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RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
van den Hoogenhof MMG, Beqqali A, Amin AS, van der Made I, Aufiero S, Khan MAF, Schumacher CA, Jansweijer JA, van Spaendonck-Zwarts KY, Remme CA, Backs J, Verkerk AO, Baartscheer A, Pinto YM, Creemers EE. van den Hoogenhof MMG, et al. Among authors: beqqali a. Circulation. 2018 Sep 25;138(13):1330-1342. doi: 10.1161/CIRCULATIONAHA.117.031947. Circulation. 2018. PMID: 29650543
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, Haas J, Meder B, Sørensen KE, van Oort RJ, Mogensen J, Hubner N, Creemers EE, van der Velden J, Pinto YM. Beqqali A, et al. Cardiovasc Res. 2016 Oct;112(1):452-63. doi: 10.1093/cvr/cvw192. Epub 2016 Aug 5. Cardiovasc Res. 2016. PMID: 27496873
RBM20 Regulates Circular RNA Production From the Titin Gene.
Khan MA, Reckman YJ, Aufiero S, van den Hoogenhof MM, van der Made I, Beqqali A, Koolbergen DR, Rasmussen TB, van der Velden J, Creemers EE, Pinto YM. Khan MA, et al. Among authors: beqqali a. Circ Res. 2016 Oct 14;119(9):996-1003. doi: 10.1161/CIRCRESAHA.116.309568. Epub 2016 Aug 16. Circ Res. 2016. PMID: 27531932
The MEF2 transcriptional target DMPK induces loss of sarcomere structure and cardiomyopathy.
Damanafshan A, Elzenaar I, Samson-Couterie B, van der Made I, Bourajjaj M, van den Hoogenhof MM, van Veen HA, Picavet DI, Beqqali A, Ehler E, De Windt LJ, Pinto YM, van Oort RJ. Damanafshan A, et al. Among authors: beqqali a. Cardiovasc Res. 2018 Sep 1;114(11):1474-1486. doi: 10.1093/cvr/cvy091. Cardiovasc Res. 2018. PMID: 29648621
Insights into alternative splicing of sarcomeric genes in the heart.
Weeland CJ, van den Hoogenhof MM, Beqqali A, Creemers EE. Weeland CJ, et al. Among authors: beqqali a. J Mol Cell Cardiol. 2015 Apr;81:107-13. doi: 10.1016/j.yjmcc.2015.02.008. Epub 2015 Feb 12. J Mol Cell Cardiol. 2015. PMID: 25683494 Review.
Editorial: RNA Biology in Cardiovascular Disease.
van den Hoogenhof MMG, El Azzouzi H, Beqqali A. van den Hoogenhof MMG, et al. Among authors: beqqali a. Front Genet. 2021 Oct 12;12:775091. doi: 10.3389/fgene.2021.775091. eCollection 2021. Front Genet. 2021. PMID: 34712276 Free PMC article. No abstract available.
Z-disc protein CHAPb induces cardiomyopathy and contractile dysfunction in the postnatal heart.
van Eldik W, den Adel B, Monshouwer-Kloots J, Salvatori D, Maas S, van der Made I, Creemers EE, Frank D, Frey N, Boontje N, van der Velden J, Steendijk P, Mummery C, Passier R, Beqqali A. van Eldik W, et al. Among authors: beqqali a. PLoS One. 2017 Dec 5;12(12):e0189139. doi: 10.1371/journal.pone.0189139. eCollection 2017. PLoS One. 2017. PMID: 29206857 Free PMC article.
42 results