Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice

Pilon, Nicolas (2016). « Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice ». Rare Diseases, 4(1), e1156287.

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Résumé

Neurocristopathies form a specific group of rare genetic diseases in which a defect in neural crest cell development is causal. Because of the large number of neural crest cell derivatives, distinct structures/cell types (isolated or in combination) are affected in each neurocristopathy. The most important issues in this research field is that the underlying genetic cause and associated pathogenic mechanism of most cases of neurocristopathy are poorly understood. This article describes how a relatively simple insertional mutagenesis approach in the mouse has proved useful for identifying new candidate genes and pathogenic mechanisms for diverse neurocristopathies.

Type:	Article de revue scientifique
Informations complémentaires:	This is an Accepted Manuscript of an article published by Taylor & Francis in Rare Diseases on 03/03/2016, available online: http://www.tandfonline.com/10.1080/21675511.2016.1156287
Mots-clés ou Sujets:	CHARGE syndrome, enteric nervous system, Hirschsprung's disease, melanocytes, neural crest cells, neurocristopathies, pigmentation, Waardenburg syndrome
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:	07 janv. 2019 15:35
Dernière modification:	07 janv. 2019 15:35
Adresse URL :	http://archipel.uqam.ca/id/eprint/11979

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