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Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
Tobar HE, Cataldo LR, González T, Rodríguez R, Serrano V, Arteaga A, Álvarez-Mercado A, Lagos CF, Vicuña L, Miranda JP, Pereira A, Bravo C, Aguilera CM, Eyheramendy S, Uauy R, Martínez Á, Gil Á, Francone O, Rigotti A, Santos JL. Tobar HE, et al. Among authors: eyheramendy s. Lipids Health Dis. 2019 Jun 5;18(1):132. doi: 10.1186/s12944-019-1045-0. Lipids Health Dis. 2019. PMID: 31164121 Free PMC article.
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Leach IM, Ford I,… See abstract for full author list ➔ Pattaro C, et al. Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023. Nat Commun. 2016. PMID: 26831199 Free PMC article.
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
Vidal EA, Moyano TC, Bustos BI, Pérez-Palma E, Moraga C, Riveras E, Montecinos A, Azócar L, Soto DC, Vidal M, Di Genova A, Puschel K, Nürnberg P, Buch S, Hampe J, Allende ML, Cambiazo V, González M, Hodar C, Montecino M, Muñoz-Espinoza C, Orellana A, Reyes-Jara A, Travisany D, Vizoso P, Moraga M, Eyheramendy S, Maass A, De Ferrari GV, Miquel JF, Gutiérrez RA. Vidal EA, et al. Among authors: eyheramendy s. Sci Rep. 2019 Feb 14;9(1):2132. doi: 10.1038/s41598-019-39391-z. Sci Rep. 2019. PMID: 30765821 Free PMC article.
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
Org E, Eyheramendy S, Juhanson P, Gieger C, Lichtner P, Klopp N, Veldre G, Döring A, Viigimaa M, Sõber S, Tomberg K, Eckstein G; KORA; Kelgo P, Rebane T, Shaw-Hawkins S, Howard P, Onipinla A, Dobson RJ, Newhouse SJ, Brown M, Dominiczak A, Connell J, Samani N, Farrall M; BRIGHT; Caulfield MJ, Munroe PB, Illig T, Wichmann HE, Meitinger T, Laan M. Org E, et al. Among authors: eyheramendy s. Hum Mol Genet. 2009 Jun 15;18(12):2288-96. doi: 10.1093/hmg/ddp135. Epub 2009 Mar 20. Hum Mol Genet. 2009. PMID: 19304780 Free PMC article.
37 results