Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Khushi U Shah"'
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:
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