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The Parkinson's disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release.
Apicco DJ, Shlevkov E, Nezich CL, Tran DT, Guilmette E, Nicholatos JW, Bantle CM, Chen Y, Glajch KE, Abraham NA, Dang LT, Kaynor GC, Tsai EA, Nguyen KH, Groot J, Liu Y, Weihofen A, Hurt JA, Runz H, Hirst WD. Apicco DJ, et al. Among authors: tsai ea. Proc Natl Acad Sci U S A. 2021 Jan 5;118(1):e2006476118. doi: 10.1073/pnas.2006476118. Proc Natl Acad Sci U S A. 2021. PMID: 33443159 Free PMC article.
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression.
Tian R, Ge T, Kweon H, Rocha DB, Lam M, Liu JZ, Singh K; Biogen Biobank Team; Levey DF, Gelernter J, Stein MB, Tsai EA, Huang H, Chabris CF, Lencz T, Runz H, Chen CY. Tian R, et al. Among authors: tsai ea. Nat Commun. 2024 Feb 26;15(1):1755. doi: 10.1038/s41467-024-45774-2. Nat Commun. 2024. PMID: 38409228 Free PMC article.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.
Ruotsalainen SE, Surakka I, Mars N, Karjalainen J, Kurki M, Kanai M, Krebs K, Graham S, Mishra PP, Mishra BH, Sinisalo J, Palta P, Lehtimäki T, Raitakari O; Estonian Biobank Research Team; Milani L; Biobank Japan Project; Okada Y; FinnGen; Palotie A, Widen E, Daly MJ, Ripatti S. Ruotsalainen SE, et al. Commun Biol. 2022 Aug 17;5(1):802. doi: 10.1038/s42003-022-03552-0. Commun Biol. 2022. PMID: 35978133 Free PMC article.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Karczewski KJ, et al. Among authors: tsai ea. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. eCollection 2022 Sep 14. Cell Genom. 2022. PMID: 36778668 Free PMC article.
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.
de Klein N, Tsai EA, Vochteloo M, Baird D, Huang Y, Chen CY, van Dam S, Oelen R, Deelen P, Bakker OB, El Garwany O, Ouyang Z, Marshall EE, Zavodszky MI, van Rheenen W, Bakker MK, Veldink J, Gaunt TR, Runz H, Franke L, Westra HJ. de Klein N, et al. Among authors: tsai ea. Nat Genet. 2023 Mar;55(3):377-388. doi: 10.1038/s41588-023-01300-6. Epub 2023 Feb 23. Nat Genet. 2023. PMID: 36823318 Free PMC article.
Rare genetic variants impact muscle strength.
Huang Y, Bodnar D, Chen CY, Sanchez-Andrade G, Sanderson M; Biogen Biobank Team; Shi J, Meilleur KG, Hurles ME, Gerety SS, Tsai EA, Runz H. Huang Y, et al. Among authors: tsai ea. Nat Commun. 2023 Jun 10;14(1):3449. doi: 10.1038/s41467-023-39247-1. Nat Commun. 2023. PMID: 37301943 Free PMC article.
38 results