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A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. Hennessey JA, et al. Among authors: sutphin bs. PLoS One. 2014 Sep 3;9(9):e106982. doi: 10.1371/journal.pone.0106982. eCollection 2014. PLoS One. 2014. PMID: 25184293 Free PMC article.
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.
Baschal EE, Terhune EA, Wethey CI, Baschal RM, Robinson KD, Cuevas MT, Pradhan S, Sutphin BS, Taylor MRG, Gowan K, Pearson CG, Niswander LA, Jones KL, Miller NH. Baschal EE, et al. Among authors: sutphin bs. G3 (Bethesda). 2018 Jul 31;8(8):2663-2672. doi: 10.1534/g3.118.200290. G3 (Bethesda). 2018. PMID: 29930198 Free PMC article.
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Terhune EA, Cuevas MT, Monley AM, Wethey CI, Chen X, Cattell MV, Bayrak MN, Bland MR, Sutphin B, Trahan GD, Taylor MRG, Niswander LA, Jones KL, Baschal EE, Antunes L, Dobbs M, Gurnett C, Appel B, Gray R, Hadley Miller N. Terhune EA, et al. Hum Mutat. 2021 Apr;42(4):392-407. doi: 10.1002/humu.24162. Epub 2021 Feb 7. Hum Mutat. 2021. PMID: 33382518 Free PMC article.