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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.


Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.

Paul A, Marlin S, Parodi M, Rouillon I, Guerlain J, Pingault V, Couloigner V, Garabedian EN, Denoyelle F, Loundon N.

Audiol Neurootol. 2017;22(2):83-88. doi: 10.1159/000474928. Epub 2017 Jul 22.


The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

Gordon CT, Tessier A, Demir Z, Goldenberg A, Oufadem M, Voisin N, Pingault V, Bienvenu T, Lyonnet S, de Pontual L, Amiel J.

Clin Genet. 2018 Feb;93(2):356-359. doi: 10.1111/cge.13046. Epub 2017 Sep 8.


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.


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.


A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

Doubaj Y, Pingault V, Elalaoui SC, Ratbi I, Azouz M, Zerhouni H, Ettayebi F, Sefiani A.

Mol Syndromol. 2015 Feb;6(1):44-9. doi: 10.1159/000371590. Epub 2015 Jan 28.


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.


MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C, Bergsteinsdóttir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrímsson E.

Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285. Epub 2013 Jun 20.


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.


Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

Elmaleh-Bergès M, Baumann C, Noël-Pétroff N, Sekkal A, Couloigner V, Devriendt K, Wilson M, Marlin S, Sebag G, Pingault V.

AJNR Am J Neuroradiol. 2013 Jun-Jul;34(6):1257-63. doi: 10.3174/ajnr.A3367. Epub 2012 Dec 13.


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.


Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V.

Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.


Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, Bondurand N.

Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19.


A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.

Unzicker A, Pingault V, Meyer T, Rauthe S, Schütz A, Kunzmann S.

Eur J Pediatr. 2011 Nov;170(11):1475-80. doi: 10.1007/s00431-011-1539-x. Epub 2011 Aug 6.


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