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https://www.readbyqxmd.com/read/27199446/molecular-characterization-of-the-lipid-genome-wide-association-study-signal-on-chromosome-18q11-2-implicates-hnf4a-mediated-regulation-of-the-tmem241-gene
#1
Alejandra Rodríguez, Luis Gonzalez, Arthur Ko, Marcus Alvarez, Zong Miao, Yash Bhagat, Elina Nikkola, Ivette Cruz-Bautista, Olimpia Arellano-Campos, Linda L Muñoz-Hernández, Maria-Luisa Ordóñez-Sánchez, Rosario Rodriguez-Guillen, Karen L Mohlke, Markku Laakso, Teresa Tusie-Luna, Carlos A Aguilar-Salinas, Päivi Pajukanta
OBJECTIVE: We recently identified a locus on chromosome 18q11.2 for high serum triglycerides in Mexicans. We hypothesize that the lead genome-wide association study single-nucleotide polymorphism rs9949617, or its linkage disequilibrium proxies, regulates 1 of the 5 genes in the triglyceride-associated region. APPROACH AND RESULTS: We performed a linkage disequilibrium analysis and found 9 additional variants in linkage disequilibrium (r(2)>0.7) with the lead single-nucleotide polymorphism...
July 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/25476127/integrated-differential-transcriptome-maps-of-acute-megakaryoblastic-leukemia-amkl-in-children-with-or-without-down-syndrome-ds
#2
COMPARATIVE STUDY
Maria Chiara Pelleri, Allison Piovesan, Maria Caracausi, Anna Concetta Berardi, Lorenza Vitale, Pierluigi Strippoli
BACKGROUND: The incidence of Acute Megakaryoblastic Leukemia (AMKL) is 500-fold higher in children with Down Syndrome (DS) compared with non-DS children, but the relevance of trisomy 21 as a specific background of AMKL in DS is still an open issue. Several Authors have determined gene expression profiles by microarray analysis in DS and/or non-DS AMKL. Due to the rarity of AMKL, these studies were typically limited to a small group of samples. METHODS: We generated integrated quantitative transcriptome maps by systematic meta-analysis from any available gene expression profile dataset related to AMKL in pediatric age...
2014: BMC Medical Genomics
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