Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Andrew P, Landstrom"'
Autor:
John S. Wang, Rebecca L. Koch, Daniel Kenney‐Jung, Erin Huggins, Sirajbir S. Sodhi, Andrew P. Landstrom, Dilraj S. Grewal, Priya S. Kishnani
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 313-322 (2024)
Abstract Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β‐glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical pr
Externí odkaz:
https://doaj.org/article/e5177f4c0dd24ab4b0496f0777628667
Autor:
Babken Asatryan, Brittney Murray, Rafik Tadros, Marina Rieder, Ravi A. Shah, Ghaith Sharaf Dabbagh, Andrew P. Landstrom, Stephan Dobner, Patricia B. Munroe, Christopher M. Haggerty, Argelia Medeiros‐Domingo, Anjali T. Owens, Iftikhar J. Kullo, Christopher Semsarian, Tobias Reichlin, Andreas S. Barth, Dan M. Roden, Cynthia A. James, James S. Ware, C. Anwar A. Chahal
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard‐of‐care for Mendelian cardiovascular disease (CVD). However, early identification and management of asymptoma
Externí odkaz:
https://doaj.org/article/ff5b6bf384334df490087617c1fe6fde
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Autor:
Jacob C. Scherba, Marc K. Halushka, Nicholas D. Andersen, Joseph J. Maleszewski, Andrew P. Landstrom, Nenad Bursac, Carolyn Glass
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that causes otherwise unexplained cardiac hypertrophy and is associated with sudden death. While previous studies showed the role of the epigenetic modifier Brg1 in mous
Externí odkaz:
https://doaj.org/article/9ef311b9636c43918e8da9d9268310db
Autor:
Hung X. Nguyen, Tianyu Wu, Daniel Needs, Hengtao Zhang, Robin M. Perelli, Sophia DeLuca, Rachel Yang, Michael Pan, Andrew P. Landstrom, Craig Henriquez, Nenad Bursac
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/f565703737de4d078598a60ba6a31e7c
Autor:
Hung X. Nguyen, Tianyu Wu, Daniel Needs, Hengtao Zhang, Robin M. Perelli, Sophia DeLuca, Rachel Yang, Michael Pan, Andrew P. Landstrom, Craig Henriquez, Nenad Bursac
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Abstract Therapies for cardiac arrhythmias could greatly benefit from approaches to enhance electrical excitability and action potential conduction in the heart by stably overexpressing mammalian voltage-gated sodium channels. However, the large size
Externí odkaz:
https://doaj.org/article/e4a62bc25c4744e394d6e8b834aeeb8e
Autor:
Qixin Yang, Amy M. Berkman, Jordan E. Ezekian, Michael Rosamilia, Jill A. Rosenfeld, Pengfei Liu, Andrew P. Landstrom
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 19 (2022)
Background As utilization of clinical exome sequencing (ES) has expanded, criteria for evaluating the diagnostic weight of incidentally identified variants are critical to guide clinicians and researchers. This is particularly important in genes asso
Externí odkaz:
https://doaj.org/article/ba7c8d8b2550418f872832ee25550ad8
Autor:
Merick M. Yamada, Michael B. Rosamilia, Karen E. Chiswell, Alfred D'Ottavio, Tracy Spears, Claire Osgood, Marie Lynn Miranda, Nina Forestieri, Jennifer S. Li, Andrew P. Landstrom
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Sudden infant death syndrome (SIDS) is the sudden, unexplained death of infants
Externí odkaz:
https://doaj.org/article/70faa39098d44d14baab53158df87204
Autor:
Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 17 (2021)
Background Pathogenic variation in the ATP1A3‐encoded sodium‐potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death in epilepsy, the pathop
Externí odkaz:
https://doaj.org/article/3b80305b960849069d5982056f4e303c
Autor:
Ienglam Lei, Wei Huang, Peter A. Ward, Jordan S. Pober, George Tellides, Gorav Ailawadi, Francis D. Pagani, Andrew P. Landstrom, Zhong Wang, Richard M. Mortensen, Marilia Cascalho, Jeffrey Platt, Yuqing Eugene Chen, Hugo Yu Kor Lam, Paul C. Tang
Publikováno v:
Physiological Reports, Vol 9, Iss 17, Pp n/a-n/a (2021)
Abstract Background Dysfunction and inflammation of hearts subjected to cold ischemic preservation may differ between left and right ventricles, suggesting distinct strategies for amelioration. Methods and Results Explanted murine hearts subjected to
Externí odkaz:
https://doaj.org/article/2e9b05a8de9140b6b34e1adecaeeef81