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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: pitt gs. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Genetics of cardiac repolarization.
Shah SH, Pitt GS. Shah SH, et al. Among authors: pitt gs. Nat Genet. 2009 Apr;41(4):388-9. doi: 10.1038/ng0409-388. Nat Genet. 2009. PMID: 19338079
Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development.
Ramachandran KV, Hennessey JA, Barnett AS, Yin X, Stadt HA, Foster E, Shah RA, Yazawa M, Dolmetsch RE, Kirby ML, Pitt GS. Ramachandran KV, et al. Among authors: pitt gs. J Clin Invest. 2013 Apr;123(4):1638-46. doi: 10.1172/JCI66903. Epub 2013 Mar 15. J Clin Invest. 2013. PMID: 23549079 Free PMC article.
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: pitt gs. PLoS One. 2014 Sep 3;9(9):e106982. doi: 10.1371/journal.pone.0106982. eCollection 2014. PLoS One. 2014. PMID: 25184293 Free PMC article.
120 results