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
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: CACNA1A: E1014K; rs16024
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: E1014K; rs16024
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
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: CACNA1A: E1014K; rs16024
The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
The Journal Of Biological Chemistry
Condliffe, Steven B SB; Fratangeli, Alessandra A; Munasinghe, Nehan R NR; Saba, Elena E; Passafaro, Maria M; Montrasio, Cristina C; Ferrari, Maurizio M; Rosa, Patrizia P; Carrera, Paola P
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
The Journal Of Physiology
Rajakulendran, Sanjeev S; Graves, Tracey D TD; Labrum, Robyn W RW; Kotzadimitriou, Dimitrios D; Eunson, Louise L; Davis, Mary B MB; Davies, Rosalyn R; Wood, Nicholas W NW; Kullmann, Dimitri M DM; Hanna, Michael G MG; Schorge, Stephanie S