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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L,… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: van eijk kr, van den akker e, van schoor nm, van berckel bnm, van der flier wm, van gerpen ja. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
Genomics of human longevity.
Slagboom PE, Beekman M, Passtoors WM, Deelen J, Vaarhorst AA, Boer JM, van den Akker EB, van Heemst D, de Craen AJ, Maier AB, Rozing M, Mooijaart SP, Heijmans BT, Westendorp RG. Slagboom PE, et al. Among authors: van den akker eb, van heemst d. Philos Trans R Soc Lond B Biol Sci. 2011 Jan 12;366(1561):35-42. doi: 10.1098/rstb.2010.0284. Philos Trans R Soc Lond B Biol Sci. 2011. PMID: 21115528 Free PMC article. Review.
Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
Deelen J, Beekman M, Uh HW, Helmer Q, Kuningas M, Christiansen L, Kremer D, van der Breggen R, Suchiman HE, Lakenberg N, van den Akker EB, Passtoors WM, Tiemeier H, van Heemst D, de Craen AJ, Rivadeneira F, de Geus EJ, Perola M, van der Ouderaa FJ, Gunn DA, Boomsma DI, Uitterlinden AG, Christensen K, van Duijn CM, Heijmans BT, Houwing-Duistermaat JJ, Westendorp RG, Slagboom PE. Deelen J, et al. Aging Cell. 2011 Aug;10(4):686-98. doi: 10.1111/j.1474-9726.2011.00705.x. Epub 2011 May 6. Aging Cell. 2011. PMID: 21418511 Free PMC article.
Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.
Deelen J, Uh HW, Monajemi R, van Heemst D, Thijssen PE, Böhringer S, van den Akker EB, de Craen AJ, Rivadeneira F, Uitterlinden AG, Westendorp RG, Goeman JJ, Slagboom PE, Houwing-Duistermaat JJ, Beekman M. Deelen J, et al. Among authors: van den akker eb, van heemst d. Age (Dordr). 2013 Feb;35(1):235-49. doi: 10.1007/s11357-011-9340-3. Epub 2011 Nov 24. Age (Dordr). 2013. PMID: 22113349 Free PMC article.
Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study.
Beekman M, Blanché H, Perola M, Hervonen A, Bezrukov V, Sikora E, Flachsbart F, Christiansen L, De Craen AJ, Kirkwood TB, Rea IM, Poulain M, Robine JM, Valensin S, Stazi MA, Passarino G, Deiana L, Gonos ES, Paternoster L, Sørensen TI, Tan Q, Helmer Q, van den Akker EB, Deelen J, Martella F, Cordell HJ, Ayers KL, Vaupel JW, Törnwall O, Johnson TE, Schreiber S, Lathrop M, Skytthe A, Westendorp RG, Christensen K, Gampe J, Nebel A, Houwing-Duistermaat JJ, Slagboom PE, Franceschi C; GEHA consortium. Beekman M, et al. Among authors: van den akker eb. Aging Cell. 2013 Apr;12(2):184-93. doi: 10.1111/acel.12039. Epub 2013 Feb 6. Aging Cell. 2013. PMID: 23286790 Free PMC article.
Meta-analysis on blood transcriptomic studies identifies consistently coexpressed protein-protein interaction modules as robust markers of human aging.
van den Akker EB, Passtoors WM, Jansen R, van Zwet EW, Goeman JJ, Hulsman M, Emilsson V, Perola M, Willemsen G, Penninx BW, Heijmans BT, Maier AB, Boomsma DI, Kok JN, Slagboom PE, Reinders MJ, Beekman M. van den Akker EB, et al. Among authors: van zwet ew. Aging Cell. 2014 Apr;13(2):216-25. doi: 10.1111/acel.12160. Epub 2013 Nov 19. Aging Cell. 2014. PMID: 24119000 Free PMC article.
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
Deelen J, Beekman M, Uh HW, Broer L, Ayers KL, Tan Q, Kamatani Y, Bennet AM, Tamm R, Trompet S, Guðbjartsson DF, Flachsbart F, Rose G, Viktorin A, Fischer K, Nygaard M, Cordell HJ, Crocco P, van den Akker EB, Böhringer S, Helmer Q, Nelson CP, Saunders GI, Alver M, Andersen-Ranberg K, Breen ME, van der Breggen R, Caliebe A, Capri M, Cevenini E, Collerton JC, Dato S, Davies K, Ford I, Gampe J, Garagnani P, de Geus EJ, Harrow J, van Heemst D, Heijmans BT, Heinsen FA, Hottenga JJ, Hofman A, Jeune B, Jonsson PV, Lathrop M, Lechner D, Martin-Ruiz C, Mcnerlan SE, Mihailov E, Montesanto A, Mooijaart SP, Murphy A, Nohr EA, Paternoster L, Postmus I, Rivadeneira F, Ross OA, Salvioli S, Sattar N, Schreiber S, Stefánsson H, Stott DJ, Tiemeier H, Uitterlinden AG, Westendorp RG, Willemsen G, Samani NJ, Galan P, Sørensen TI, Boomsma DI, Jukema JW, Rea IM, Passarino G, de Craen AJ, Christensen K, Nebel A, Stefánsson K, Metspalu A, Magnusson P, Blanché H, Christiansen L, Kirkwood TB, van Duijn CM, Franceschi C, Houwing-Duistermaat JJ, Slagboom PE. Deelen J, et al. Among authors: van den akker eb, van duijn cm, van heemst d, van der breggen r. Hum Mol Genet. 2014 Aug 15;23(16):4420-32. doi: 10.1093/hmg/ddu139. Epub 2014 Mar 31. Hum Mol Genet. 2014. PMID: 24688116 Free PMC article.
Exome and whole genome sequencing in aging and longevity.
van den Akker EB, Deelen J, Slagboom PE, Beekman M. van den Akker EB, et al. Adv Exp Med Biol. 2015;847:127-39. doi: 10.1007/978-1-4939-2404-2_6. Adv Exp Med Biol. 2015. PMID: 25916589 Review.
413 results