Veronique Pingault

Summary

Country: France

Publications

  1. pmc Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness
    Veronique Pingault
    Equipe 11, Institut National de la Santé et de la Recherche Médicale Unité 955, 94000 Creteil, France
    Am J Hum Genet 92:707-24. 2013
  2. doi request reprint Review and update of mutations causing Waardenburg syndrome
    Veronique Pingault
    Inserm Unite U955, Département de génétique, Laboratoire de Biochimie et Génétique, Hopital Henri Mondor, Creteil, France
    Hum Mutat 31:391-406. 2010
  3. pmc Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
    Viviane Baral
    INSERM, U955, equipe11, Creteil, France
    PLoS ONE 7:e41927. 2012
  4. pmc Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
    Nadege Bondurand
    INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
    Am J Hum Genet 81:1169-85. 2007
  5. ncbi request reprint Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
    Laure Stanchina
    INSERM, U654, Bases moléculaires et cellulaires des maladies génétiques, Hopital Henri Mondor, Creteil, F 94000, France Université Paris 12, Faculte de Medecine, IFR10, Creteil, F 94000, France
    Dev Biol 295:232-49. 2006
  6. doi request reprint Sox10 and Itgb1 interaction in enteric neural crest cell migration
    Yuli Watanabe
    INSERM U955, Equipe 11, F 94000 Creteil, France Université Paris Est, UMR_S955, UPEC, F 94000 Creteil, France
    Dev Biol 379:92-106. 2013
  7. doi request reprint Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome
    Asma Chaoui
    INSERM U955, Hopital Henri Mondor, Creteil, France
    Hum Mutat 32:1436-49. 2011
  8. doi request reprint Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations
    Asma Chaoui
    INSERM, U955, Equipe 6, 51 Avenue du Marechal de Lattre de Tassigny, F 94000 Creteil, France, Universite Paris Est, UPEC, F 94000 Creteil, France, DHU Ageing Thorax Vessel Blood, F 94000 Creteil, France
    Hum Mol Genet 24:4933-47. 2015
  9. doi request reprint An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease
    Laure Lecerf
    INSERM, U955, equipe11, Creteil, France Université Paris Est, Faculte de Medecine, Creteil, France
    Hum Mutat 35:303-7. 2014
  10. pmc Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
    Nadege Bondurand
    INSERM, U955, equipe11, Hopital Henri Mondor, Creteil, France
    Eur J Hum Genet 20:990-4. 2012

Collaborators

Detail Information

Publications13

  1. pmc Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness
    Veronique Pingault
    Equipe 11, Institut National de la Santé et de la Recherche Médicale Unité 955, 94000 Creteil, France
    Am J Hum Genet 92:707-24. 2013
    ....
  2. doi request reprint Review and update of mutations causing Waardenburg syndrome
    Veronique Pingault
    Inserm Unite U955, Département de génétique, Laboratoire de Biochimie et Génétique, Hopital Henri Mondor, Creteil, France
    Hum Mutat 31:391-406. 2010
    ..In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling...
  3. pmc Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
    Viviane Baral
    INSERM, U955, equipe11, Creteil, France
    PLoS ONE 7:e41927. 2012
    ..Functional analyses argued against a pathogenic effect of these variations, suggesting that mutations within regulatory elements of WS genes are not a major cause of this neurocristopathy...
  4. pmc Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
    Nadege Bondurand
    INSERM U841, Institut Mondor de Recherche Biomedicale, Département de génétique, Universite Paris 12, Paris, France
    Am J Hum Genet 81:1169-85. 2007
    ..This study further characterizes the molecular complexity and the close relationship that links the different subtypes of WS...
  5. ncbi request reprint Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
    Laure Stanchina
    INSERM, U654, Bases moléculaires et cellulaires des maladies génétiques, Hopital Henri Mondor, Creteil, F 94000, France Université Paris 12, Faculte de Medecine, IFR10, Creteil, F 94000, France
    Dev Biol 295:232-49. 2006
    ..These data will contribute to the understanding of the molecular basis of ENS, pigmentation and hearing defects observed in mouse mutants and patients carrying SOX10, EDN3 and EDNRB mutations...
  6. doi request reprint Sox10 and Itgb1 interaction in enteric neural crest cell migration
    Yuli Watanabe
    INSERM U955, Equipe 11, F 94000 Creteil, France Université Paris Est, UMR_S955, UPEC, F 94000 Creteil, France
    Dev Biol 379:92-106. 2013
    ....
  7. doi request reprint Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome
    Asma Chaoui
    INSERM U955, Hopital Henri Mondor, Creteil, France
    Hum Mutat 32:1436-49. 2011
    ..Whether this phenomenon is a cause or a consequence of mutation-associated pathogenicity remains to be determined, but this observation could help to identify new SOX10 modes of action...
  8. doi request reprint Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations
    Asma Chaoui
    INSERM, U955, Equipe 6, 51 Avenue du Marechal de Lattre de Tassigny, F 94000 Creteil, France, Universite Paris Est, UPEC, F 94000 Creteil, France, DHU Ageing Thorax Vessel Blood, F 94000 Creteil, France
    Hum Mol Genet 24:4933-47. 2015
    ..We propose that such a dominant negative effect may contribute to or be at the origin of the unique progressive and severe neurological phenotype observed in affected patients. ..
  9. doi request reprint An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease
    Laure Lecerf
    INSERM, U955, equipe11, Creteil, France Université Paris Est, Faculte de Medecine, Creteil, France
    Hum Mutat 35:303-7. 2014
    ..The present findings suggest that the mutations within SOX10 enhancers contribute to isolated HSCR. ..
  10. pmc Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
    Nadege Bondurand
    INSERM, U955, equipe11, Hopital Henri Mondor, Creteil, France
    Eur J Hum Genet 20:990-4. 2012
    ..This opens up new routes to the molecular dissection of neural crest disorders...
  11. doi request reprint Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10
    Veronique Pingault
    Hopital Henri Mondor, AP HP, Laboratoire de Biochimie et Génétique, Creteil, France INSERM, U955, Equipe 11, Creteil, France Université Paris Est, UMR_S955, UPEC, Creteil, France
    Am J Med Genet A 164:2344-50. 2014
    ..No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found. In addition, one of the patients has esophageal achalasia, which has rarely been described in WS...
  12. ncbi request reprint SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
    Veronique Pingault
    INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hopital Henri Mondor, 94010 Creteil Cedex, France
    Hum Genet 111:198-206. 2002
    ..These results show that chronic intestinal pseudo-obstruction may be a manifestation associated with WS, and indicate that aganglionosis is not the only mechanism underlying the intestinal dysfunction of patients with SOX10 mutations...
  13. doi request reprint The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the γ subunit in hair cells
    Deborah Scheffer
    INSERM, Equipe Avenir, Unite 841, Creteil, France
    J Neurochem 103:2651-64. 2007
    ..We suggest that hair cells transiently express α1γ-containing nAChRs in addition to α9α10, and that these may have a role during development of the inner ear innervation...