Zobrazeno 1 - 10
of 76
pro vyhledávání: '"W Scott Watkins"'
Autor:
Michael J Monument, Kirsten M Johnson, Elizabeth McIlvaine, Lisa Abegglen, W Scott Watkins, Lynn B Jorde, Richard B Womer, Natalie Beeler, Laura Monovich, Elizabeth R Lawlor, Julia A Bridge, Joshua D Schiffman, Mark D Krailo, R Lor Randall, Stephen L Lessnick
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104378 (2014)
The genetics involved in Ewing sarcoma susceptibility and prognosis are poorly understood. EWS/FLI and related EWS/ETS chimeras upregulate numerous gene targets via promoter-based GGAA-microsatellite response elements. These microsatellites are highl
Externí odkaz:
https://doaj.org/article/4751ee6c02754a9b8aa6e02b50c6dade
Autor:
Jinchuan Xing, Tana Wuren, Tatum S Simonson, W Scott Watkins, David J Witherspoon, Wilfred Wu, Ga Qin, Chad D Huff, Lynn B Jorde, Ri-Li Ge
Publikováno v:
PLoS Genetics, Vol 9, Iss 7, p e1003634 (2013)
Deedu (DU) Mongolians, who migrated from the Mongolian steppes to the Qinghai-Tibetan Plateau approximately 500 years ago, are challenged by environmental conditions similar to native Tibetan highlanders. Identification of adaptive genetic factors in
Externí odkaz:
https://doaj.org/article/0b4f3ec67ee548cc95753c833edd7dd8
Autor:
Tatum S Simonson, Jinchuan Xing, Robert Barrett, Edward Jerah, Peter Loa, Yuhua Zhang, W Scott Watkins, David J Witherspoon, Chad D Huff, Scott Woodward, Bryan Mowry, Lynn B Jorde
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16338 (2011)
Humans reached present-day Island Southeast Asia (ISEA) in one of the first major human migrations out of Africa. Population movements in the millennia following this initial settlement are thought to have greatly influenced the genetic makeup of cur
Externí odkaz:
https://doaj.org/article/6c497f47d08b4295941640db01bce23a
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-19 (2022)
Abstract Background Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile
Externí odkaz:
https://doaj.org/article/34c99587bc204b03be3d81040f9fb3c0
Autor:
Raquel M. Zimmerman, Edgar J. Hernandez, W. Scott Watkins, Nathan Blue, Martin Tristani-Firouzi, Mark Yandell, Benjamin A. Steinberg
Atrial fibrillation (AF) leads to significant morbidity and mortality, which is primarily related to stroke despite effective stroke prevention therapies. There remains a critical need for personalized, socially aware, equitable stroke risk predictio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da9906a5fa67ba36fa2eb8c8a3f1b8b9
https://doi.org/10.1101/2023.02.27.23286470
https://doi.org/10.1101/2023.02.27.23286470
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:
Hong-Seok Ha, Lisa Baird, Julie Feusier, Andrew Farrell, Jinchuan Xing, Jainy Thomas, Lynn B. Jorde, W. Scott Watkins, David J. Witherspoon
Publikováno v:
Genome Research. 29:1567-1577
Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elem
Autor:
Deanne Taylor, Mark Yandell, Hakon Hakonarson, Elizabeth Goldmuntz, Fadi I Musfee, Martin Tristani-Firouzi, Bernice E. Morrow, W. Scott Watkins, Laura E. Mitchell, A. J. Agopian
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 655, p 655 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 655, p 655 (2021)
There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-
Autor:
Julie Feusier, Swapon Mallick, Clément Goubert, Jainy Thomas, Lynn B. Jorde, W. Scott Watkins
Publikováno v:
Genome Biology and Evolution
Ongoing retrotransposition of Alu, LINE-1, and SINE–VNTR–Alu elements generates diversity and variation among human populations. Previous analyses investigating the population genetics of mobile element insertions (MEIs) have been limited by popu
Autor:
Yufeng Shen, Ryan T. Sunderland, Thomas A. Miller, Wendy K. Chung, Mark Yandell, Bradley L. Demarest, H. Joseph Yost, Martin Tristani-Firouzi, Brent W. Bisgrove, Daniel Bernstein, Sergiusz Wesolowski, Christine E. Seidman, Edwin Lin, W. Scott Watkins, Elizabeth Goldmuntz, Gordon Lemmon, Jane W. Newburger, Martina Brueckner, E. Javier Hernandez, Bruce D. Gelb
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
The genetic architecture of sporadic congenital heart disease (CHD) is characterized by enrichment in damaging de novo variants in chromatin-modifying genes. To test the hypothesis that gene pathways contributing to de novo forms of CHD are distinct