Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Colin T. Maguire"'
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:
Kasey C. Vickers, Colin T. Maguire, Robert Wolfert, Alan R. Burns, Michael Reardon, Richard Geis, Paul Holvoet, Joel D. Morrisett
Publikováno v:
Journal of Lipid Research, Vol 50, Iss 9, Pp 1735-1743 (2009)
Plasma levels of lipoprotein-associated phospholipase A2 (Lp-PLA2) and oxidized low density lipoprotein (oxLDL) have been identified as risk factors for cardiovascular disease. Lp-PLA2 is the sole enzyme responsible for the hydrolysis of oxidized pho
Externí odkaz:
https://doaj.org/article/e10dd9be43fd4eb3935e724bc0d838a2
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
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
Autor:
Colin T. Maguire, Chris Stubben, Ramona O. Hopkins, Emily L. Wilson, Matthew T. Rondina, Colin K. Grissom, Sarah J. Beesley, Angela P. Presson, Samuel M. Brown
Publikováno v:
J Intensive Care Med
Background: Cognitive impairment after sepsis is an important clinical problem. Determinants of postseptic cognitive impairment are not well understood. We thus undertook a systems biology approach to exploring a possible role for apolipoprotein E (A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83bd439b774f5d7790311f38e8c673d4
https://europepmc.org/articles/PMC8721590/
https://europepmc.org/articles/PMC8721590/
Autor:
Zheng-Yi Chen, Jun Yang, Colin T. Maguire, Nicholas C. Gosstola, Derek M. Dykxhoorn, Xuezhong Liu, Anna M. Clark, Wenliang Zhu, Zaohua Huang, Justin Lillywhite
Publikováno v:
Genes
Volume 12
Issue 6
Genes, Vol 12, Iss 805, p 805 (2021)
Volume 12
Issue 6
Genes, Vol 12, Iss 805, p 805 (2021)
Usher syndrome (USH) is the leading cause of inherited combined hearing and vision loss. As an autosomal recessive trait, it affects 15,000 people in the United States alone and is responsible for ~21% of inherited blindness and 3 to 6% of early chil
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
Autor:
Bushra Gorsi, Angelica Lopez-Izquierdo, Maureen L. Condic, Bradley L. Demarest, Colin T. Maguire, Jackson J, Martin Tristani-Firouzi, Sunderland R, H. J. Yost
Many forms of congenital heart disease (CHD) have high morbidity-mortality rates and require challenging surgeries. Human amniocytes have important stem cell characteristics and could potentially provide patient-specific tissue for repairs of some ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3aa46fbde6a2a49f55b40b3a3ab131