Publications by authors named "Nadege Bondurand"

29Publications

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

Stem Cell Res 2020 10 2;48:101936. Epub 2020 Aug 2.

Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.101936DOI Listing
October 2020

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development.

Nat Commun 2020 01 10;11(1):198. Epub 2020 Jan 10.

Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, INSERM UMR 1163, Universite Paris Descartes-Universite de Paris, Paris, France.

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http://dx.doi.org/10.1038/s41467-019-14090-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954203PMC
January 2020

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

Dev Biol 2018 12 30;444 Suppl 1:S156-S169. Epub 2018 Aug 30.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France; Service de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.ydbio.2018.08.014DOI Listing
December 2018

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

Gastroenterology 2017 04 5;152(5):1139-1150.e4. Epub 2017 Jan 5.

Institut National de la Santé et de la Recherche Médicale, Créteil, France; Université Paris-Est, Faculté de Médecine, Créteil, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00165085173000
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http://dx.doi.org/10.1053/j.gastro.2016.12.034DOI Listing
April 2017

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

Dev Biol 2016 09 28;417(2):139-57. Epub 2016 Jun 28.

Vanderbilt University Medical Center, Department of Medicine, 2215 Garland Ave, Nashville, TN 37232, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2016.06.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026931PMC
September 2016

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

Hum Mol Genet 2015 Sep 9;24(17):4933-47. Epub 2015 Jun 9.

INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France,

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http://dx.doi.org/10.1093/hmg/ddv215DOI Listing
September 2015

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

Am J Med Genet A 2014 Sep 20;164A(9):2344-50. Epub 2014 May 20.

Hôpital Henri Mondor, AP-HP, Laboratoire de Biochimie et Génétique, Créteil, France; INSERM, U955, Equipe 11, Créteil, France; Université Paris Est, UMR_S955, UPEC, Créteil, France.

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http://dx.doi.org/10.1002/ajmg.a.36612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225272PMC
September 2014

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

Hum Mutat 2014 Mar 8;35(3):303-7. Epub 2014 Jan 8.

INSERM, U955, Equipe11, Créteil, France; Université Paris Est, Faculté de Médecine, Créteil, France.

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http://dx.doi.org/10.1002/humu.22499DOI Listing
March 2014

The role of SOX10 during enteric nervous system development.

Dev Biol 2013 Oct 2;382(1):330-43. Epub 2013 May 2.

INSERM, U955, Equipe 11, Hôpital Henri Mondor, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France; Université Paris Est, UMR_S955, UPEC, Créteil, F-94000 Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2013.04.024DOI Listing
October 2013

Sox10 and Itgb1 interaction in enteric neural crest cell migration.

Dev Biol 2013 Jul 19;379(1):92-106. Epub 2013 Apr 19.

INSERM U955, Equipe 11, F-94000 Créteil, France; Université Paris-Est, UMR_S955, UPEC, F-94000 Créteil, France.

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http://dx.doi.org/10.1016/j.ydbio.2013.04.013DOI Listing
July 2013

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

Hum Mutat 2011 Dec 19;32(12):1436-49. Epub 2011 Sep 19.

INSERM U955, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21583DOI Listing
December 2011

Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.

Dev Biol 2010 May 4;341(2):416-28. Epub 2010 Mar 4.

INSERM U955, IMRB, Equipe 11, Creteil, F-94010, France.

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http://dx.doi.org/10.1016/j.ydbio.2010.02.036DOI Listing
May 2010

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

J Mol Med (Berl) 2010 May 4;88(5):507-14. Epub 2010 Feb 4.

Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospital Universitario Virgen del Rocío, Avda. Manuel Siurot s/n, 41013, Seville, Spain.

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http://link.springer.com/10.1007/s00109-010-0592-7
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http://dx.doi.org/10.1007/s00109-010-0592-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235085PMC
May 2010

Review and update of mutations causing Waardenburg syndrome.

Hum Mutat 2010 Apr;31(4):391-406

INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21211DOI Listing
April 2010

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

Dev Biol 2006 Jul 3;295(1):232-49. Epub 2006 Apr 3.

INSERM, U654, Bases moléculaires et cellulaires des maladies génétiques, Hôpital Henri Mondor, Creteil, F-94000, France; Université Paris 12, Faculté de Médecine, IFR10, Créteil, F-94000, France.

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http://dx.doi.org/10.1016/j.ydbio.2006.03.031DOI Listing
July 2006

Maintenance of mammalian enteric nervous system progenitors by SOX10 and endothelin 3 signalling.

Development 2006 May 19;133(10):2075-86. Epub 2006 Apr 19.

Division of Molecular Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.

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http://dev.biologists.org/cgi/doi/10.1242/dev.02375
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http://dx.doi.org/10.1242/dev.02375DOI Listing
May 2006

Neuron and glia generating progenitors of the mammalian enteric nervous system isolated from foetal and postnatal gut cultures.

Development 2003 Dec;130(25):6387-400

Division of Molecular Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.

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http://dx.doi.org/10.1242/dev.00857DOI Listing
December 2003

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

Hum Genet 2002 Aug 6;111(2):198-206. Epub 2002 Jul 6.

INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France.

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http://dx.doi.org/10.1007/s00439-002-0765-8DOI Listing
August 2002