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A naturally occurring variant of SHLP2 is a protective factor in Parkinson's disease.
Kim SJ, Miller B, Hartel NG, Ramirez R 2nd, Braniff RG, Leelaprachakul N, Huang A, Wang Y, Arpawong TE, Crimmins EM, Wang P, Sun X, Liu C, Levy D, Yen K, Petzinger GM, Graham NA, Jakowec MW, Cohen P. Kim SJ, et al. Among authors: wang y, wang p. Mol Psychiatry. 2024 Feb;29(2):505-517. doi: 10.1038/s41380-023-02344-0. Epub 2024 Jan 3. Mol Psychiatry. 2024. PMID: 38167865 Free PMC article.
Epigenome-wide association study of mitochondrial genome copy number.
Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Joehanes R, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Wang P, et al. Hum Mol Genet. 2021 Dec 27;31(2):309-319. doi: 10.1093/hmg/ddab240. Hum Mol Genet. 2021. PMID: 34415308 Free PMC article.
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs.
Castellani CA, Longchamps RJ, Sumpter JA, Newcomb CE, Lane JA, Grove ML, Bressler J, Brody JA, Floyd JS, Bartz TM, Taylor KD, Wang P, Tin A, Coresh J, Pankow JS, Fornage M, Guallar E, O'Rourke B, Pankratz N, Liu C, Levy D, Sotoodehnia N, Boerwinkle E, Arking DE. Castellani CA, et al. Among authors: wang p. Genome Med. 2020 Sep 28;12(1):84. doi: 10.1186/s13073-020-00778-7. Genome Med. 2020. PMID: 32988399 Free PMC article.
Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.
Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups. Zhang Y, et al. Neurology. 2023 May 2;100(18):e1930-e1943. doi: 10.1212/WNL.0000000000207157. Epub 2023 Mar 16. Neurology. 2023. PMID: 36927883 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Among authors: wang h. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
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