project . 2015 - 2018 . Closed

SOX10mutants

Investigating genotype-phenotype correlations in SOX10 neurocristopathies
Open Access mandate for Publications European Commission
  • Funder: European CommissionProject code: 661616 Call for proposal: H2020-MSCA-IF-2014
  • Funded under: H2020 | MSCA-IF-EF-ST Overall Budget: 195,455 EURFunder Contribution: 195,455 EUR
  • Status: Closed
  • Start Date
    01 Jul 2015
    End Date
    17 Feb 2018
  • Detailed project information (CORDIS)
  • Open Access mandate
    Research Data: No
Description
Neural crest formation is a critical event in development, giving rise multiple cell types including melanocytes, neurons and glia. This complex process is governed by a network of transcription factors, such as PAX3 and SOX10 and mutations in these genes have been associated with developmental syndromes. Waardenburg syndrome (WS) and Hirshsprung disease are examples of these neurocristopathies and patients suffer symptoms ranging from sensorineural hearing loss and pigmentation defects to intestinal aganglionosis. Over 50 case studies of WS have been reported in Europe and the incidence is estimated to be 1 in 42 000 people. Recent investigations into the molec...
Link existing DMPs with this project or start a new DMP in Argos.
Description
Neural crest formation is a critical event in development, giving rise multiple cell types including melanocytes, neurons and glia. This complex process is governed by a network of transcription factors, such as PAX3 and SOX10 and mutations in these genes have been associated with developmental syndromes. Waardenburg syndrome (WS) and Hirshsprung disease are examples of these neurocristopathies and patients suffer symptoms ranging from sensorineural hearing loss and pigmentation defects to intestinal aganglionosis. Over 50 case studies of WS have been reported in Europe and the incidence is estimated to be 1 in 42 000 people. Recent investigations into the molec...
Link existing DMPs with this project or start a new DMP in Argos.
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