Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: TMEM106B: S134N; rs147889591
Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.
Acta Neuropathologica
Lee, Edward B EB; Porta, Sílvia S; Michael Baer, G G; Xu, Yan Y; Suh, EunRan E; Kwong, Linda K LK; Elman, Lauren L; Grossman, Murray M; Lee, Virginia M-Y VM; Irwin, David J DJ; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ
Publication Date: 2017-07
Variant appearance in text: TMEM106B: 401G>A; Ser134Asn
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02
Variant appearance in text: TMEM106B: S134N; rs147889591
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.
Brain : A Journal Of Neurology
van der Zee, Julie J; Van Langenhove, Tim T; Kleinberger, Gernot G; Sleegers, Kristel K; Engelborghs, Sebastiaan S; Vandenberghe, Rik R; Santens, Patrick P; Van den Broeck, Marleen M; Joris, Geert G; Brys, Jolien J; Mattheijssens, Maria M; Peeters, Karin K; Cras, Patrick P; De Deyn, Peter P PP; Cruts, Marc M; Van Broeckhoven, Christine C
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.
Neurology
Finch, N N; Carrasquillo, M M MM; Baker, M M; Rutherford, N J NJ; Coppola, G G; Dejesus-Hernandez, M M; Crook, R R; Hunter, T T; Ghidoni, R R; Benussi, L L; Crook, J J; Finger, E E; Hantanpaa, K J KJ; Karydas, A M AM; Sengdy, P P; Gonzalez, J J; Seeley, W W WW; Johnson, N N; Beach, T G TG; Mesulam, M M; Forloni, G G; Kertesz, A A; Knopman, D S DS; Uitti, R R; White, C L CL; Caselli, R R; Lippa, C C; Bigio, E H EH; Wszolek, Z K ZK; Binetti, G G; Mackenzie, I R IR; Miller, B L BL; Boeve, B F BF; Younkin, S G SG; Dickson, D W DW; Petersen, R C RC; Graff-Radford, N R NR; Geschwind, D H DH; Rademakers, R R
Publication Date: 2011-02-01
Variant appearance in text: TMEM106B: 401G>A; S134N