Edinburgh Research Explorer

Dr Appie Beqqali

Research Fellow

  1. 2018
  2. 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, M. M. G., van Veen, H. A., Picavet, D. I., Beqqali, A., Ehler, E., De Windt, L. J., Pinto, Y. M. & van Oort, R. J., Sep 2018, In : Cardiovascular Research. 114, 11

    Research output: Contribution to journalArticle

  3. Alternative splicing in cardiomyopathy

    Beqqali, A., 26 Jul 2018, In : Biophysical Reviews.

    Research output: Contribution to journalReview article

  4. The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope

    Al-Saaidi, R. A., Rasmussen, T. B., Birkler, R. I. D., Palmfeldt, J., Beqqali, A., Pinto, Y. M., Nissen, P. H., Baandrup, U., Mølgaard, H., Hey, T. M., Eiskjaer, H., Bross, P. & Mogensen, J., 26 Jun 2018, In : European Journal of Heart Failure.

    Research output: Contribution to journalArticle

  5. RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

    Van Den Hoogenhof, M. M. G., Beqqali, A., Amin, A. S., Van Der Made, I., Aufiero, S., Khan, M. A. F., Schumacher, C. A., Jansweijer, J. A., Van Spaendonck-zwarts, K. Y., Remme, C. A., Backs, J., Verkerk, A. O., Baartscheer, A., Pinto, Y. M. & Creemers, E. E., 12 Apr 2018, In : Circulation. p. CIRCULATIONAHA.117.031947

    Research output: Contribution to journalArticle

  6. Cardiac circRNAs Arise Mainly From Constitutive Exons Rather Than Alternatively Spliced Exons

    Aufiero, S., van den Hoogenhof, M. M. G., Reckman, Y. J., Beqqali, A., van der Made, I., Kluin, J., Khan, M. A. F., Pinto, Y. M. & Creemers, E. E., 22 Mar 2018, In : RNA.

    Research output: Contribution to journalArticle

  7. 2017
  8. 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, E. E., Frank, D., Frey, N., Boontje, N., Van Der Velden, J., Steendijk, P., Mummery, C., Passier, R. & Beqqali, A., 5 Dec 2017, In : PLoS ONE. 12, 12, p. e0189139

    Research output: Contribution to journalArticle

  9. The RNA-binding protein Rbm38 is dispensable during pressure overload-induced cardiac remodeling in mice

    van den Hoogenhof, M. M. G., van der Made, I., Beqqali, A., de Groot, N. E., Damanafshan, A., van Oort, R. J., Pinto, Y. M. & Creemers, E. E., 29 Aug 2017, In : PLoS ONE. 12, 8, p. e0184093

    Research output: Contribution to journalArticle

  10. 2016
  11. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

    Devalla, H. D., Gélinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M-A., Tadros, R., Jiang, H., Le Béchec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., Kosmidis, G., Latour, F., Alikashani, A., Hoekstra, M., Schlaepfer, J., Mummery, C. L., Stevenson, B., Kutalik, Z. & 9 others, de Vries, A. A., Rivard, L., Wilde, A. A., Talajic, M., Verkerk, A. O., Al-Gazali, L., Rioux, J. D., Bhuiyan, Z. A. & Passier, R., 1 Dec 2016, In : EMBO molecular medicine. 8, 12, p. 1390-1408 19 p.

    Research output: Contribution to journalArticle

  12. RBM20 Regulates Circular RNA Production From the Titin Gene

    Khan, M. A. F., Reckman, Y. J., Aufiero, S., van den Hoogenhof, M. M. G., van der Made, I., Beqqali, A., Koolbergen, D. R., Rasmussen, T. B., van der Velden, J., Creemers, E. E. & Pinto, Y. M., 14 Oct 2016, In : Circulation Research. 119, 9, p. 996-1003 8 p.

    Research output: Contribution to journalArticle

  13. 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, I. A. E., Rasmussen, T. B., van den Hoogenhof, M. M., van Deutekom, H. W. M., Schafer, S., Haas, J., Meder, B., Sørensen, K. E., van Oort, R. J., Mogensen, J., Hubner, N., Creemers, E. E., van der Velden, J. & Pinto, Y. M., 1 Oct 2016, In : Cardiovascular Research. 112, 1, p. 452-63 12 p.

    Research output: Contribution to journalArticle

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