Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes

Bérubé-Simard, Félix-Antoine et Pilon, Nicolas (2018). « Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes ». Transcription, pp. 1-8.

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Résumé

CHARGE syndrome is characterized by co-occurrence of multiple malformations due to abnormal development of neural crest cells. Here, we review the phenotypic and molecular overlap between CHARGE syndrome and similar pathologies, and further discuss the observation that neural crest cells appear especially sensitive to malfunction of the chromatin-transcription-splicing molecular hub.

Type: Article de revue scientifique
Informations complémentaires: This is an Accepted Manuscript of an article published by Taylor & Francis in Transcription on 20/09/2018, available online: https://www.tandfonline.com/doi/full/10.1080/21541264.2018.1521213
Mots-clés ou Sujets: Alternative splicing, CHARGE syndrome, Chromatin, Neural crest cells, Neurocristopathies, Spliceosomopathies
Unité d'appartenance: Centres institutionnels > Centre de recherches biomédicales (BIOMED)
Faculté des sciences > Département des sciences biologiques
Déposé par: Jean-Jacques Rondeau
Date de dépôt: 18 janv. 2019 11:14
Dernière modification: 18 janv. 2019 11:14
Adresse URL : http://archipel.uqam.ca/id/eprint/12096

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