Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Cristopher V. van Hout"'
Autor:
Hye In Kim, Bin Ye, Jeffrey Staples, Anthony Marcketta, Chuan Gao, Alan R. Shuldiner, Cristopher V. Van Hout
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100039- (2021)
Summary: Parent-of-origin (PoO) effects refer to the differential phenotypic impacts of genetic variants dependent on their parental inheritance due to imprinting. While PoO effects can influence complex traits, they may be poorly captured by models
Externí odkaz:
https://doaj.org/article/f2947829020e440683383da35b914525
Autor:
Viktoria Gusarova, Colm O’Dushlaine, Tanya M. Teslovich, Peter N. Benotti, Tooraj Mirshahi, Omri Gottesman, Cristopher V. Van Hout, Michael F. Murray, Anubha Mahajan, Jonas B. Nielsen, Lars Fritsche, Anders Berg Wulff, Daniel F. Gudbjartsson, Marketa Sjögren, Connor A. Emdin, Robert A. Scott, Wen-Jane Lee, Aeron Small, Lydia C. Kwee, Om Prakash Dwivedi, Rashmi B. Prasad, Shannon Bruse, Alexander E. Lopez, John Penn, Anthony Marcketta, Joseph B. Leader, Christopher D. Still, H. Lester Kirchner, Uyenlinh L. Mirshahi, Amr H. Wardeh, Cassandra M. Hartle, Lukas Habegger, Samantha N. Fetterolf, Teresa Tusie-Luna, Andrew P. Morris, Hilma Holm, Valgerdur Steinthorsdottir, Patrick Sulem, Unnur Thorsteinsdottir, Jerome I. Rotter, Lee-Ming Chuang, Scott Damrauer, David Birtwell, Chad M. Brummett, Amit V. Khera, Pradeep Natarajan, Marju Orho-Melander, Jason Flannick, Luca A. Lotta, Cristen J. Willer, Oddgeir L. Holmen, Marylyn D. Ritchie, David H. Ledbetter, Andrew J. Murphy, Ingrid B. Borecki, Jeffrey G. Reid, John D. Overton, Ola Hansson, Leif Groop, Svati H. Shah, William E. Kraus, Daniel J. Rader, Yii-Der I. Chen, Kristian Hveem, Nicholas J. Wareham, Sekar Kathiresan, Olle Melander, Kari Stefansson, Børge G. Nordestgaard, Anne Tybjærg-Hansen, Goncalo R. Abecasis, David Altshuler, Jose C. Florez, Michael Boehnke, Mark I. McCarthy, George D. Yancopoulos, David J. Carey, Alan R. Shuldiner, Aris Baras, Frederick E. Dewey, Jesper Gromada
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Genetic variation in ANGPTL4 is associated with lipid traits. Here, the authors find that predicted loss-of-function variants in ANGPTL4 are associated with glucose homeostasis and reduced risk of type 2 diabetes and that Angptl4 −/− mice on a hi
Externí odkaz:
https://doaj.org/article/a3d832a109514250b3a42f9eaa1a1b95
Autor:
Shona M. Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Cristopher V. van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka
Publikováno v:
Kerr, S, Cowan, E, Klaric, L, Bell, C, O'Sullivan, D, Buchanan, D, Grzymski, J J, van Hout, C V, Tzoneva, G, Shuldiner, A R, Wilson, J F & Miedzybrodzka, Z 2023, ' Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians ', European Journal of Human Genetics, vol. 31, no. 5, pp. 588–595 . https://doi.org/10.1038/s41431-023-01297-w
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency
Autor:
Yunhua L, Muller, Michael, Saporito, Samantha, Day, Khushdeep, Bandesh, Cigdem, Koroglu, Sayuko, Kobes, William C, Knowler, Robert L, Hanson, Cristopher V, Van Hout, Alan R, Shuldiner, Clifton, Bogardus, Leslie J, Baier
Publikováno v:
European Journal of Human Genetics. 30:1159-1166
Insulin-like growth factor binding protein 4 (IGFBP4) is involved in adipogenesis, and IGFBP4 null mice have decreased body fat through decreased PPAR-γ expression. In the current study, we assessed whether variation in the IGFBP4 coding region infl
Autor:
Elizabeth A. Streeten, Braxton D. Mitchell, Toni I. Pollin, Megan Lynch, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Kristin A. Maloney, Huichun Xu, Cristopher V. Van Hout
Publikováno v:
American Journal of Medical Genetics Part A. 185:3476-3484
Founder populations may be enriched with certain genetic variants of high clinical impact compared to nonfounder populations due to bottleneck events and genetic drift. Using exome sequencing (ES), we quantified the load of pathogenic variants that m
Autor:
Chuan Gao, Anthony Marcketta, Joshua D. Backman, Colm O'Dushlaine, Jeffrey Staples, Manuel Allen Revez Ferreira, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Tooraj Mirshahi, null Regeneron Genetics Center, null Geisinger Regeneron Discovehr Collaboration, Aris Baras, Gonçalo Abecasis, Alan R. Shuldiner, Cristopher V. Van Hout, Shane McCarthy
Publikováno v:
Genetic Epidemiology
Serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are biomarkers for liver health. Here we report the largest genome‐wide association analysis to date of serum ALT and AST levels in over 388k people of European ancestry from
Autor:
Robert L. Hanson, Clifton Bogardus, Nehal Gosalia, Leslie J. Baier, Robert C. Williams, Alan R. Shuldiner, Cristopher V. Van Hout, Çiğdem Köroğlu, William C. Knowler
Publikováno v:
Hum Immunol
While the samples and data from the Pima Indians of the Gila River Indian Community have been included in many international HLA workshops and conferences and have been the focus of numerous population reports and the source of novel alleles at the c
Autor:
Shona M. Kerr, Emma Cowan, Lucija Klaric, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Regeneron Genetics Center, Cristopher V. van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka
The BRCA1 pathogenic missense variant c.5207T>C; p.Val1736Ala (V1736A) was multiply ascertained in the clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. Oral history and birth, marriage an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e9964e191bcb883dfb2748b7db838b4
https://doi.org/10.1101/2022.07.18.22276644
https://doi.org/10.1101/2022.07.18.22276644
Autor:
Elizabeth A. Streeten, John D. Overton, Jeffrey S. Reid, Braxton D. Mitchell, Feng Jin, Mao Fu, James A. Perry, Xuesi Wan, Kathleen A. Ryan, Yanbing Li, Aris Baras, Haichen Zhang, Zhe Han, Alan R. Shuldiner, Cristopher V. Van Hout
Publikováno v:
Journal of the American Society of Nephrology. 32:756-765
Background Potassium levels regulate multiple physiologic processes. The heritability of serum potassium level is moderate, with published estimates varying from 17% to 60%, suggesting genetic influences. However, the genetic determinants of potassiu
Autor:
David J. Carey, Cristen J. Willer, Anthony Marcketta, Claudia Schurmann, Leland Barnard, John Penn, Suganthi Balasubramanian, Daren Liu, Joseph B. Leader, Gonçalo R. Abecasis, Marcus B. Jones, John C. Whittaker, Ashutosh K. Pandey, Ida Surakka, David H. Ledbetter, Evan Maxwell, John D. Overton, Andrew Blumenfeld, Michael N. Cantor, Robert A. Scott, Wendy K. Chung, Alexander H. Li, Alexander Lopez, Joshua D. Backman, Matthew R. Nelson, Jeffrey Staples, Giovanni Coppola, Jonathan Marchini, Xiaodong Bai, Kavita Praveen, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Aris N. Economides, Shareef Khalid, William J Salerno, Bin Ye, Cristopher V. Van Hout, Kristian Hveem, Jeffrey G. Reid, Colm O'Dushlaine, Joshua D. Hoffman, Laura M. Yerges-Armstrong, Nilanjana Banerjee, Sean O'Keeffe, Ioanna Tachmazidou, Lon R. Cardon, Alicia Hawes, Aris Baras, Ashish Yadav, George D. Yancopoulos, Lukas Habegger
Publikováno v:
Nature
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study