Arndt, A.K., Schafer, S., Drenckhahn, J.D., Sabeh, M.K., Plovie, E.R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A.A., Kalwa, H., Heinig, M., Padera, R.F., Wassilew, K., Bluhm, J., Harnack, C., Martitz, J., Barton, P.J., Greutmann, M., Berger, F., Hubner, N., Siebert, R., Kramer, H.H., Cook, S.A., MacRae, C.A., and Klaassen, S. (2013) Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy. American journal of human genetics. 93(1):67-77
|
Begay, R.L., Tharp, C.A., Martin, A., Graw, S.L., Sinagra, G., Miani, D., Sweet, M.E., Slavov, D.B., Stafford, N., Zeller, M.J., Alnefaie, R., Rowland, T.J., Brun, F., Jones, K.L., Gowan, K., Mestroni, L., Garrity, D.M., Taylor, M.R. (2016) FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.. JACC. Basic to translational science. 1:344-359
|
Cao, S., Smith, L.L., Padilla-Lopez, S.R., Guida, B.S., Blume, E., Shi, J., Morton, S.U., Brownstein, C.A., Beggs, A.H., Kruer, M.C., Agrawal, P.B. (2017) Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Human molecular genetics. 26:3545-3552
|
Chun, Y.W., Miyamoto, M., Williams, C.H., Neitzel, L.R., Silver-Isenstadt, M., Cadar, A.G., Fuller, D.T., Fong, D.C., Liu, H., Lease, R., Kim, S., Katagiri, M., Durbin, M.D., Wang, K.C., Feaster, T.K., Sheng, C.C., Diana Neely, M., Sreenivasan, U., Cortes-Gutierrez, M., Finn, A.V., Schot, R., Mancini, G.M.S., Ament, S.A., Ess, K.C., Bowman, A.B., Han, Z., Bichell, D.P., Ru Su, Y., Hong, C.C. (2023) Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy. Circulation. 147(17):1291-1303
|
Deo, R.C., Musso, G., Tasan, M., Tang, P., Poon, A., Yuan, C., Felix, J.F., Vasan, R.S., Beroukhim, R., De Marco, T., Kwok, P.Y., MacRae, C.A., Roth, F.P. (2014) Prioritizing causal disease genes using unbiased genomic features. Genome biology. 15:534
|
Dhandapany, P.S., Razzaque, M.A., Muthusami, U., Kunnoth, S., Edwards, J.J., Mulero-Navarro, S., Riess, I., Pardo, S., Sheng, J., Rani, D.S., Rani, B., Govindaraj, P., Flex, E., Yokota, T., Furutani, M., Nishizawa, T., Nakanishi, T., Robbins, J., Limongelli, G., Hajjar, R.J., Lebeche, D., Bahl, A., Khullar, M., Rathinavel, A., Sadler, K.C., Tartaglia, M., Matsuoka, R., Thangaraj, K., Gelb, B.D. (2014) RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genetics. 46(6):635-9
|
Ding, Y., Dvornikov, A.V., Ma, X., Zhang, H., Wang, Y., Lowerison, M., Packard, R.R., Wang, L., Chen, J., Zhang, Y., Hsiai, T., Lin, X., Xu, X. (2019) Haploinsufficiency of mechanistic target of rapamycin ameliorates bag3 cardiomyopathy in adult zebrafish. Disease models & mechanisms. 12(10):
|
Enomoto, H., Mittal, N., Inomata, T., Arimura, T., Izumi, T., Kimura, A., Fukuda, K., Makino, S. (2020) Dilated Cardiomyopathy (DCM)-linked Heat shock protein Family D Member 1 (HSPD1) mutations cause upregulation of ROS and autophagy through mitochondrial dysfunction. Cardiovascular research. 117(4):1118-1131
|
|
Hsieh, F.C., Lu, Y.F., Liau, I., Chen, C.C., Cheng, C.M., Hsiao, C.D., Hwang, S.L. (2018) Zebrafish VCAP1X2 regulates cardiac contractility and proliferation of cardiomyocytes and epicardial cells. Scientific Reports. 8:7856
|
Hu, R., Morley, M.P., Brandimarto, J., Tucker, N.R., Parsons, V.A., Zhao, S.D., Meder, B., Katus, H.A., Rühle, F., Stoll, M., Villard, E., Cambien, F., Lin, H., Smith, N.L., Felix, J.F., Vasan, R.S., van der Harst, P., Newton-Cheh, C., Li, J., Kim, C.E., Hakonarson, H., Hannenhalli, S., Ashley, E.A., Moravec, C.S., Tang, W.H.W., Maillet, M., Molkentin, J.D., Ellinor, P.T., Margulies, K.B., Cappola, T.P. (2018) Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects. Circulation. Genomic and precision medicine. 11:e001901
|
Huttner, I.G., Santiago, C.F., Jacoby, A., Cheng, D., Trivedi, G., Cull, S., Cvetkovska, J., Chand, R., Berger, J., Currie, P.D., Smith, K.A., Fatkin, D. (2023) Loss of Sec-1 Family Domain-Containing 1 (scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish. Journal of cardiovascular development and disease. 10(10):
|
Huttner, I.G., Wang, L.W., Santiago, C.F., Horvat, C., Johnson, R., Cheng, D., von Frieling-Salewsky, M., Hillcoat, K., Bemand, T.J., Trivedi, G., Braet, F., Hesselson, D., Alford, K., Hayward, C.S., Seidman, J.G., Seidman, C.E., Feneley, M.P., Linke, W.A., Fatkin, D. (2018) A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance. Circulation. Genomic and precision medicine. 11:e002135
|
Long, P.A., Theis, J.L., Shih, Y.H., Maleszewski, J.J., Abell Aleff, P.C., Evans, J.M., Xu, X., Olson, T.M. (2017) Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy. Human molecular genetics. 26(15):2874-2881
|
Nagata, Y., Yamagishi, M., Konno, T., Nakanishi, C., Asano, Y., Ito, S., Nakajima, Y., Seguchi, O., Fujino, N., Kawashiri, M.A., Takashima, S., Kitakaze, M., Hayashi, K. (2017) Heat Failure Phenotypes Induced by Knockdown of DAPIT in Zebrafish: A New Insight into Mechanism of Dilated Cardiomyopathy. Scientific Reports. 7:17417
|
Pott, A., Shahid, M., Köhler, D., Pylatiuk, C., Weinmann, K., Just, S., Rottbauer, W. (2018) Therapeutic Chemical Screen Identifies Phosphatase Inhibitors to Reconstitute PKB Phosphorylation and Cardiac Contractility in ILK-Deficient Zebrafish. Biomolecules. 8(4)
|
Reinstein, E., Orvin, K., Tayeb-Fligelman, E., Stiebel-Kalish, H., Tzur, S., Pimienta, A.L., Bazak, L., Bengal, T., Cohen, L., Gaton, D.D., Bormans, C., Landau, M., Kornowski, R., Shohat, M., Behar, D.M. (2015) Mutations in TAX1BP3 cause Dilated Cardiomyopathy with Septo-Optic Dysplasia. Human Mutation. 36(4):439-42
|
Varga, M., Ralbovszki, D., Balogh, E., Hamar, R., Keszthelyi, M., Tory, K. (2018) Zebrafish Models of Rare Hereditary Pediatric Diseases. Diseases (Basel, Switzerland). 6(2)
|
Verhagen, J.M.A., van den Born, M., van der Linde, H.C., Nikkels, P.G.J., Verdijk, R.M., Kivlen, M.H., van Unen, L.M.A., Baas, A.F., Ter Heide, H., van Osch-Gevers, L., Hoogeveen-Westerveld, M., Herkert, J.C., Bertoli-Avella, A.M., van Slegtenhorst, M.A., Wessels, M.W., Verheijen, F.W., Hassel, D., Hofstra, R.M.W., Hegde, R.S., van Hasselt, P.M., van Ham, T.J., van de Laar, I.M.B.H. (2019) Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy. Circulation. Genomic and precision medicine. 12(9):397-406
|
|
|
Zhou, C., Li, C., Zhou, B., Sun, H., Koullourou, V., Holt, I., Puckelwartz, M.J., Warren, D.T., Hayward, R., Lin, Z., Zhang, L., Morris, G.E., McNally, E.M., Shackleton, S., Rao, L., Shanahan, C.M., Zhang, Q. (2017) Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis. Human molecular genetics. 26(12):2258-2276
|
Zou, J., Tran, D., Baalbaki, M., Tang, L.F., Poon, A., Pelonero, A., Titus, E.W., Yuan, C., Shi, C., Patchava, S., Halper, E., Garg, J., Movsesyan, I., Yin, C., Wu, R., Wilsbacher, L.D., Liu, J., Hager, R.L., Coughlin, S., Jinek, M., Pullinger, C.R., Kane, J.P., Hart, D.O., Kwok, P.Y., Deo, R.C. (2015) An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin. eLIFE. 4:e09406
|