Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice. Issue 1 (1st January 2016)

• Record Type: Journal Article
• Authors: Pilon, Nicolas
• Is Part Of: Rare diseases. Volume 4:Issue 1(2016)
• Publication Date: 2016-01-01
• Subjects: CHARGE syndrome -- enteric nervous system -- Hirschsprung's disease -- melanocytes -- neural crest cells -- neurocristopathies -- pigmentation -- Waardenburg syndrome; Rare diseases -- Periodicals; Rare Diseases; Rare diseases; Periodicals; Periodicals; 616
• DOI: 10.1080/21675511.2016.1156287
• Languages: English
• ISSNs: 2167-5511

Abstract

ABSTRACT: 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.