Showing posts with label Cornelia de Lange Syndrome. Show all posts
Showing posts with label Cornelia de Lange Syndrome. Show all posts
Tuesday, April 29, 2014
Review of enhancers and "enhanceropathies" includes discussion of several fly studies
Smith E, Shilatifard A. Enhancer biology and enhanceropathies. Nat Struct Mol Biol. 2014 Mar;21(3):210-9. PMID: 24599251.
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."
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.
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.
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