Adams, S.E., Purkiss, A.G., Knowles, P.P., Nans, A., Briggs, D.C., Borg, A., Earl, C.P., Goodman, K.M., Nawrotek, A., Borg, A.J., McIntosh, P.B., Houghton, F.M., Kjær, S., McDonald, N.Q. (2021) A two-site flexible clamp mechanism for RET-GDNF-GFRα1 assembly reveals both conformational adaptation and strict geometric spacing. Structure (London, England : 1993). 29(7):694-708.e7
|
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)
|
Bandla, A., Melancon, E., Taylor, C.R., Davidson, A.E., Eisen, J.S., Ganz, J. (2022) A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System. International Journal of Molecular Sciences. 23(24):
|
|
|
Bonora, E., Bianco, F., Cordeddu, L., Bamshad, M., Francescatto, L., Dowless, D., Stanghellini, V., Cogliandro, R.F., Lindberg, G., Mungan, Z., Cefle, K., Ozcelik, T., Palanduz, S., Ozturk, S., Gedikbasi, A., Gori, A., Pippucci, T., Graziano, C., Volta, U., Caio, G., Barbara, G., D'Amato, M., Seri, M., Katsanis, N., Romeo, G., De Giorgio, R. (2015) Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction. Gastroenterology. 148(4):771-782.e11
|
Burcklé, C., Gaudé, H.M., Vesque, C., Silbermann, F., Salomon, R., Jeanpierre, C., Antignac, C., Saunier, S., and Schneider-Maunoury, S. (2011) Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. Human molecular genetics. 20(13):2611-27
|
|
|
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
|
|
|
|
|
Davidson, A.E., Straquadine, N.R.W., Cook, S.A., Liu, C.G., Nie, C., Spaulding, M.C., Ganz, J. (2025) A Rapid F0 CRISPR Screen in Zebrafish to Identify Regulator Genes of Neuronal Development in the Enteric Nervous System. Neurogastroenterology and motility. :e70009e70009
|
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
|
|
|
Emison, E.S., McCallion, A.S., Kashuk, C.S., Bush, R.T., Grice, E., Lin, S., Portnoy, M.E., Cutler, D.J., Green, E.D., and Chakravarti, A. (2005) A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature. 434:857-863
|
|
|
|
|
|
|
Fisher, S., Grice, E.A., Vinton, R.M., Bessling, S.L., and McCallion, A.S. (2006) Conservation of RET Regulatory Function from Human to Zebrafish Without Sequence Similarity. Science (New York, N.Y.). 312(5771):276-279
|
|
|
Ganz, J., Baker, R.P., Hamilton, M.K., Melancon, E., Diba, P., Eisen, J.S., Parthasarathy, R. (2018) Image velocimetry and spectral analysis enable quantitative characterization of larval zebrafish gut motility. Neurogastroenterology and motility. 30(9):e13351
|
Gates, M.A., Kim, L., Egan, E.S., Cardozo, T., Sirotkin, H.I., Dougan, S.T., Lashkari, D., Abagyan, R., Schier, A.F., and Talbot, W.S. (1999) A genetic linkage map for zebrafish: comparative analysis and localization of genes and expressed sequences. Genome research. 9(4):334-347
|
|
|
Goodman, K.M., Kjær, S., Beuron, F., Knowles, P.P., Nawrotek, A., Burns, E.M., Purkiss, A.G., George, R., Santoro, M., Morris, E.P., McDonald, N.Q. (2014) RET recognition of GDNF-GFRα1 ligand by a composite binding site promotes membrane-proximal self-association. Cell Reports. 8:1894-904
|
|
|
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
|
Holzschuh, J., Barrallo Gimeno, A., Ettl, A.K., Durr, K., Knapik, E.W., and Driever, W. (2003) Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. Development (Cambridge, England). 130(23):5741-5754
|
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
|
Jurynec, M.J., Xia, R., Mackrill, J.J., Gunther, D., Crawford, T., Flanigan, K.M., Abramson, J.J., Howard, M.T., and Grunwald, D.J. (2008) Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. Proceedings of the National Academy of Sciences of the United States of America. 105(34):12485-12490
|
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
|
Kashuk, C.S., Stone, E.A., Grice, E.A., Portnoy, M.E., Green, E.D., Sidow, A., Chakravarti, A., and McCallion, A.S. (2005) Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. Proceedings of the National Academy of Sciences of the United States of America. 102(25):8949-8954
|
|
|
Knight, R.D., Mebus, K., d'Angelo, A., Yokoya, K., Heanue, T., and Roehl, H. (2011) Ret signalling integrates a craniofacial muscle module during development. Development (Cambridge, England). 138(10):2015-2024
|
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
|
|
|
Lam, P.Y., Kamei, C.N., Mangos, S., Mudumana, S., Liu, Y., and Drummond, I.A. (2013) odd-skipped related 2 is required for fin chondrogenesis in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(11):1284-92
|
Li, Z., Zhuansun, D., Meng, X., Yang, H., Xiao, J., Chen, Y., Wang, J., Yu, X., Li, Z., You, J., Chen, X., Feng, C., Wu, L., Chu, X., Duan, W., Wang, K., Li, Z., Tou, J., Yu, L., Tang, W., Liu, Y., Jiang, X., Ren, H., Yu, M., Yin, Q., Liu, X., Xu, Z., Wu, D., Jiao, C., Yu, D., Wu, X., Zhu, T., Yang, J., Xiang, L., Wang, J., Wang, Q., Zhou, B., Wang, D., Chen, K., Mao, H., Wang, B., Zhan, J., Wang, C.Y., Zeng, W., Chen, F., Xiong, B., Feng, J. (2025) EMB is essential for enteric nervous system development mediated by PI3K signaling. Genome Medicine. 17:102102
|
Lister, J.A., Cooper, C., Nguyen, K., Modrell, M., Grant, K., and Raible, D.W. (2006) Zebrafish Foxd3 is required for development of a subset of neural crest derivatives. Developmental Biology. 290(1):92-104
|
Liu, Y., Kaljunen, H., Pavić, A., Saarenpää, T., Himanen, J.P., Nikolov, D.B., Goldman, A. (2018) Binding of EphrinA5 to RET receptor tyrosine kinase: An in vitro study. PLoS One. 13:e0198291
|
Lopez-Rivera, E., Liu, Y.P., Verbitsky, M., Anderson, B.R., Capone, V.P., Otto, E.A., Yan, Z., Mitrotti, A., Martino, J., Steers, N.J., Fasel, D.A., Vukojevic, K., Deng, R., Racedo, S.E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G.S., Bodria, M., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Maiorana, M., Petrey, D.S., Honig, B., Lozanovski, V.J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J.A., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D.M., Crowley, T.B., Zackai, E.H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J.M., Puri, P., Barton, D., Casolari, E., Furth, S.L., Warady, B.A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C.S., Drummond, I.A., D'Agati, V., Imamoto, A., Barasch, J.M., Hildebrandt, F., Kiryluk, K., Lifton, R.P., Morrow, B.E., Jeanpierre, C., Papaioannou, V.E., Ghiggeri, G.M., Gharavi, A.G., Katsanis, N., Sanna-Cherchi, S. (2017) Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England Journal of Medicine. 376(8):742-754
|
Lucini, C., D'Angelo, L., Patruno, M., Mascarello, F., de Girolamo, P., and Castaldo, L. (2011) GDNF family ligand RET receptor in the brain of adult zebrafish. Neuroscience letters. 502(3):214-8
|
|
|
|
|
|
|
|
|
Massaquoi, M.S., Kong, G.L., Chilin-Fuentes, D., Ngo, J.S., Horve, P.F., Melancon, E., Hamilton, M.K., Eisen, J.S., Guillemin, K. (2023) Cell-type-specific responses to the microbiota across all tissues of the larval zebrafish. Cell Reports. 42:112095112095
|
McCallum, S., Obata, Y., Fourli, E., Boeing, S., Peddie, C.J., Xu, Q., Horswell, S., Kelsh, R., Collinson, L., Wilkinson, D., Pin, C., Pachnis, V., Heanue, T.A. (2020) Enteric glia as a source of neural progenitors in adult zebrafish. eLIFE. 9:
|
|
|
Montero-Balaguer, M., Lang, M.R., Sachdev, S.W., Knappmeyer, C., Stewart, R.A., De La Guardia, A., Hatzopoulos, A.K., and Knapik, E.W. (2006) The mother superior mutation ablates foxd3 activity in neural crest progenitor cells and depletes neural crest derivatives in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 235(12):3199-3212
|
|
|
|
|
Mudumana, S.P., Hentschel, D., Liu, Y., Vasilyev, A., and Drummond, I.A. (2008) odd skipped related1 reveals a novel role for endoderm in regulating kidney versus vascular cell fate. Development (Cambridge, England). 135(20):3355-3367
|
|
|
Parichy, D.M., Mellgren, E.M., Rawls, J.F., Lopes, S.S., Kelsh, R.N., and Johnson, S.L. (2000) Mutational analysis of endothelin receptor b1 (rose) during neural crest and pigment pattern development in the zebrafish Danio rerio. Developmental Biology. 227(2):294-306
|
Postlethwait, J.H, Yan, Y.-L., Gates, M.A., Horne, S., Amores, A., Brownlie, A., Donovan, A., Egan, E.S., Force, A., Gong, Z., Goutel, C., Fritz, A., Kelsh, R., Knapik, E., Liao, E., Paw, B., Ransom, D., Singer, A., Thomson, M., Abduljabbar, T.S., Yelick, P., Beier, D., Joly, J.-S., Larhammar, D., Rosa, F., Westerfield, M., Zon, L.I., Johnson, S.L., and Talbot, W.S. (1998) Vertebrate genome evolution and the zebrafish gene map. Nature Genetics. 18:345-349
|
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
|
Rastegar, S., Hess, I., Dickmeis, T., Nicod, J.C., Ertzer, R., Hadzhiev, Y., Thies, W.G., Scherer, G., and Strähle, U. (2008) The words of the regulatory code are arranged in a variable manner in highly conserved enhancers. Developmental Biology. 318(2):366-377
|
Reichenbach, B., Delalande, J.M., Kolmogorova, E., Prier, A., Nguyen, T., Smith, C.M., Holzschuh, J., and Shepherd, I.T. (2008) Endoderm-derived Sonic hedgehog and mesoderm Hand2 expression are required for enteric nervous system development in zebrafish. Developmental Biology. 318(1):52-64
|
Ren, M., Chen, X., Dai, L., Tu, J., Hu, H., Sun, X., Luo, J., Li, P., Fu, Y., Zhu, Y., Sun, W., Tang, Z., Liu, M., Ren, X., Lu, Q. (2024) Knockout of dhx38 Causes Inner Ear Developmental Defects in Zebrafish. Biomedicines. 13:
|
|
|
Saarenpää, T., Kogan, K., Sidorova, Y., Mahato, A.K., Tascón, I., Kaljunen, H., Yu, L., Kallijärvi, J., Jurvansuu, J., Saarma, M., Goldman, A. (2017) Zebrafish GDNF and its co-receptor GFRα1 activate the human RET receptor and promote the survival of dopaminergic neurons in vitro. PLoS One. 12:e0176166
|
|
|
Sheehan-Rooney, K., Swartz, M.E., Zhao, F., Liu, D., and Eberhart, J.K. (2013) Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). Disease models & mechanisms. 6(5):1285-91
|
|
|
Shepherd, I.T., Pietsch, J., Elworthy, S., Kelsh, R.N., and Raible, D.W. (2004) Roles for GFRalpha1 receptors in zebrafish enteric nervous system development. Development (Cambridge, England). 131(1):241-249
|
Stewart, R.A., Arduini, B.L., Berghmans, S., George, R.E., Kanki, J.P., Henion, P.D., and Look, A.T. (2006) Zebrafish foxd3 is selectively required for neural crest specification, migration and survival. Developmental Biology. 292(1):174-188
|
Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
|
|
|
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
|
|
|
|
|
|
|
Van Campenhout, C., Nichane, M., Antoniou, A., Pendeville, H., Bronchain, O.J., Marine, J.C., Mazabraud, A., Voz, M.L., and Bellefroid, E.J. (2006) Evi1 is specifically expressed in the distal tubule and duct of the Xenopus pronephros and plays a role in its formation. Developmental Biology. 294(1):203-219
|
Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
|
Vasilyev, A., Liu, Y., Mudumana, S., Mangos, S., Lam, P.Y., Majumdar, A., Zhao, J., Poon, K.L., Kondrychyn, I., Korzh, V., and Drummond, I.A. (2009) Collective Cell Migration Drives Morphogenesis of the Kidney Nephron. PLoS Biology. 7(1):e9
|
Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
|
Wang, J., Meng, X., Feng, C., Xiao, J., Zhao, X., Xiong, B., Feng, J. (2021) Benzophenone-3 induced abnormal development of enteric nervous system in zebrafish through MAPK/ERK signaling pathway. Chemosphere. 280:130670
|
Wang, S., Xu, P., Thorsen, J., Zhu, B., de Jong, P.J., Waldbieser, G., Kucuktas, H., and Liu, Z. (2007) Characterization of a BAC Library from Channel Catfish Ictalurus punctatus: Indications of High Levels of Chromosomal Reshuffling Among Teleost Genomes. Marine biotechnology (New York, N.Y.). 9(6):701-711
|
Wiles, T.J., Jemielita, M., Baker, R.P., Schlomann, B.H., Logan, S.L., Ganz, J., Melancon, E., Eisen, J.S., Guillemin, K., Parthasarathy, R. (2016) Host Gut Motility Promotes Competitive Exclusion within a Model Intestinal Microbiota. PLoS Biology. 14:e1002517
|
Wiles, T.J., Schlomann, B.H., Wall, E.S., Betancourt, R., Parthasarathy, R., Guillemin, K. (2020) Swimming motility of a gut bacterial symbiont promotes resistance to intestinal expulsion and enhances inflammation. PLoS Biology. 18:e3000661
|
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. :
|
Wingert, R.A., Selleck, R., Yu, J., Song, H.D., Chen, Z., Song, A., Zhou, Y., Thisse, B., Thisse, C., McMahon, A.P., and Davidson, A.J. (2007) The cdx Genes and Retinoic Acid Control the Positioning and Segmentation of the Zebrafish Pronephros. PLoS Genetics. 3(10):1922-1938
|
Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
|
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)
|