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Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.
Begay RL, Graw SL, Sinagra G, Asimaki A, Rowland TJ, Slavov DB, Gowan K, Jones KL, Brun F, Merlo M, Miani D, Sweet M, Devaraj K, Wartchow EP, Gigli M, Puggia I, Salcedo EE, Garrity DM, Ambardekar AV, Buttrick P, Reece TB, Bristow MR, Saffitz JE, Mestroni L, Taylor MRG. Begay RL, et al. Among authors: gowan k. JACC Clin Electrophysiol. 2018 Apr;4(4):504-514. doi: 10.1016/j.jacep.2017.12.003. Epub 2018 Feb 2. JACC Clin Electrophysiol. 2018. PMID: 30067491 Free PMC article.
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MR. Begay RL, et al. Among authors: gowan k. JACC Basic Transl Sci. 2016 Aug;1(5):344-359. doi: 10.1016/j.jacbts.2016.05.004. Epub 2016 Jul 27. JACC Basic Transl Sci. 2016. PMID: 28008423 Free PMC article.
Role of Titin Missense Variants in Dilated Cardiomyopathy.
Begay RL, Graw S, Sinagra G, Merlo M, Slavov D, Gowan K, Jones KL, Barbati G, Spezzacatene A, Brun F, Di Lenarda A, Smith JE, Granzier HL, Mestroni L, Taylor M; Familial Cardiomyopathy Registry. Begay RL, et al. Among authors: gowan k. J Am Heart Assoc. 2015 Nov 13;4(11):e002645. doi: 10.1161/JAHA.115.002645. J Am Heart Assoc. 2015. PMID: 26567375 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: gowan k. G3 (Bethesda). 2018 Jul 31;8(8):2663-2672. doi: 10.1534/g3.118.200290. G3 (Bethesda). 2018. PMID: 29930198 Free PMC article.
p16 Loss and E2F/cell cycle deregulation in infant posterior fossa ependymoma.
Lummus SC, Donson AM, Gowan K, Jones KL, Vibhakar R, Foreman NK, Kleinschmidt-DeMasters BK. Lummus SC, et al. Among authors: gowan k. Pediatr Blood Cancer. 2017 Dec;64(12):10.1002/pbc.26656. doi: 10.1002/pbc.26656. Epub 2017 May 26. Pediatr Blood Cancer. 2017. PMID: 28548702 Free PMC article.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Among authors: gowan k. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
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