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Page 1
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
de Villiers CP, van der Merwe L, Crotti L, Goosen A, George AL Jr, Schwartz PJ, Brink PA, Moolman-Smook JC, Corfield VA. de Villiers CP, et al. Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2. Circ Cardiovasc Genet. 2014. PMID: 25087618 Free PMC article.
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K. Hastings R, et al. Among authors: de villiers cp. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. doi: 10.1161/CIRCGENETICS.116.001431. Epub 2016 Sep 13. Circ Cardiovasc Genet. 2016. PMID: 27625337 Free PMC article.
HspB1 phosphorylation regulates its intramolecular dynamics and mechanosensitive molecular chaperone interaction with filamin C.
Collier MP, Alderson TR, de Villiers CP, Nicholls D, Gastall HY, Allison TM, Degiacomi MT, Jiang H, Mlynek G, Fürst DO, van der Ven PFM, Djinovic-Carugo K, Baldwin AJ, Watkins H, Gehmlich K, Benesch JLP. Collier MP, et al. Among authors: de villiers cp. Sci Adv. 2019 May 22;5(5):eaav8421. doi: 10.1126/sciadv.aav8421. eCollection 2019 May. Sci Adv. 2019. PMID: 31131323 Free PMC article.
A Novel Familial Cardiac Arrhythmia Syndrome with Widespread ST-Segment Depression.
Bundgaard H, Jøns C, Lodder EM, Izarzugaza JMG, Romero Herrera JA, Pehrson S, Tfelt-Hansen J, Ahlberg G, Olesen MS, Holst AG, Wellens H, de Villiers C, Hastings R, Stuart G, Brunak S, Wilde AAM, Watkins H, Christensen AH. Bundgaard H, et al. N Engl J Med. 2018 Nov 1;379(18):1780-1781. doi: 10.1056/NEJMc1807668. N Engl J Med. 2018. PMID: 30380381 No abstract available.