Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia

by Hugo E. Tobar, Luis R. Cataldo, Trinidad González, Ricardo Rodríguez, Valentina Serrano, Antonio Arteaga, Ana Álvarez-Mercado, Carlos F. Lagos, Lucas Vicuña, José P. Miranda, Ana Pereira, Carolina Bravo, Concepción M. Aguilera, Susana Eyheramendy, Ricardo Uauy, Álvaro Martínez, Ángel Gil, Omar Francone, Attilio Rigotti, José L. Santos
Published 2019-06-01

Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array.

by Siim Sõber, Elin Org, Katrin Kepp, Peeter Juhanson, Susana Eyheramendy, Christian Gieger, Peter Lichtner, Norman Klopp, Gudrun Veldre, Margus Viigimaa, Angela Döring, Kooperative Gesundheitsforschung in der Region Augsburg Study, Margus Putku, Piret Kelgo, HYPertension in ESTonia Study, Sue Shaw-Hawkins, Philip Howard, Abiodun Onipinla, Richard J Dobson, Stephen J Newhouse, Morris Brown, Anna Dominiczak, John Connell, Nilesh Samani, Martin Farrall, MRC British Genetics of Hypertension Study, Mark J Caulfield, Patricia B Munroe, Thomas Illig, H-Erich Wichmann, Thomas Meitinger, Maris Laan
Published 2009-06-01

Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion.

by Stephen Newhouse, Martin Farrall, Chris Wallace, Mimoza Hoti, Beverley Burke, Philip Howard, Abiodun Onipinla, Kate Lee, Sue Shaw-Hawkins, Richard Dobson, Morris Brown, Nilesh J Samani, Anna F Dominiczak, John M Connell, G Mark Lathrop, Jaspal Kooner, John Chambers, Paul Elliott, Robert Clarke, Rory Collins, Maris Laan, Elin Org, Peeter Juhanson, Gudrun Veldre, Margus Viigimaa, Susana Eyheramendy, Francesco P Cappuccio, Chen Ji, Roberto Iacone, Pasquale Strazzullo, Meena Kumari, Michael Marmot, Eric Brunner, Mark Caulfield, Patricia B Munroe
Published 2009-01-01

SLC2A9 is a high-capacity urate transporter in humans.

by Mark J Caulfield, Patricia B Munroe, Deb O'Neill, Kate Witkowska, Fadi J Charchar, Manuel Doblado, Sarah Evans, Susana Eyheramendy, Abiodun Onipinla, Philip Howard, Sue Shaw-Hawkins, Richard J Dobson, Chris Wallace, Stephen J Newhouse, Morris Brown, John M Connell, Anna Dominiczak, Martin Farrall, G Mark Lathrop, Nilesh J Samani, Meena Kumari, Michael Marmot, Eric Brunner, John Chambers, Paul Elliott, Jaspal Kooner, Maris Laan, Elin Org, Elin Org, Gudrun Veldre, Margus Viigimaa, Francesco P Cappuccio, Chen Ji, Roberto Iacone, Pasquale Strazzullo, Kelle H Moley, Chris Cheeseman
Published 2008-10-01

Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.

by Sandosh Padmanabhan, Olle Melander, Toby Johnson, Anna Maria Di Blasio, Wai K Lee, Davide Gentilini, Claire E Hastie, Cristina Menni, Maria Cristina Monti, Christian Delles, Stewart Laing, Barbara Corso, Gerjan Navis, Arjan J Kwakernaak, Pim van der Harst, Murielle Bochud, Marc Maillard, Michel Burnier, Thomas Hedner, Sverre Kjeldsen, Björn Wahlstrand, Marketa Sjögren, Cristiano Fava, Martina Montagnana, Elisa Danese, Ole Torffvit, Bo Hedblad, Harold Snieder, John M C Connell, Morris Brown, Nilesh J Samani, Martin Farrall, Giancarlo Cesana, Giuseppe Mancia, Stefano Signorini, Guido Grassi, Susana Eyheramendy, H Erich Wichmann, Maris Laan, David P Strachan, Peter Sever, Denis Colm Shields, Alice Stanton, Peter Vollenweider, Alexander Teumer, Henry Völzke, Rainer Rettig, Christopher Newton-Cheh, Pankaj Arora, Feng Zhang, Nicole Soranzo, Timothy D Spector, Gavin Lucas, Sekar Kathiresan, David S Siscovick, Jian'an Luan, Ruth J F Loos, Nicholas J Wareham, Brenda W Penninx, Ilja M Nolte, Martin McBride, William H Miller, Stuart A Nicklin, Andrew H Baker, Delyth Graham, Robert A McDonald, Jill P Pell, Naveed Sattar, Paul Welsh, Global BPgen Consortium, Patricia Munroe, Mark J Caulfield, Alberto Zanchetti, Anna F Dominiczak
Published 2010-10-01