Of mice and men: molecular genetics of congenital heart diseaseReportar como inadecuado

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Cellular and Molecular Life Sciences

, Volume 71, Issue 8, pp 1327–1352

First Online: 10 August 2013Received: 03 June 2013Revised: 16 July 2013Accepted: 18 July 2013DOI: 10.1007-s00018-013-1430-1

Cite this article as: Andersen, T.A., Troelsen, K

L.L. & Larsen, L.A. Cell. Mol. Life Sci. 2014 71: 1327. doi:10.1007-s00018-013-1430-1


Congenital heart disease CHD affects nearly 1 % of the population. It is a complex disease, which may be caused by multiple genetic and environmental factors. Studies in human genetics have led to the identification of more than 50 human genes, involved in isolated CHD or genetic syndromes, where CHD is part of the phenotype. Furthermore, mapping of genomic copy number variants and exome sequencing of CHD patients have led to the identification of a large number of candidate disease genes. Experiments in animal models, particularly in mice, have been used to verify human disease genes and to gain further insight into the molecular pathology behind CHD. The picture emerging from these studies suggest that genetic lesions associated with CHD affect a broad range of cellular signaling components, from ligands and receptors, across down-stream effector molecules to transcription factors and co-factors, including chromatin modifiers.

KeywordsCongenital heart disease CHD Disease genes Copy number variants CNVs  Download fulltext PDF

Autor: Troels Askhøj Andersen - Karin de Linde Lind Troelsen - Lars Allan Larsen

Fuente: https://link.springer.com/

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