Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Scott Cho"'
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Mitochondrial complex I deficiency is frequent in congenital, neurologic and cardiovascular disease. Here the authors demonstrate that Complex I stimulates the turnover of a mitochondrial calcium channel, which becomes stabilized during Complex I def
Externí odkaz:
https://doaj.org/article/c2ef9f77a9ef4d22aad9d8b4d27239a7
Autor:
Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia Torres, Michael Riedel, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Shuping Lai, Chase Pribble, Lindsay Meyers, Derek Lundahl, Jake Byrnes, Julie M. Granka, Christopher A. Kauffman, Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Stacey Knight, J. Brent Muhlestein, John F. Carlquist, Jeffrey L. Anderson, Kenneth G. Chahine, Khushi U. Shah, Catherine A. Ball, Ivor J. Benjamin, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Many rare high-impact variants have been associated with disease, but the origins and functional impact are not always explored. Here, the authors trace the ancestry of a rare high impact atrial fibrillation allele in KCNQ1, and use iPSC-derived card
Externí odkaz:
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/375509dbb57e4c128813f2aea63a1296
Autor:
Chuanchau J. Jou, Cammon B. Arrington, Spencer Barnett, Jiaxiang Shen, Scott Cho, Xiaoming Sheng, Patrick C. McCullagh, Neil E. Bowles, Chase M. Pribble, Elizabeth V. Saarel, Thomas A. Pilcher, Susan P. Etheridge, Martin Tristani-Firouzi
Publikováno v:
Cellular Physiology and Biochemistry, Vol 42, Iss 5, Pp 2021-2029 (2017)
Background/Aims: Congenital Sick Sinus Syndrome (SSS) is a disorder associated with sudden cardiac death due to severe bradycardia and prolonged pauses. Mutations in HCN4, the gene encoding inward Na+/K+ current (If), have been described as a cause o
Externí odkaz:
https://doaj.org/article/7737dfc076d945d09d15b2a1c15f6913
Autor:
W. Scott Watkins, Derek Lundahl, Steven E. Boyden, Shiya Song, Mary Anne Karren, J. Brent Muhlestein, Shannon Hateley, Chuanchau J. Jou, Colin T. Maguire, Jeffrey L. Anderson, Khushi U Shah, Susan P. Etheridge, Kenneth G. Chahine, Brett Kennedy, Martin Tristani-Firouzi, Gordon Lemmon, Lindsay Meyers, Ivor J. Benjamin, Stacey Knight, Chase Pribble, Catherine A. Ball, Shuping Lai, Christopher A. Kauffman, Scott Cho, Cammon B. Arrington, Natalia S. Torres, Michael Riedel, Joshua G. Schraiber, John F. Carlquist, Jake K. Byrnes, Julie M. Granka, Neil E. Bowles, Mark Yandell, Angelica Lopez-Izquierdo
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Nature Communications
Nature Communications
The genetic architecture of atrial fibrillation (AF) encompasses low impact, common genetic variants and high impact, rare variants. Here, we characterize a high impact AF-susceptibility allele, KCNQ1 R231H, and describe its transcontinental geograph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337f8a6f32b99a4e0658f6fc97ff031f
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
https://doaj.org/article/fc7dba9c47974f5aa229e04e2b3a9d14
Autor:
Enrique Balderas, David Eberhardt, John Pleinis, Salah Sommakia, Anthony Balynas, Xue Yin, Sandra Lee, Mitchell Parker, Colin Maguire, Scott Cho, Anna Bakhtina, Ryan Bia, Marisa Friederich, Timothy Locke, Johan Van Hove, Stavros Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin Rodan, Dipayan Chaudhuri
Calcium (Ca2+) entering mitochondria potently stimulates ATP synthesis. Increases in Ca2+ preserve energy synthesis in cardiomyopathies caused by mitochondrial dysfunction, and occur due to enhanced activity of the mitochondrial Ca2+ uniporter channe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a8cd9fb8eed600b28301b0abca4f143
https://doi.org/10.21203/rs.3.rs-378028/v1
https://doi.org/10.21203/rs.3.rs-378028/v1
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature communications. 13(1)
Calcium entering mitochondria potently stimulates ATP synthesis. Increases in calcium preserve energy synthesis in cardiomyopathies caused by mitochondrial dysfunction, and occur due to enhanced activity of the mitochondrial calcium uniporter channel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc4797649bd33aab7b602e7f64bff4c
https://pubmed.ncbi.nlm.nih.gov/35725853
https://pubmed.ncbi.nlm.nih.gov/35725853
Autor:
Patrick C McCullagh, Susan P. Etheridge, Chase Pribble, Xiaoming Sheng, Spencer M. Barnett, Martin Tristani-Firouzi, Elizabeth V. Saarel, Cammon B. Arrington, Neil E. Bowles, Jiaxiang Shen, Chuanchau J. Jou, Thomas A. Pilcher, Scott Cho
Publikováno v:
Cellular Physiology and Biochemistry, Vol 42, Iss 5, Pp 2021-2029 (2017)
Background/Aims: Congenital Sick Sinus Syndrome (SSS) is a disorder associated with sudden cardiac death due to severe bradycardia and prolonged pauses. Mutations in HCN4, the gene encoding inward Na+/K+ current (If), have been described as a cause o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19dda2af977b01203729c8b4ac892617
https://doi.org/10.1159/000479897
https://doi.org/10.1159/000479897
Autor:
Enrique Coca, Karissa Wang, Natalia S. Torres, Andrew Carey, Martin Tristani-Firouzi, Colin T. Maguire, Scott Cho
Publikováno v:
Circulation Research. 125
Using a family-based approach with whole exome sequencing (WES) and custom bioinformatics tools we identified a novel mutation (M527L) in the Nuclear Factor of Activated T-Cells 1 gene (NFATc1). This nonsynonymous heterozygous substitution segregates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e61f7d6af0ec0f83588136c31b278944
https://doi.org/10.1161/res.125.suppl_1.213
https://doi.org/10.1161/res.125.suppl_1.213
Publikováno v:
European Journal of Immunology. 42:1038-1043
The altered expression of transcription factors in hematopoietic stem cells and their subsequent lineages can alter the development of lymphoid and myeloid lineages. The role of the transcriptional repressor Snai3 protein in the derivation of cells o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b1a753f8cd25c42187d750aa69bd691
https://doi.org/10.1002/eji.201142193
https://doi.org/10.1002/eji.201142193