Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Molecular Neurobiology
Maksemous, Neven N; Harder, Aster V E AVE; Ibrahim, Omar O; Vijfhuizen, Lisanne S LS; Sutherland, Heidi H; Pelzer, Nadine N; de Boer, Irene I; Terwindt, Gisela M GM; Lea, Rodney A RA; van den Maagdenberg, Arn M J M AMJM; Griffiths, Lyn R LR
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: CACNA1A: E731A; rs16019
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nature Genetics
Syrbe, Steffen S; Hedrich, Ulrike B S UBS; Riesch, Erik E; Djémié, Tania T; Müller, Stephan S; Møller, Rikke S RS; Maher, Bridget B; Hernandez-Hernandez, Laura L; Synofzik, Matthis M; Caglayan, Hande S HS; Arslan, Mutluay M; Serratosa, José M JM; Nothnagel, Michael M; May, Patrick P; Krause, Roland R; Löffler, Heidrun H; Detert, Katja K; Dorn, Thomas T; Vogt, Heinrich H; Krämer, Günter G; Schöls, Ludger L; Mullis, Primus E PE; Linnankivi, Tarja T; Lehesjoki, Anna-Elina AE; Sterbova, Katalin K; Craiu, Dana C DC; Hoffman-Zacharska, Dorota D; Korff, Christian M CM; Weber, Yvonne G YG; Steinlin, Maja M; Gallati, Sabina S; Bertsche, Astrid A; Bernhard, Matthias K MK; Merkenschlager, Andreas A; Kiess, Wieland W; , ; Gonzalez, Michael M; Züchner, Stephan S; Palotie, Aarno A; Suls, Arvid A; De Jonghe, Peter P; Helbig, Ingo I; Biskup, Saskia S; Wolff, Markus M; Maljevic, Snezana S; Schüle, Rebecca R; Sisodiya, Sanjay M SM; Weckhuysen, Sarah S; Lerche, Holger H; Lemke, Johannes R JR
Publication Date: 2015-04
Variant appearance in text: CACNA1A: E731A; rs16019
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
Publication Date: 2014
Variant appearance in text: CACNA1A: E731A; rs16019