Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Valeska Redon"'
Autor:
Sadik H Kassim, Hui Li, Luk H Vandenberghe, Christian Hinderer, Peter Bell, Dawn Marchadier, Aisha Wilson, Debra Cromley, Valeska Redon, Hongwei Yu, James M Wilson, Daniel J Rader
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13424 (2010)
BackgroundFamilial hypercholesterolemia (FH) is an autosomal codominant disorder caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Homozygous FH patients (hoFH) have severe hypercholesterolemia leading to life threatening ather
Externí odkaz:
https://doaj.org/article/e79587d53a7b4820b632c5dfd2a0f483
Autor:
Yu-Xin Xu, Kiran Musunuru, Amy Deik, Abigail Liebow, Valeska Redon, James P. Pirruccello, Kevin Fizgerald, Kevin Trindade, Daniel J. Rader, Clary B. Clish, Haojie Yu, Chad A. Cowan, William Querbes, Sekar Kathiresan, Xiao Wang
Publikováno v:
Atherosclerosis
Background and aims Angiopoietin-like 3 (ANGPTL3) has emerged as a key regulator of lipoprotein metabolism in humans. Homozygous loss of ANGPTL3 function causes familial combined hypolipidemia characterized by low plasma levels of triglycerides (TG),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5f6bbeb54be01f1dfbc6f67fac31b11
https://europepmc.org/articles/PMC5750127/
https://europepmc.org/articles/PMC5750127/
Autor:
Albert Hofman, Megan L. Grove, Jennifer A. Brody, Adolfo Correa, Kim Lawson, Jose M. Ordovas, Yingchang Lu, André G. Uitterlinden, Riccardo E. Marioni, Nathan O. Stitziel, Oscar H. Franco, Yongmei Liu, Ingrid B. Borecki, Aron Y. Joon, Lindsay M. Reynolds, Ozren Polasek, Kelli K. Ryckman, Muredach P. Reilly, Johanna Jakobsdottir, Abbas Dehghan, L. Adrienne Cupples, Tamara B. Harris, Michael Griswold, Judy Wang, Christopher S. Carlson, Caroline Hayward, Leslie A. Lange, Stephen S. Rich, Kenneth Rice, Jacy R Crosby, Diego Ardissino, Charles Kooperberg, Gudny Eiriksdottir, Rachel H. Mackey, Ani Manichaikul, Martin Farrall, Jennifer E. Huffman, Albert V. Smith, Vilmundur Gudnason, Aniruddh P. Patel, Ruth J. F. Loos, Sumeet A. Khetarpal, Daniel J. Rader, Domenico Girelli, Eric Boerwinkle, Qunyuan Zhang, Valeska Redon, Anuj Goel, Cornelia M. van Duijn, Bruce M. Psaty, Ruth McPherson, Piera Angelica Merlini, Daniel Levy, Ian J. Deary, Christopher J. O'Donnell, Kurt Lohman, Josyf C. Mychaleckyj, Brian W. Davis, Mary F. Feitosa, Kent D. Taylor, James S. Pankow, Marju Orho-Melander, Alanna C. Morrison, Igor Rudan, Alexander P. Reiner, William E. Kraus, Ulrike Peters, Paul L. Auer, Paolo Zanoni, Svati H. Shah, Olle Melander, Jennifer G. Robinson, Joshua C. Bis, Erwin P. Bottinger, Mingyao Li, George Hindy, Omri Gottesman, Stefano Duga, Herman A. Taylor, Y.-D. Ida Chen, David S. Siscovick, Aaron Isaacs, Michael Y. Tsai, Sekar Kathiresan, James G. Wilson, Pamela J. Schreiner, Nicola Martinelli, Myriam Fornage, Serkalem Demissie, Lenore J. Launer, Hugh Watkins, Arend Voorman, Jerome I. Rotter, Jeanette M. Stafford, John M. Starr, Gina M. Peloso, Rosanna Asselta, Gail Davies, Rebecca D. Jackson
Publikováno v:
American Journal of Human Genetics, 94(2), 223-232. Cell Press
American Journal of Human Genetics, 94(2), 223-32. Cell Press
American Journal of Human Genetics, 94(2), 223-32. Cell Press
Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e58bcf3c1a5b72ab8d097dcaa1bd728d
https://doi.org/10.1016/j.ajhg.2014.01.009
https://doi.org/10.1016/j.ajhg.2014.01.009
Autor:
Valeska Redon, Donna M. Conlon, Rexford S. Ahima, Batuhan Yenilmez, Stephen L. Sturley, Sean O’Neill, Wen Lin, Miao Wang, William R. Lagor, Rajat Gupta, Daniel J. Rader, Fumin Tong, Kelsey E Jarrett, Mikhaila A Smith, David W Fields, Mary G. McCoy, Arthi Kumaravel, Jeffrey T. Billheimer
Publikováno v:
Nutrition & Diabetes
Background: ACAT-related enzyme 2 required for viability 1 (ARV1) is a putative lipid transporter of the endoplasmic reticulum that is conserved across eukaryotic species. The ARV1 protein contains a conserved N-terminal cytosolic zinc ribbon motif k