Showing posts with label Cornelia de Lange Syndrome. Show all posts
Showing posts with label Cornelia de Lange Syndrome. Show all posts

Wednesday, October 23, 2013

Fruit flies & Cornelia de Lange syndrome. Recent review.

Dorsett D. What fruit flies can tell us about human birth defects. Mo Med. 2013 Jul-Aug;110(4):309-13. PMID: 24003648.

From the abstract: "Here we describe how understanding a gene's function in fruit flies has illuminated the etiology of Cornelia de Lange syndrome."

Wednesday, September 19, 2012

Cohesinopathies. Recent review.

This review discusses fly and other models of cohesinopathies, which include Cornelia de Lange Syndrome and Roberts Syndrome.

Horsfield JA, Print CG, Mönnich M. Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies. Front Genet. 2012;3:171. PubMed PMID: 22988450.

Among the genes discussed is Nipped-B, the fly ortholog of the human gene associated with Cornelia de Lange Syndrome. Table 1 of the review lists additional genes relevant to cohesinopathies.