Baker, P.A., Ibarra-García-Padilla, R., Venkatesh, A., Singleton, E.W., Uribe, R.A. (2022) In Toto imaging of early enteric nervous system Development reveals that gut colonization is tied to proliferation downstream of ret. Development (Cambridge, England). 149(21)
|
Cheng, W.W., Tang, C.S., Gui, H.S., So, M.T., Lui, V.C., Tam, P.K., Garcia-Barcelo, M.M. (2015) Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype. World journal of gastroenterology. 21(7):2040-6
|
Chi, S., Li, S., Cao, G., Guo, J., Han, Y., Zhou, Y., Zhang, X., Li, Y., Luo, Z., Li, X., Rong, L., Zhang, M., Li, L., Tang, S. (2023) The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease. Frontiers in cell and developmental biology. 11:11847991184799
|
Gui, H., Schriemer, D., Cheng, W.W., Chauhan, R.K., Antiňolo, G., Berrios, C., Bleda, M., Brooks, A.S., Brouwer, R.W., Burns, A.J., Cherny, S.S., Dopazo, J., Eggen, B.J., Griseri, P., Jalloh, B., Le, T.L., Lui, V.C., Luzón-Toro, B., Matera, I., Ngan, E.S., Pelet, A., Ruiz-Ferrer, M., Sham, P.C., Shepherd, I.T., So, M.T., Sribudiani, Y., Tang, C.S., van den Hout, M.C., van der Linde, H.C., van Ham, T.J., van IJcken, W.F., Verheij, J.B., Amiel, J., Borrego, S., Ceccherini, I., Chakravarti, A., Lyonnet, S., Tam, P.K., Garcia-Barceló, M.M., Hofstra, R.M. (2017) Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 18:48
|
Heanue, T.A., Boesmans, W., Bell, D.M., Kawakami, K., Vanden Berghe, P., Pachnis, V. (2016) A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity. PLoS Genetics. 12:e1006439
|
Huang, S., Wang, Y., Luo, L., Li, X., Jin, X., Li, S., Yu, X., Yang, M., Guo, Z. (2019) BMP2 Is Related to Hirschsprung's Disease and Required for Enteric Nervous System Development. Frontiers in Cellular Neuroscience. 13:523
|
Jiang, Q., Arnold, S., Heanue, T., Kilambi, K.P., Doan, B., Kapoor, A., Ling, A.Y., Sosa, M.X., Guy, M., Jiang, Q., Burzynski, G., West, K., Bessling, S., Griseri, P., Amiel, J., Fernandez, R.M., Verheij, J.B., Hofstra, R.M., Borrego, S., Lyonnet, S., Ceccherini, I., Gray, J.J., Pachnis, V., McCallion, A.S., Chakravarti, A. (2015) Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability. American journal of human genetics. 96:581-596
|
Kakiailatu, N.J.M., Zhang, W., Kuil, L.E., Bindels, E., Zink, J.T.M., Vermeulen, M., de Pater, E., Melotte, V., Alves, M.M. (2025) Retinoic Acid Inhibition Alters Intestinal Composition in Zebrafish: A Non-genetic Model to Study Hirschsprung Disease?. Neurogastroenterology and motility. :e70155e70155
|
Kuil, L.E., Chauhan, R.K., de Graaf, B.M., Cheng, W.W., Kakiailatu, N.J.M., Lasabuda, R., Verhaeghe, C., Windster, J.D., Schriemer, D., Azmani, Z., Brooks, A.S., Edie, S., Reeves, R.H., Eggen, B.J.L., Shepherd, I.T., Burns, A.J., Hofstra, R.M.W., Melotte, V., Brosens, E., Alves, M.M. (2023) ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome. Biochimica et biophysica acta. Molecular basis of disease. 1870(3):166991
|
Kuil, L.E., MacKenzie, K.C., Tang, C.S., Windster, J.D., Le, T.L., Karim, A., de Graaf, B.M., van der Helm, R., van Bever, Y., Sloots, C.E.J., Meeussen, C., Tibboel, D., de Klein, A., Wijnen, R.M.H., Amiel, J., Lyonnet, S., Garcia-Barcelo, M.M., Tam, P.K.H., Alves, M.M., Brooks, A.S., Hofstra, R.M.W., Brosens, E. (2021) Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PLoS Genetics. 17:e1009698
|
Liu, M.K., Chen, Y.J., Chen, F., Lin, Z.X., Zhu, Z.C., Lin, Y., Fang, Y.F., Wu, D.M. (2023) Intervention effects and related mechanisms of glycyrrhizic acid on zebrafish with Hirschsprung-associated enterocolitis. World journal of gastrointestinal surgery. 15:131713301317-1330
|
Lu, Y.J., Yu, W.W., Cui, M.M., Yu, X.X., Song, H.L., Bai, M.R., Wu, W.J., Gu, B.L., Wang, J., Cai, W., Chu, X. (2021) Association Analysis of Variants of DSCAM and BACE2 With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish. Frontiers in cell and developmental biology. 9:641152
|
Merrick Schill, E., Lake, J.I., Tusheva, O.A., Nagy, N., Bery, S.K., Foster, L., Avetisyan, M., Johnson, S.L., Stenson, W.F., Goldstein, A.M., Heuckeroth, R.O. (2016) Ibuprofen slows migration and inhibits bowel colonization by enteric nervous system precursors in zebrafish, chick and mouse. Developmental Biology. 409(2):473-88
|
Pu, J., Tang, S., Tong, Q., Wang, G., Jia, H., Jia, Q., Li, K., Li, D., Yang, D., Yang, J., Li, H., Li, S., Mei, H. (2017) Neuregulin 1 is involved in enteric nervous system development in zebrafish. Journal of Pediatric Surgery. 52(7):1182-1187
|
Rolig, A.S., Mittge, E.K., Ganz, J., Troll, J.V., Melancon, E., Wiles, T.J., Alligood, K., Stephens, W.Z., Eisen, J.S., Guillemin, K. (2017) The enteric nervous system promotes intestinal health by constraining microbiota composition. PLoS Biology. 15:e2000689
|
Sribudiani, Y., Chauhan, R.K., Alves, M.M., Petrova, L., Brosens, E., Harrison, C., Wabbersen, T., de Graaf, B.M., Rügenbrink, T., Burzynski, G., Brouwer, R.W.W., IJcken, W.F.J.V., Maas, S.M., de Klein, A., Osinga, J., Eggen, B.J.L., Burns, A.J., Brooks, A.S., Shepherd, I.T., Hofstra, R.M.W. (2018) Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease. Gastroenterology. 155(1):118-129.e6
|
Tilghman, J.M., Ling, A.Y., Turner, T.N., Sosa, M.X., Krumm, N., Chatterjee, S., Kapoor, A., Coe, B.P., Nguyen, K.H., Gupta, N., Gabriel, S., Eichler, E.E., Berrios, C., Chakravarti, A. (2019) Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine. 380:1421-1432
|
Uyttebroek, L., Shepherd, I.T., Vanden Berghe, P., Hubens, G., Timmermans, J.P., Van Nassauw, L. (2016) The zebrafish mutant lessen: an experimental model for congenital enteric neuropathies. Neurogastroenterology and motility. 28(3):345-57
|
Wang, B., Fang, X., Sun, X., Du, C., Zhou, L., Lv, X., Li, Y., Li, H., Tang, W. (2021) m6A demethylase ALKBH5 suppresses proliferation and migration of enteric neural crest cells by regulating TAGLN in Hirschsprung's disease. Life sciences. 278:119577
|
Wang, J., Xiao, J., Meng, X., Chu, X., Zhuansun, D.D., Xiong, B., Feng, J. (2021) NOX5 is expressed aberrantly but not a critical pathogenetic gene in Hirschsprung disease. BMC pediatrics. 21:153
|
Windster, J.D., Kakiailatu, N.J.M., Kuil, L.E., Antanaviciute, A., Sacchetti, A., MacKenzie, K.C., Peulen-Zink, J., Kan, T.W., Bindels, E., de Pater, E., Doukas, M., van den Bosch, T.P.P., Yousefi, S., Barakat, T.S., Meeussen, C., Sloots, C.E.J., Wijnen, R.M.H., Parikh, K., Boesmans, W., Melotte, V., Hofstra, R.M.W., Simmons, A., Alves, M.M. (2024) Human enteric glia diversity in health and disease: new avenues for the treatment of Hirschsprung disease. Gastroenterology. :
|
Xiao, J., Meng, X., Chen, K., Wang, J., Wu, L., Chen, Y., Yu, X., Feng, J., Li, Z. (2022) Down-Regulation of Double C2 Domain Alpha Promotes the Formation of Hyperplastic Nerve Fibers in Aganglionic Segments of Hirschsprung's Disease. International Journal of Molecular Sciences. 23(18)
|
Zhong, Y., So, M.T., Ma, Z., Zhang, D., Wang, Y., Xiong, Z., Fadista, J., Song, Y.Q., Cheah, K.S., Alves, M.M., Borrego, S., Ceccherini, I., Pakarinen, M.P., Feenstra, B., Lui, V.C., Garcia-Barcelo, M.M., Sham, P.C., Tam, P.K., Tang, C.S. (2025) Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung disease. EBioMedicine. 115:105680105680
|