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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: rohacs t. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
Sorcin regulates excitation-contraction coupling in the heart.
Meyers MB, Fischer A, Sun YJ, Lopes CM, Rohacs T, Nakamura TY, Zhou YY, Lee PC, Altschuld RA, McCune SA, Coetzee WA, Fishman GI. Meyers MB, et al. Among authors: rohacs t. J Biol Chem. 2003 Aug 1;278(31):28865-71. doi: 10.1074/jbc.M302009200. Epub 2003 May 16. J Biol Chem. 2003. PMID: 12754254 Free article.
93 results