Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Megan J Puckelwartz"'
Autor:
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variatio
Externí odkaz:
https://doaj.org/article/754c31b062b14f8fb5738e1f18f62142
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
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
Autor:
Michael G. Levin, Noah L. Tsao, Pankhuri Singhal, Chang Liu, Ha My T. Vy, Ishan Paranjpe, Joshua D. Backman, Tiffany R. Bellomo, William P. Bone, Kiran J. Biddinger, Qin Hui, Ozan Dikilitas, Benjamin A. Satterfield, Yifan Yang, Michael P. Morley, Yuki Bradford, Megan Burke, Nosheen Reza, Brian Charest, Regeneron Genetics Center, Renae L. Judy, Megan J. Puckelwartz, Hakon Hakonarson, Atlas Khan, Leah C. Kottyan, Iftikhar Kullo, Yuan Luo, Elizabeth M. McNally, Laura J. Rasmussen-Torvik, Sharlene M. Day, Ron Do, Lawrence S. Phillips, Patrick T. Ellinor, Girish N. Nadkarni, Marylyn D. Ritchie, Zoltan Arany, Thomas P. Cappola, Kenneth B. Margulies, Krishna G. Aragam, Christopher M. Haggerty, Jacob Joseph, Yan V. Sun, Benjamin F. Voight, Scott M. Damrauer
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Heart failure is a major cause of cardiovascular morbidity and mortality. Here, the authors report results of a genome-wide association study meta-analysis, characterizing the role of common genetic variants in heart failure, finding overlap with com
Externí odkaz:
https://doaj.org/article/2a5c23e2c7b142b5961a518b4d904c75
Autor:
Sholeh Bazrafshan, Robert Sibilia, Saavia Girgla, Shiv Kumar Viswanathan, Megan J. Puckelwartz, Kiranpal S. Sangha, Rohit R. Singh, Mashhood Kakroo, Roman Jandarov, David M. Harris, Jack Rubinstein, Richard C. Becker, Elizabeth M. McNally, Sakthivel Sadayappan
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Background: A 25-base pair (25bp) intronic deletion in the MYBPC3 gene enriched in South Asians (SAs) is a risk allele for late-onset left ventricular (LV) dysfunction, hypertrophy, and heart failure (HF) with several forms of cardiomyopathy. However
Externí odkaz:
https://doaj.org/article/4d34f9ba9f1248d4abac472353c3f6cf
Autor:
Megan J. Puckelwartz, Lorenzo L. Pesce, Lisa M. Dellefave‐Castillo, Matthew T. Wheeler, Tess D. Pottinger, Avery C. Robinson, Samuel D. Kearns, Anthony M. Gacita, Zachary J. Schoppen, Wenyu Pan, Gene Kim, Jane E. Wilcox, Allen S. Anderson, Euan A. Ashley, Sharlene M. Day, Thomas Cappola, Gerald W. Dorn, Elizabeth M. McNally
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 7 (2021)
Background Inherited cardiomyopathies display variable penetrance and expression, and a component of phenotypic variation is genetically determined. To evaluate the genetic contribution to this variable expression, we compared protein coding variatio
Externí odkaz:
https://doaj.org/article/a95fe1f1b19b45d7abff3757ca3d6ed4
Autor:
Zachary J. Schoppen, Lauren C. Balmert, Steven White, Rachael Olson, Ponni Arunkumar, Lisa M. Dellefave‐Castillo, Megan J. Puckelwartz, Alfred L. George, Elizabeth M. McNally, Gregory Webster
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 18 (2020)
Background After sudden cardiac death in people aged
Externí odkaz:
https://doaj.org/article/fa8bbb0062e941aea47641016f970666
Autor:
Tess D. Pottinger, Megan J. Puckelwartz, Lorenzo L. Pesce, Avery Robinson, Samuel Kearns, Jennifer A. Pacheco, Laura J. Rasmussen‐Torvik, Maureen E. Smith, Rex Chisholm, Elizabeth M. McNally
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 3 (2020)
Background Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare genetic variation and its role in mediating cardiovascular phenotypes is confounded by variants of uncert
Externí odkaz:
https://doaj.org/article/4c41541b75f44159a997a45e78137fd0
Autor:
David Y. Barefield, Sean Yamakawa, Ibrahim Tahtah, Jordan J. Sell, Michael Broman, Brigitte Laforest, Sloane Harris, Alejandro Alvarez-Arce, Kelly N. Araujo, Megan J. Puckelwartz, J. Andrew Wasserstrom, Glenn I. Fishman, Elizabeth M. McNally
Publikováno v:
J Mol Cell Cardiol
A premature truncation of MYBPHL in humans and a loss of Mybphl in mice is associated with dilated cardiomyopathy, atrial and ventricular arrhythmias, and atrial enlargement. MYBPHL encodes myosin binding protein H-like (MyBP-HL). Prior work in mice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cee512467d2f2ff5a236a284459aee07
https://doi.org/10.1016/j.yjmcc.2022.04.012
https://doi.org/10.1016/j.yjmcc.2022.04.012
Autor:
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix K Etheridge, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Heather MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Publikováno v:
medRxiv
BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f4ded27efef0884af4112da59a6363
https://doi.org/10.1101/2023.03.27.23287711
https://doi.org/10.1101/2023.03.27.23287711
