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Page 1
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
Bustos BI, Pérez-Palma E, Buch S, Azócar L, Riveras E, Ugarte GD, Toliat M, Nürnberg P, Lieb W, Franke A, Hinz S, Burmeister G, von Schönfels W, Schafmayer C, Völzke H, Völker U, Homuth G, Lerch MM, Santos JL, Puschel K, Bambs C, Roa JC, Gutiérrez RA, Hampe J, De Ferrari GV, Miquel JF. Bustos BI, et al. Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z. Sci Rep. 2019. PMID: 30692554 Free PMC article.
A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease.
Alarcón MA, Medina MA, Hu Q, Avila ME, Bustos BI, Pérez-Palma E, Peralta A, Salazar P, Ugarte GD, Reyes AE, Martin GM, Opazo C, Moon RT, De Ferrari GV. Alarcón MA, et al. Among authors: bustos bi. Neurobiol Aging. 2013 Jun;34(6):1709.e9-18. doi: 10.1016/j.neurobiolaging.2012.11.004. Epub 2012 Dec 6. Neurobiol Aging. 2013. PMID: 23218566
Wnt/β-catenin signaling in Alzheimer's disease.
De Ferrari GV, Avila ME, Medina MA, Perez-Palma E, Bustos BI, Alarcon MA. De Ferrari GV, et al. Among authors: bustos bi. CNS Neurol Disord Drug Targets. 2014;13(5):745-54. doi: 10.2174/1871527312666131223113900. CNS Neurol Disord Drug Targets. 2014. PMID: 24365184 Review.
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
Pérez-Palma E, Bustos BI, Villamán CF, Alarcón MA, Avila ME, Ugarte GD, Reyes AE, Opazo C, De Ferrari GV; Alzheimer's Disease Neuroimaging Initiative; NIA-LOAD/NCRAD Family Study Group. Pérez-Palma E, et al. Among authors: bustos bi. PLoS One. 2014 Apr 22;9(4):e95413. doi: 10.1371/journal.pone.0095413. eCollection 2014. PLoS One. 2014. PMID: 24755620 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: bustos bi. Sci Rep. 2019 Feb 14;9(1):2132. doi: 10.1038/s41598-019-39391-z. Sci Rep. 2019. PMID: 30765821 Free PMC article.
Copy number variants in lipid metabolism genes are associated with gallstones disease in men.
Pérez-Palma E, Bustos BI, Lal D, Buch S, Azocar L, Toliat MR, Lieb W, Franke A, Hinz S, Burmeister G, von Shönfels W, Schafmayer C, Ahnert P, Völzke H, Völker U, Homuth G, Lerch MM, Puschel K, Gutiérrez RA, Hampe J, Nürnberg P, Miquel JF, De Ferrari GV. Pérez-Palma E, et al. Among authors: bustos bi. Eur J Hum Genet. 2020 Feb;28(2):264-273. doi: 10.1038/s41431-019-0501-7. Epub 2019 Sep 4. Eur J Hum Genet. 2020. PMID: 31485028 Free PMC article.
Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers.
Zollner L, Boekstegers F, Barahona Ponce C, Scherer D, Marcelain K, Gárate-Calderón V, Waldenberger M, Morales E, Rojas A, Munoz C, Retamales J, De Toro G, Kortmann AV, Barajas O, Rivera MT, Cortés A, Loader D, Saavedra J, Gutiérrez L, Ortega A, Bertrán ME, Bartolotti L, Gabler F, Campos M, Alvarado J, Moisán F, Spencer L, Nervi B, Carvajal D, Losada H, Almau M, Fernández P, Olloquequi J, Carter AR, Miquel Poblete JF, Bustos BI, Fuentes Guajardo M, Gonzalez-Jose R, Bortolini MC, Acuña-Alonzo V, Gallo C, Ruiz Linares A, Rothhammer F, Lorenzo Bermejo J. Zollner L, et al. Among authors: bustos bi. Cancers (Basel). 2023 Aug 9;15(16):4033. doi: 10.3390/cancers15164033. Cancers (Basel). 2023. PMID: 37627062 Free PMC article.
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC). Lubbe SJ, et al. Among authors: bustos bi. Hum Mol Genet. 2021 Mar 25;30(1):78-86. doi: 10.1093/hmg/ddaa273. Hum Mol Genet. 2021. PMID: 33448283 Free PMC article.
24 results