Complexes formed with integrin-α5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity via Ras and Akt signaling.
Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Annals Of Neurology
Kang, Seok Kyu SK; Vanoye, Carlos G CG; Misra, Sunita N SN; Echevarria, Dennis M DM; Calhoun, Jeffrey D JD; O'Connor, John B JB; Fabre, Katarina L KL; McKnight, Dianalee D; Demmer, Laurie L; Goldenberg, Paula P; Grote, Lauren E LE; Thiffault, Isabelle I; Saunders, Carol C; Strauss, Kevin A KA; Torkamani, Ali A; van der Smagt, Jasper J; van Gassen, Koen K; Carson, Robert P RP; Diaz, Jullianne J; Leon, Eyby E; Jacher, Joseph E JE; Hannibal, Mark C MC; Litwin, Jessica J; Friedman, Neil R NR; Schreiber, Allison A; Lynch, Bryan B; Poduri, Annapurna A; Marsh, Eric D ED; Goldberg, Ethan M EM; Millichap, John J JJ; George, Alfred L AL; Kearney, Jennifer A JA
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Neurology. Genetics
Marini, Carla C; Romoli, Michele M; Parrini, Elena E; Costa, Cinzia C; Mei, Davide D; Mari, Francesco F; Parmeggiani, Lucio L; Procopio, Elena E; Metitieri, Tiziana T; Cellini, Elena E; Virdò, Simona S; De Vita, Dalila D; Gentile, Mattia M; Prontera, Paolo P; Calabresi, Paolo P; Guerrini, Renzo R
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
Molecular Genetics & Genomic Medicine
de Kovel, Carolien G F CG; Brilstra, Eva H EH; van Kempen, Marjan J A MJ; Van't Slot, Ruben R; Nijman, Isaac J IJ; Afawi, Zaid Z; De Jonghe, Peter P; Djémié, Tania T; Guerrini, Renzo R; Hardies, Katia K; Helbig, Ingo I; Hendrickx, Rik R; Kanaan, Moine M; Kramer, Uri U; Lehesjoki, Anna-Elina E AE; Lemke, Johannes R JR; Marini, Carla C; Mei, Davide D; Møller, Rikke S RS; Pendziwiat, Manuela M; Stamberger, Hannah H; Suls, Arvid A; Weckhuysen, Sarah S; , ; Koeleman, Bobby P C BP
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ