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Select item 103616611.

The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung’s disease

Shuiqing Chi, Shuai Li, Guoqing Cao, Jialing Guo, Yunqiao Han, Yun Zhou, Xi Zhang, Yibo Li, Zhibin Luo, Xiangyang Li, Liying Rong, Mengxin Zhang, Linglu Li, Shaotao Tang

Front Cell Dev Biol. 2023; 11: 1184799. Published online 2023 Jul 7. doi: 10.3389/fcell.2023.1184799

PMCID:: PMC10361661

Abstract Article PDF–4.0M

Select item 97794382.

A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System

Ashoka Bandla, Ellie Melancon, Charlotte R. Taylor, Ann E. Davidson, Judith S. Eisen, Julia Ganz

Int J Mol Sci. 2022 Dec; 23(24): 15667. Published online 2022 Dec 10. doi: 10.3390/ijms232415667

PMCID:: PMC9779438

Abstract Article PDF–2.9M

Select item 96869963.

In toto imaging of early enteric nervous system development reveals that gut colonization is tied to proliferation downstream of Ret

Phillip A. Baker, Rodrigo Ibarra-García-Padilla, Akshaya Venkatesh, Eileen W. Singleton, Rosa. A. Uribe

Development. 2022 Nov 1; 149(21): dev200668. Published online 2022 Oct 31. doi: 10.1242/dev.200668

PMCID:: PMC9686996

Abstract Article

Select item 94993974.

Down-Regulation of Double C2 Domain Alpha Promotes the Formation of Hyperplastic Nerve Fibers in Aganglionic Segments of Hirschsprung’s Disease

Jun Xiao, Xinyao Meng, Ke Chen, Jing Wang, Luyao Wu, Yingjian Chen, Xiaosi Yu, Jiexiong Feng, Zhi Li

Int J Mol Sci. 2022 Sep; 23(18): 10204. Published online 2022 Sep 6. doi: 10.3390/ijms231810204

PMCID:: PMC9499397

Abstract Article PDF–3.4M

Select item 94751145.

The Polycomb group gene rnf2 is essential for central and enteric neural system development in zebrafish

Gang Feng, Yuhua Sun

Front Neurosci. 2022; 16: 960149. Published online 2022 Sep 1. doi: 10.3389/fnins.2022.960149

PMCID:: PMC9475114

Abstract Article PDF–3.3M

Select item 83729476.

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

Laura E. Kuil, Katherine C. MacKenzie, Clara S. Tang, Jonathan D. Windster, Thuy Linh Le, Anwarul Karim, Bianca M. de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E. J. Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M. H. Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K. H. Tam, Maria M. Alves, Alice S. Brooks, Robert M. W. Hofstra, Erwin Brosens

PLoS Genet. 2021 Aug; 17(8): e1009698. Published online 2021 Aug 6. doi: 10.1371/journal.pgen.1009698

PMCID:: PMC8372947

Abstract Article PDF–2.6M

Select item 82663847.

A two-site flexible clamp mechanism for RET-GDNF-GFRα1 assembly reveals both conformational adaptation and strict geometric spacing

Sarah E. Adams, Andrew G. Purkiss, Phillip P. Knowles, Andrea Nans, David C. Briggs, Annabel Borg, Christopher P. Earl, Kerry M. Goodman, Agata Nawrotek, Aaron J. Borg, Pauline B. McIntosh, Francesca M. Houghton, Svend Kjær, Neil Q. McDonald

Structure. 2021 Jul 1; 29(7): 694–708.e7. doi: 10.1016/j.str.2020.12.012

PMCID:: PMC8266384

Abstract Article

Select item 71122368.

Swimming motility of a gut bacterial symbiont promotes resistance to intestinal expulsion and enhances inflammation

Travis J. Wiles, Brandon H. Schlomann, Elena S. Wall, Reina Betancourt, Raghuveer Parthasarathy, Karen Guillemin

PLoS Biol. 2020 Mar; 18(3): e3000661. Published online 2020 Mar 20. doi: 10.1371/journal.pbio.3000661

PMCID:: PMC7112236

Abstract Article PDF–4.4M

Select item 67182719.

Retrograde Ret signaling controls sensory pioneer axon outgrowth

Adam Tuttle, Catherine M Drerup, Molly Marra, Hillary McGraw, Alex V Nechiporuk

eLife. 2019; 8: e46092. Published online 2019 Sep 2. doi: 10.7554/eLife.46092

PMCID:: PMC6718271

Abstract Article PDF–5.9M

Select item 599538710.

Binding of EphrinA5 to RET receptor tyrosine kinase: An in vitro study

Yixin Liu, Heidi Kaljunen, Ana Pavić, Tuulia Saarenpää, Juha P. Himanen, Dimitar B. Nikolov, Adrian Goldman

PLoS One. 2018; 13(6): e0198291. Published online 2018 Jun 11. doi: 10.1371/journal.pone.0198291

PMCID:: PMC5995387

Abstract Article PDF–3.5M

Select item 572266011.

Retinoic acid temporally orchestrates colonization of the gut by vagal neural crest cells

Rosa A. Uribe, Stephanie S. Hong, Marianne E. Bronner

Dev Biol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Dev Biol. 2018 Jan 1; 433(1): 17–32. Published online 2017 Nov 3. doi: 10.1016/j.ydbio.2017.10.021

PMCID:: PMC5722660

Abstract Article PDF–2.5M

Select item 555973112.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

E. Lopez-Rivera, Y.P. Liu, M. Verbitsky, B.R. Anderson, V.P. Capone, E.A. Otto, Z. Yan, A. Mitrotti, J. Martino, N.J. Steers, D.A. Fasel, K. Vukojevic, R. Deng, S.E. Racedo, Q. Liu, M. Werth, R. Westland, A. Vivante, G.S. Makar, M. Bodria, M.G. Sampson, C.E. Gillies, V. Vega-Warner, M. Maiorana, D.S. Petrey, B. Honig, V.J. Lozanovski, R. Salomon, L. Heidet, W. Carpentier, D. Gaillard, A. Carrea, L. Gesualdo, D. Cusi, C. Izzi, F. Scolari, J.A.E. van Wijk, A. Arapovic, M. Saraga-Babic, M. Saraga, N. Kunac, A. Samii, D.M. McDonald-McGinn, T.B. Crowley, E.H. Zackai, D. Drozdz, M. Miklaszewska, M. Tkaczyk, P. Sikora, M. Szczepanska, M. Mizerska-Wasiak, G. Krzemien, A. Szmigielska, M. Zaniew, J.M. Darlow, P. Puri, D. Barton, E. Casolari, S.L. Furth, B.A. Warady, Z. Gucev, H. Hakonarson, H. Flogelova, V. Tasic, A. Latos-Bielenska, A. Materna-Kiryluk, L. Allegri, C.S. Wong, I.A. Drummond, V. D’Agati, A. Imamoto, J.M. Barasch, F. Hildebrandt, K. Kiryluk, R.P. Lifton, B.E. Morrow, C. Jeanpierre, V.E. Papaioannou, G.M. Ghiggeri, A.G. Gharavi, N. Katsanis, S. Sanna-Cherchi

N Engl J Med. Author manuscript; available in PMC 2017 Aug 17.

Published in final edited form as: N Engl J Med. 2017 Feb 23; 376(8): 742–754. Published online 2017 Jan 25. doi: 10.1056/NEJMoa1609009

PMCID:: PMC5559731

Abstract Article PDF–939K

Select item 553345713.

An ancient neurotrophin receptor code; a single Runx/Cbfβ complex determines somatosensory neuron fate specification in zebrafish

Philia Gau, Andrew Curtright, Logan Condon, David W. Raible, Ajay Dhaka

PLoS Genet. 2017 Jul; 13(7): e1006884. Published online 2017 Jul 14. doi: 10.1371/journal.pgen.1006884

PMCID:: PMC5533457

Abstract Article PDF–58M

Select item 541519214.

Zebrafish GDNF and its co-receptor GFRα1 activate the human RET receptor and promote the survival of dopaminergic neurons in vitro

Tuulia Saarenpää, Konstantin Kogan, Yulia Sidorova, Arun Kumar Mahato, Igor Tascón, Heidi Kaljunen, Liying Yu, Jukka Kallijärvi, Jaana Jurvansuu, Mart Saarma, Adrian Goldman

PLoS One. 2017; 12(5): e0176166. Published online 2017 May 3. doi: 10.1371/journal.pone.0176166

PMCID:: PMC5415192

Abstract Article PDF–13M

Select item 513016915.

A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity

Tiffany A. Heanue, Werend Boesmans, Donald M. Bell, Koichi Kawakami, Pieter Vanden Berghe, Vassilis Pachnis

PLoS Genet. 2016 Nov; 12(11): e1006439. Published online 2016 Nov 30. doi: 10.1371/journal.pgen.1006439

PMCID:: PMC5130169

Abstract Article PDF–2.4M

Select item 508871816.

Molecular fingerprinting delineates progenitor populations in the developing zebrafish enteric nervous system

Charlotte R. Taylor, William A. Montagne, Judith S. Eisen, Julia Ganz

Dev Dyn. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Dev Dyn. 2016 Nov; 245(11): 1081–1096. Published online 2016 Sep 21. doi: 10.1002/dvdy.24438

PMCID:: PMC5088718

Abstract Article PDF–3.1M

Select item 496557317.

Exon Skipping in the RET Gene Encodes Novel Isoforms That Differentially Regulate RET Protein Signal Transduction

Nicole A. Gabreski, Janki K. Vaghasia, Silvia S. Novakova, Neil Q. McDonald, Brian A. Pierchala

J Biol Chem. 2016 Jul 29; 291(31): 16249–16262. Published online 2016 May 23. doi: 10.1074/jbc.M115.709675

PMCID:: PMC4965573

Abstract Article PDF–2.9M

Select item 463413718.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549

PMCID:: PMC4634137

Abstract Article PDF–5.5M

Select item 438517619.

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Qian Jiang, Stacey Arnold, Tiffany Heanue, Krishna Praneeth Kilambi, Betty Doan, Ashish Kapoor, Albee Yun Ling, Maria X. Sosa, Moltu Guy, Qingguang Jiang, Grzegorz Burzynski, Kristen West, Seneca Bessling, Paola Griseri, Jeanne Amiel, Raquel M. Fernandez, Joke B.G.M. Verheij, Robert M.W. Hofstra, Salud Borrego, Stanislas Lyonnet, Isabella Ceccherini, Jeffrey J. Gray, Vassilis Pachnis, Andrew S. McCallion, Aravinda Chakravarti

Am J Hum Genet. 2015 Apr 2; 96(4): 581–596. doi: 10.1016/j.ajhg.2015.02.014

PMCID:: PMC4385176

Abstract Article PDF–3.2M

Select item 437502620.

Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction

Elena Bonora, Francesca Bianco, Lina Cordeddu, Michael Bamshad, Ludmila Francescatto, Dustin Dowless, Vincenzo Stanghellini, Rosanna F. Cogliandro, Greger Lindberg, Zeynel Mungan, Kivanc Cefle, Tayfun Ozcelik, Sukru Palanduz, Sukru Ozturk, Asuman Gedikbasi, Alessandra Gori, Tommaso Pippucci, Claudio Graziano, Umberto Volta, Giacomo Caio, Giovanni Barbara, Mauro D'Amato, Marco Seri, Nicholas Katsanis, Giovanni Romeo, Roberto De Giorgio

Gastroenterology. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Gastroenterology. 2015 Apr; 148(4): 771–782.e11. Published online 2015 Jan 6. doi: 10.1053/j.gastro.2014.12.034

PMCID:: PMC4375026

Abstract Article PDF–1.6M

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