150358 (2016)

Latent TGFβ binding proteins are extracellular matrix proteins that bind latent TGFβ to form the large latent complex. Nonsynonymous polymorphisms in LTBP4, a member of the latent TGFβ binding protein gene family, have been linked to several human

Externí odkaz: https://doaj.org/article/6efaed1d75d144109694107b5491141b

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Akademický článek

Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.

Autor: Stephanie K Mewborn, Megan J Puckelwartz, Fida Abuisneineh, John P Fahrenbach, Yuan Zhang, Heather MacLeod, Lisa Dellefave, Peter Pytel, Sara Selig, Christine M Labno, Karen Reddy, Harinder Singh, Elizabeth McNally

Publikováno v: PLoS ONE, Vol 5, Iss 12, p e14342 (2010)

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 multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought

Externí odkaz: https://doaj.org/article/df610e50d6a54be183c634a8b9421c6f

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Abstract P2118: Modeling Arrhythmia Risk In Human Stem Cell Derived Cardiomyocytes

Autor: Malorie Blancard, K. A Fetterman, Davi M Lyra Leite, Lisa Dellefave-Castillo, Gregory G Webster, Megan Puckelwartz, Elizabeth M McNally, Alfred L George, Paul W Burridge

Publikováno v: Circulation Research. 131

In older (45+ years) populations, sudden cardiac death (SCD) is primarily caused by ischemic heart disease while in younger populations, SCD is often due to genetic causes. Despite recent advances in risk stratification based on clinical evaluation a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::551684fb65410e3e85686538c2d77c2b
https://doi.org/10.1161/res.131.suppl_1.p2118

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Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP

Autor: Hilary S. McElligott, Aleksandra Laboski, Defne Magnetta, Alfred L. George, Elizabeth M. McNally, Amber E. Kofman, Gregory Webster, Nicoleta C. Arva, Meredith A Reynolds, Lisa Dellefave-Castillo, Megan J. Puckelwartz

Publikováno v: Am J Med Genet A

Patients with biallelic mutations in the nuclear-encoded mitochondrial gene C1QBP/p32 have been described with syndromic features and autosomal recessive cardiomyopathy. We describe the clinical course in two siblings who developed cardiomyopathy and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e50e14fe6155ec92589ff56f4bfb31d
https://doi.org/10.1002/ajmg.a.62262

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Abstract 9751: Combined Cardiomyopathy and Arrhythmia Genetic Testing Identifies Clinical Management Implications and Unexpected Results

Autor: Lisa Dellefave-Castillo, Allison Cirino, Tom E Callis, Ed Esplin, Kathryn Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert Nussbaum, Elizabeth McNally

Publikováno v: Circulation. 144

Introduction: Genetic testing for heritable cardiomyopathy and arrhythmia syndromes has evolved rapidly and is now recommended by cardiology professional societies to establish a genetic etiology, guide clinical management, and identify at-risk famil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::013c83c23c6937a5f768a2be5db758ac
https://doi.org/10.1161/circ.144.suppl_1.9751

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Genomic Autopsy of Sudden Deaths in Young Individuals

Publikováno v: JAMA Cardiol

Importance Postmortem genetic testing of young individuals with sudden death has previously identified pathogenic gene variants. However, prior studies primarily considered highly penetrant monogenic variants, often without detailed decedent and fami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b996eb97991e10b44daf9ccf83ebed
https://europepmc.org/articles/PMC8358810/

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