Baird, D.A., Mubeen, H., Doganli, C., Miltenburg, J.B., Thomsen, O.K., Ali, Z., Naveed, T., Rehman, A.U., Baig, S.M., Christensen, S.T., Farooq, M., Larsen, L.A. (2024) Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients. Human genetics. 143(11):1323-1339
|
Camarata, T., Krcmery, J., Snyder, D., Park, S., Topczewski, J., and Simon, H.G. (2010) Pdlim7 (LMP4) regulation of Tbx5 specifies zebrafish heart atrio-ventricular boundary and valve formation. Developmental Biology. 337(2):233-245
|
Chen, J., Zhang, M., Zou, H., Aniagu, S., Jiang, Y., Chen, T. (2022) Synergistic protective effects of folic acid and resveratrol against fine particulate matter-induced heart malformations in zebrafish embryos. Ecotoxicology and environmental safety. 241:113825
|
Chen, W., Zhang, Y., Shen, L., Zhu, J., Cai, K., Lu, Z., Zeng, W., Zhao, J., Zhou, X. (2022) Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease. Human genetics. 141(8):1339-1353
|
Cheng, Z., Zhang, Q., Yin, A., Feng, M., Li, H., Liu, H., Li, Y., Qian, L. (2018) The long non-coding RNA uc.4 influences cell differentiation through the TGF-beta signaling pathway. Experimental & molecular medicine. 50:e447
|
Colombo, S., de Sena-Tomás, C., George, V., Werdich, A.A., Kapur, S., MacRae, C.A., Targoff, K.L. (2017) nkx genes establish SHF cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression. Development (Cambridge, England). 145(3)
|
Demal, T.J., Heise, M., Reiz, B., Dogra, D., Brænne, I., Reichenspurner, H., Männer, J., Aherrahrou, Z., Schunkert, H., Erdmann, J., Abdelilah-Seyfried, S. (2019) A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A. Scientific Reports. 9:2959
|
Derrick, C.J., Szenker-Ravi, E., Santos-Ledo, A., Alqahtani, A., Yusof, A., Eley, L., Coleman, A.H.L., Tohari, S., Ng, A.Y., Venkatesh, B., Alharby, E., Mansard, L., Bonnet-Dupeyron, M.N., Roux, A.F., Vaché, C., Roume, J., Bouvagnet, P., Almontashiri, N.A.M., Henderson, D.J., Reversade, B., Chaudhry, B. (2023) Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish. Human molecular genetics. 33(2):150-169
|
Duffy, E.A., Pretorius, P.R., Lerach, S., Lohr, J.L., Hirsch, B., Souza, C.M., Veillette, A., Schimmenti, L.A. (2015) Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A. American journal of medical genetics. Part A. 167(11):2674-83
|
Edwards, J.J., Rouillard, A.D., Fernandez, N.F., Wang, Z., Lachmann, A., Shankaran, S.S., Bisgrove, B.W., Demarest, B., Turan, N., Srivastava, D., Bernstein, D., Deanfield, J., Giardini, A., Porter, G., Kim, R., Roberts, A.E., Newburger, J.W., Goldmuntz, E., Brueckner, M., Lifton, R.P., Seidman, C.E., Chung, W.K., Tristani-Firouzi, M., Yost, H.J., Ma'ayan, A., Gelb, B.D. (2020) Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC. Basic to translational science. 5:376-386
|
|
|
Gao, X., Zheng, P., Yang, L., Luo, H., Zhang, C., Qiu, Y., Huang, G., Sheng, W., Ma, X., Lu, C. (2019) Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5. Clinical science (London, England : 1979). 133:1281-1295
|
Gong, K., Xie, T., Yang, Y., Luo, Y., Deng, Y., Chen, K., Tan, Z., Guo, H., Xie, L. (2021) Establishment of a Dihydrofolate Reductase Gene Knock-In Zebrafish Strain to Aid Preliminary Analysis of Congenital Heart Disease Mechanisms. Frontiers in cardiovascular medicine. 8:763851
|
Hao, L., Ma, J., Wu, F., Ma, X., Qian, M., Sheng, W., Yan, T., Tang, N., Jiang, X., Zhang, B., Xiao, D., Qian, Y., Zhang, J., Jiang, N., Zhou, W., Chen, W., Ma, D., Huang, G. (2022) WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clinical and translational medicine. 12:e941
|
Hartill, V.L., van de Hoek, G., Patel, M.P., Little, R., Watson, C.M., Berry, I.R., Shoemark, A., Abdelmottaleb, D., Parkes, E., Bacchelli, C., Szymanska, K., Knoers, N.V., Scambler, P.J., Ueffing, M., Boldt, K., Yates, R., Winyard, P.J., Adler, B., Moya, E., Hattingh, L., Shenoy, A., Hogg, C., Sheridan, E., Roepman, R., Norris, D., Mitchison, H.M., Giles, R.H., Johnson, C.A. (2017) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human molecular genetics. 27(3):529-545
|
Heigwer, J., Kutzner, J., Haeussler, M., Burkhalter, M.D., Draebing, T., Juergensen, L., Katus, H.A., Philipp, M., Westhoff, J.H., Hassel, D. (2020) miR-103/107 regulates left-right asymmetry in zebrafish by modulating Kupffer's vesicle development and ciliogenesis. Biochemical and Biophysical Research Communications. 527(2):432-439
|
Hempel, M., Casar Tena, T., Diehl, T., Burczyk, M.S., Strom, T.M., Kubisch, C., Philipp, M., Lessel, D. (2017) Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Human genetics. 136(3):339-346
|
Izarzugaza, J.M.G., Ellesøe, S.G., Doganli, C., Ehlers, N.S., Dalgaard, M.D., Audain, E., Dombrowsky, G., Banasik, K., Sifrim, A., Wilsdon, A., Thienpont, B., Breckpot, J., Gewillig, M., Competence Network for Congenital Heart Defects, Germany, Brook, J.D., Hitz, M.P., Larsen, L.A., Brunak, S. (2020) Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease. Genome Medicine. 12:76
|
Joziasse, I.C., Smith, K.A., Chocron, S., van Dinther, M., Guryev, V., van de Smagt, J.J., Cuppen, E., Ten Dijke, P., Mulder, B.J., Maslen, C.L., Reshey, B., Doevendans, P.A., and Bakkers, J. (2011) ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. European journal of human genetics : EJHG. 19(4):389-93
|
Li, B., Yu, L., Liu, D., Yang, X., Zheng, Y., Gui, Y., Wang, H. (2018) MIB1 mutations reduce Notch signaling activation and contribute to congenital heart disease. Clinical science (London, England : 1979). 132:2483-2491
|
Li, H., Edie, S., Klinedinst, D., Jeong, J.S., Blackshaw, S., Maslen, C.L., Reeves, R.H. (2016) Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier. Genetics. 203:763-70
|
Li, Y., Yagi, H., Onuoha, E.O., Damerla, R.R., Francis, R., Furutani, Y., Tariq, M., King, S.M., Hendricks, G., Cui, C., Saydmohammed, M., Lee, D.M., Zahid, M., Sami, I., Leatherbury, L., Pazour, G.J., Ware, S.M., Nakanishi, T., Goldmuntz, E., Tsang, M., Lo, C.W. (2016) DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. PLoS Genetics. 12:e1005821
|
Liu, S., Wei, W., Wang, P., Liu, C., Jiang, X., Li, T., Li, F., Wu, Y., Chen, S., Sun, K., Xu, R. (2022) LOF variants identifying candidate genes of laterality defects patients with congenital heart disease. PLoS Genetics. 18:e1010530e1010530
|
Lu, P.N., Moreland, T., Christian, C.J., Lund, T.C., Steet, R.A., Flanagan-Steet, H. (2020) Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation. JCI insight. 5(20):
|
Ma, J., Gu, Y., Liu, J., Song, J., Zhou, T., Jiang, M., Wen, Y., Guo, X., Zhou, Z., Sha, J., He, J., Hu, Z., Luo, L., Liu, M. (2022) Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish. Cellular and molecular life sciences : CMLS. 80:1919
|
Mishra-Gorur, K., Barak, T., Kaulen, L.D., Henegariu, O., Jin, S.C., Aguilera, S.M., Yalbir, E., Goles, G., Nishimura, S., Miyagishima, D., Djenoune, L., Altinok, S., Rai, D.K., Viviano, S., Prendergast, A., Zerillo, C., Ozcan, K., Baran, B., Sencar, L., Goc, N., Yarman, Y., Ercan-Sencicek, A.G., Bilguvar, K., Lifton, R.P., Moliterno, J., Louvi, A., Yuan, S., Deniz, E., Brueckner, M., Gunel, M. (2023) Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings of the National Academy of Sciences of the United States of America. 120:e2214997120e2214997120
|
Mortensen, S.A., Skov, L.L., Kjaer-Sorensen, K., Hansen, A.G., Hansen, S., Dagnæs-Hansen, F., Jensenius, J.C., Oxvig, C., Thiel, S., Degn, S.E. (2017) Endogenous Natural Complement Inhibitor Regulates Cardiac Development. Journal of immunology (Baltimore, Md. : 1950). 198(8):3118-3126
|
Qian, Y., Xiao, D., Guo, X., Chen, H., Hao, L., Ma, X., Huang, G., Ma, D., Wang, H. (2017) Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation. Journal of translational medicine. 15:69
|
Qiao, X., Liu, Y., Li, P., Chen, Z., Li, H., Yang, X., Finnell, R.H., Yang, Z., Zhang, T., Qiao, B., Zheng, Y., Wang, H. (2016) Genetic analysis of rare coding mutations in CELSR1-3 in Chinese Congenital Heart and Neural Tube Defects. Clinical science (London, England : 1979). 130(24):2329-2340
|
Ren, F., Huang, Y., Tao, Y., Ji, C., Aniagu, S., Jiang, Y., Chen, T. (2020) Resveratrol protects against PM2.5-induced heart defects in zebrafish embryos as an antioxidant rather than as an AHR antagonist. Toxicology and applied pharmacology. 398:115029
|
Santos, J.M.A., Mendes-Silva, L., Afonso, V., Martins, G., Machado, R.S.R., Lopes, J.A., Cancela, L., Futschik, M.E., Sachinidis, A., Gavaia, P., Bragança, J. (2019) Exogenous WNT5A and WNT11 proteins rescue CITED2 dysfunction in mouse embryonic stem cells and zebrafish morphants. Cell Death & Disease. 10:582
|
Schuster, K., Leeke, B., Meier, M., Wang, Y., Newman, T., Burgess, S., Horsfield, J.A. (2015) A neural crest origin for cohesinopathy heart defects. Human molecular genetics. 24(24):7005-16
|
Sebastian, W.A., Inoue, M., Shimizu, N., Sato, R., Oguri, S., Itonaga, T., Kishimoto, S., Shiraishi, H., Hanada, T., Ihara, K. (2024) Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. Journal of Human Genetics. 69(3-4):133-138
|
|
|
Smith, K.A., Joziasse, I.C., Chocron, S., van Dinther, M., Guryev, V., Verhoeven, M.C., Rehmann, H., van der Smagt, J.J., Doevendans, P.A., Cuppen, E., Mulder, B.J., Ten Dijke, P., and Bakkers, J. (2009) Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects. Circulation. 119(24):3062-3069
|
Thienpont, B., Zhang, L., Postma, A.V., Breckpot, J., Tranchevent, L.C., Van Loo, P., Møllgård, K., Tommerup, N., Bache, I., Tümer, Z., van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K., and Larsen, L.A. (2010) Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans. American journal of human genetics. 86(6):839-849
|
Wang, F., Liu, D., Zhang, R.R., Yu, L.W., Zhao, J.Y., Yang, X.Y., Jiang, S.S., Ma, D., Qiao, B., Zhang, F., Jin, L., Gui, Y.H., Wang, H.Y. (2017) A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population. Cell discovery. 3:17026
|
Wang, X., Zhou, L., Jin, J., Yang, Y., Song, G., Shen, Y., Liu, H., Liu, M., Shi, C., and Qian, L. (2013) Knockdown of FABP3 Impairs Cardiac Development in Zebrafish through the Retinoic Acid Signaling Pathway. International Journal of Molecular Sciences. 14(7):13826-13841
|
Wu, F., Yang, Q., Mi, Y., Wang, F., Cai, K., Zhang, Y., Wang, Y., Wang, X., Gui, Y., Li, Q. (2022) miR-29b-3p Inhibitor Alleviates Hypomethylation-Related Aberrations Through a Feedback Loop Between miR-29b-3p and DNA Methylation in Cardiomyocytes. Frontiers in cell and developmental biology. 10:788799
|
Xiao, D., Wang, H., Hao, L., Guo, X., Ma, X., Qian, Y., Chen, H., Ma, J., Zhang, J., Sheng, W., Shou, W., Huang, G., Ma, D. (2018) The roles of SMYD4 in epigenetic regulation of cardiac development in zebrafish. PLoS Genetics. 14:e1007578
|
Yang, R.M., Tao, J., Zhan, M., Yuan, H., Wang, H.H., Chen, S.J., Zhu, C., de Thé, H., Zhou, J., Guo, Y., Zhu, J. (2019) TAMM41 is required for heart valve differentiation via regulation of PINK-PARK2 dependent mitophagy. Cell death and differentiation. 26(11):2430-2446
|
|
|
Zhu, M.J., Ma, X.Y., Ding, P.C., Tang, H.F., Peng, R., Lu, L., Li, P.Q., Qiao, B., Yang, X.Y., Zheng, Y.F., Wang, H.Y., Gao, Y.Q., Chen, F.S. (2019) Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort. Journal of Human Genetics. 64(5):427-435
|
