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2. Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein. Cheng EP; Yuan C; Navedo MF; Dixon RE; Nieves-Cintrón M; Scott JD; Santana LF Circ Res; 2011 Jul; 109(3):255-61. PubMed ID: 21700933 [TBL] [Abstract][Full Text] [Related]
3. Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. Depil K; Beyl S; Stary-Weinzinger A; Hohaus A; Timin E; Hering S J Biol Chem; 2011 Sep; 286(36):31557-64. PubMed ID: 21685391 [TBL] [Abstract][Full Text] [Related]
4. Elevated basal transcription can underlie timothy channel association with autism related disorders. Servili E; Trus M; Sajman J; Sherman E; Atlas D Prog Neurobiol; 2020 Aug; 191():101820. PubMed ID: 32437834 [TBL] [Abstract][Full Text] [Related]
8. Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. Wemhöner K; Friedrich C; Stallmeyer B; Coffey AJ; Grace A; Zumhagen S; Seebohm G; Ortiz-Bonnin B; Rinné S; Sachse FB; Schulze-Bahr E; Decher N J Mol Cell Cardiol; 2015 Mar; 80():186-95. PubMed ID: 25633834 [TBL] [Abstract][Full Text] [Related]
9. Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. Dick IE; Joshi-Mukherjee R; Yang W; Yue DT Nat Commun; 2016 Jan; 7():10370. PubMed ID: 26822303 [TBL] [Abstract][Full Text] [Related]
10. Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside. Han D; Xue X; Yan Y; Li G Exp Biol Med (Maywood); 2019 Sep; 244(12):960-971. PubMed ID: 31324123 [TBL] [Abstract][Full Text] [Related]
11. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. Landstrom AP; Boczek NJ; Ye D; Miyake CY; De la Uz CM; Allen HD; Ackerman MJ; Kim JJ Int J Cardiol; 2016 Oct; 220():290-8. PubMed ID: 27390944 [TBL] [Abstract][Full Text] [Related]
12. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Yazawa M; Hsueh B; Jia X; Pasca AM; Bernstein JA; Hallmayer J; Dolmetsch RE Nature; 2011 Mar; 471(7337):230-4. PubMed ID: 21307850 [TBL] [Abstract][Full Text] [Related]
16. Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel. Cens T; Leyris JP; Charnet P Pflugers Arch; 2008 Nov; 457(2):417-30. PubMed ID: 18536931 [TBL] [Abstract][Full Text] [Related]
17. Two mechanistically distinct effects of dihydropyridine nifedipine on CaV1.2 L-type Ca²⁺ channels revealed by Timothy syndrome mutation. Sheng X; Nakada T; Kobayashi M; Kashihara T; Shibazaki T; Horiuchi-Hirose M; Gomi S; Hirose M; Aoyama T; Yamada M Eur J Pharmacol; 2012 Jun; 685(1-3):15-23. PubMed ID: 22554770 [TBL] [Abstract][Full Text] [Related]
18. Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities. Ehlinger DG; Commons KG Eur J Neurosci; 2017 Oct; 46(8):2416-2425. PubMed ID: 28921675 [TBL] [Abstract][Full Text] [Related]