References
Ashkenazy, H., Abadi, S., Martz, E., Chay, O., Mayrose, I., Pupko, T., & Ben-Tal, N. (2016). ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules. Nucleic Acids Res, 44 (W1), W344-350. doi:10.1093/nar/gkw408
Carithers, L. J., & Moore, H. M. (2015). The Genotype-Tissue Expression (GTEx) Project. Biopreserv Biobank, 13 (5), 307-308. doi:10.1089/bio.2015.29031.hmm
Gilbert, M. A., Bauer, R. C., Rajagopalan, R., Grochowski, C. M., Chao, G., McEldrew, D., . . . Spinner, N. B. (2019). Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat, 40 (12), 2197-2220. doi:10.1002/humu.23879
Grochowski, C. M., Loomes, K. M., & Spinner, N. B. (2016). Jagged1 (JAG1): Structure, expression, and disease associations. Gene, 576 (1 Pt 3), 381-384. doi:10.1016/j.gene.2015.10.065
Guegan, K., Stals, K., Day, M., Turnpenny, P., & Ellard, S. (2012). JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.Clin Genet, 82 (1), 33-40. doi:10.1111/j.1399-0004.2011.01749.x
Hu, C., Sun, L., Xiao, L., Han, Y., Fu, X., Xiong, X., . . . Kanwar, Y. S. (2015). Insights into the Mechanisms Involved in the Expression and Regulation of Extracellular Matrix Proteins in Diabetic Nephropathy.Curr Med Chem, 22 (24), 2858-2870. doi:10.2174/0929867322666150625095407
Jones, J. A., Spinale, F. G., & Ikonomidis, J. S. (2009). Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. J Vasc Res, 46 (2), 119-137. doi:10.1159/000151766
Kamath, B. M., Spinner, N. B., Emerick, K. M., Chudley, A. E., Booth, C., Piccoli, D. A., & Krantz, I. D. (2004). Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.Circulation, 109 (11), 1354-1358. doi:10.1161/01.CIR.0000121361.01862.A4
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alfoldi, J., Wang, Q., . . . MacArthur, D. G. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 581 (7809), 434-443. doi:10.1038/s41586-020-2308-7
Kostina, A. S., Uspensky Vcapital Ie, C., Irtyuga, O. B., Ignatieva, E. V., Freylikhman, O., Gavriliuk, N. D., . . . Malashicheva, A. B. (2016). Notch-dependent EMT is attenuated in patients with aortic aneurysm and bicuspid aortic valve. Biochim Biophys Acta, 1862 (4), 733-740. doi:10.1016/j.bbadis.2016.02.006
Molinero-Herguedas, E., Labrador-Fuster, T., Rios-Lazaro, M., & Carmaniu-Tobal, J. (2008). [Aortic aneurysm in Alagille syndrome].Rev Esp Cardiol, 61 (6), 658-659. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/18570795
Renard, M., Francis, C., Ghosh, R., Scott, A. F., Witmer, P. D., Ades, L. C., . . . De Backer, J. (2018). Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol, 72 (6), 605-615. doi:10.1016/j.jacc.2018.04.089
Saleh, M., Kamath, B. M., & Chitayat, D. (2016). Alagille syndrome: clinical perspectives. Appl Clin Genet, 9 , 75-82. doi:10.2147/TACG.S86420
Sharma, N., Dev, R., Ruiz-Rosado, J. D., Partida-Sanchez, S., Guerau-de-Arellano, M., Dhakal, P., . . . Hans, C. P. (2019). Pharmacological inhibition of Notch signaling regresses pre-established abdominal aortic aneurysm. Sci Rep, 9 (1), 13458. doi:10.1038/s41598-019-49682-0
Spinner, N. B., Gilbert, M. A., Loomes, K. M., & Krantz, I. D. (1993). Alagille Syndrome. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa, & A. Amemiya (Eds.),GeneReviews((R)) . Seattle (WA).
Vandeweyer, G., Van Laer, L., Loeys, B., Van den Bulcke, T., & Kooy, R. F. (2014). VariantDB: a flexible annotation and filtering portal for next generation sequencing data. Genome Med, 6 (10), 74. doi:10.1186/s13073-014-0074-6
Zavadil, J., Cermak, L., Soto-Nieves, N., & Bottinger, E. P. (2004). Integration of TGF-beta/Smad and Jagged1/Notch signalling in epithelial-to-mesenchymal transition. EMBO J, 23 (5), 1155-1165. doi:10.1038/sj.emboj.7600069