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A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.
Sanchez-Contreras M, Sweetwyne MT, Kohrn BF, Tsantilas KA, Hipp MJ, Schmidt EK, Fredrickson J, Whitson JA, Campbell MD, Rabinovitch PS, Marcinek DJ, Kennedy SR. Sanchez-Contreras M, et al. Nucleic Acids Res. 2021 Nov 8;49(19):11103-11118. doi: 10.1093/nar/gkab901. Nucleic Acids Res. 2021. PMID: 34614167 Free PMC article.
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.
Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, Ross OA. Sanchez-Contreras MY, et al. Mol Neurodegener. 2018 Jul 9;13(1):37. doi: 10.1186/s13024-018-0267-3. Mol Neurodegener. 2018. PMID: 29986742 Free PMC article.
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2015 Sep 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13. Am J Hum Genet. 2015. PMID: 26279204 Free PMC article.
APOE ε2 is associated with increased tau pathology in primary tauopathy.
Zhao N, Liu CC, Van Ingelgom AJ, Linares C, Kurti A, Knight JA, Heckman MG, Diehl NN, Shinohara M, Martens YA, Attrebi ON, Petrucelli L, Fryer JD, Wszolek ZK, Graff-Radford NR, Caselli RJ, Sanchez-Contreras MY, Rademakers R, Murray ME, Koga S, Dickson DW, Ross OA, Bu G. Zhao N, et al. Among authors: sanchez contreras my. Nat Commun. 2018 Oct 22;9(1):4388. doi: 10.1038/s41467-018-06783-0. Nat Commun. 2018. PMID: 30348994 Free PMC article.
51 results