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Items: 1 to 20 of 41


News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders.

Bondurand N, Dufour S, Pingault V.

Dev Biol. 2018 Aug 30. pii: S0012-1606(18)30441-X. doi: 10.1016/j.ydbio.2018.08.014. [Epub ahead of print] Review.


EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, Deggouj N, Loundon N, Jonard L, David A, Sznajer Y, Blanchet P, Marlin S, Pingault V.

Hum Mutat. 2017 May;38(5):581-593. doi: 10.1002/humu.23206. Epub 2017 Mar 15.


Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.

Watanabe Y, Stanchina L, Lecerf L, Gacem N, Conidi A, Baral V, Pingault V, Huylebroeck D, Bondurand N.

Gastroenterology. 2017 Apr;152(5):1139-1150.e4. doi: 10.1053/j.gastro.2016.12.034. Epub 2017 Jan 5.


Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis.

Gazquez E, Watanabe Y, Broders-Bondon F, Paul-Gilloteaux P, Heysch J, Baral V, Bondurand N, Dufour S.

Sci Rep. 2016 Dec 1;6:37877. doi: 10.1038/srep37877.


Corrigendum: How Tissue Mechanical Properties Affect Enteric Neural Crest Cell Migration.

Chevalier NR, Gazquez E, Bidault L, Guilbert T, Vias C, Vian E, Watanabe Y, Muller L, Germain S, Bondurand N, Dufour S, Fleury V.

Sci Rep. 2016 Sep 23;6:34118. doi: 10.1038/srep34118. No abstract available.


Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.

Bondurand N, Southard-Smith EM.

Dev Biol. 2016 Sep 15;417(2):139-57. doi: 10.1016/j.ydbio.2016.06.042. Epub 2016 Jun 28. Review.


White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies.

Burns AJ, Goldstein AM, Newgreen DF, Stamp L, Schäfer KH, Metzger M, Hotta R, Young HM, Andrews PW, Thapar N, Belkind-Gerson J, Bondurand N, Bornstein JC, Chan WY, Cheah K, Gershon MD, Heuckeroth RO, Hofstra RM, Just L, Kapur RP, King SK, McCann CJ, Nagy N, Ngan E, Obermayr F, Pachnis V, Pasricha PJ, Sham MH, Tam P, Vanden Berghe P.

Dev Biol. 2016 Sep 15;417(2):229-51. doi: 10.1016/j.ydbio.2016.04.001. Epub 2016 Apr 5. Review.


How Tissue Mechanical Properties Affect Enteric Neural Crest Cell Migration.

Chevalier NR, Gazguez E, Bidault L, Guilbert T, Vias C, Vian E, Watanabe Y, Muller L, Germain S, Bondurand N, Dufour S, Fleury V.

Sci Rep. 2016 Feb 18;6:20927. doi: 10.1038/srep20927.


A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.

Mousty E, Issa S, Grosjean F, Col JY, Khau Van Kien P, Perez MJ, Petrov Y, Reboul D, Faubert E, Le Gac MP, Bondurand N, Chiesa J, Pingault V.

Prenat Diagn. 2015 Dec;35(13):1379-81. doi: 10.1002/pd.4703. Epub 2015 Nov 3. No abstract available.


Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Chaoui A, Kavo A, Baral V, Watanabe Y, Lecerf L, Colley A, Mendoza-Londono R, Pingault V, Bondurand N.

Hum Mol Genet. 2015 Sep 1;24(17):4933-47. doi: 10.1093/hmg/ddv215. Epub 2015 Jun 9.


SOX10 mutations mimic isolated hearing loss.

Pingault V, Faubert E, Baral V, Gherbi S, Loundon N, Couloigner V, Denoyelle F, Noël-Pétroff N, Ducou Le Pointe H, Elmaleh-Bergès M, Bondurand N, Marlin S.

Clin Genet. 2015 Oct;88(4):352-9. doi: 10.1111/cge.12506. Epub 2014 Nov 6.


Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Pingault V, Pierre-Louis L, Chaoui A, Verloes A, Sarrazin E, Brandberg G, Bondurand N, Uldall P, Manouvrier-Hanu S.

Am J Med Genet A. 2014 Sep;164A(9):2344-50. doi: 10.1002/ajmg.a.36612. Epub 2014 May 20.


An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease.

Lecerf L, Kavo A, Ruiz-Ferrer M, Baral V, Watanabe Y, Chaoui A, Pingault V, Borrego S, Bondurand N.

Hum Mutat. 2014 Mar;35(3):303-7. doi: 10.1002/humu.22499. Epub 2014 Jan 8.


Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S.

PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013.


The role of SOX10 during enteric nervous system development.

Bondurand N, Sham MH.

Dev Biol. 2013 Oct 1;382(1):330-43. doi: 10.1016/j.ydbio.2013.04.024. Epub 2013 May 2. Review.


Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Pingault V, Bodereau V, Baral V, Marcos S, Watanabe Y, Chaoui A, Fouveaut C, Leroy C, Vérier-Mine O, Francannet C, Dupin-Deguine D, Archambeaud F, Kurtz FJ, Young J, Bertherat J, Marlin S, Goossens M, Hardelin JP, Dodé C, Bondurand N.

Am J Hum Genet. 2013 May 2;92(5):707-24. doi: 10.1016/j.ajhg.2013.03.024.


Sox10 and Itgb1 interaction in enteric neural crest cell migration.

Watanabe Y, Broders-Bondon F, Baral V, Paul-Gilloteaux P, Pingault V, Dufour S, Bondurand N.

Dev Biol. 2013 Jul 1;379(1):92-106. doi: 10.1016/j.ydbio.2013.04.013. Epub 2013 Apr 19.


ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.

Hum Mol Genet. 2013 Jul 1;22(13):2652-61. doi: 10.1093/hmg/ddt114. Epub 2013 Mar 5.


Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

Baral V, Chaoui A, Watanabe Y, Goossens M, Attie-Bitach T, Marlin S, Pingault V, Bondurand N.

PLoS One. 2012;7(7):e41927. doi: 10.1371/journal.pone.0041927. Epub 2012 Jul 27.


Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V.

Eur J Hum Genet. 2012 Sep;20(9):990-4. doi: 10.1038/ejhg.2012.29. Epub 2012 Feb 29.

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