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Of mice and men: molecular genetics of congenital heart disease

Andersen, Troels Askhøj ; Troelsen, Karin de Linde Lind ; Larsen, Lars Allan

Cellular and molecular life sciences : CMLS, 2014-04, Vol.71 (8), p.1327-1352 [Periódico revisado por pares]

Basel: Springer-Verlag

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Título:
Of mice and men: molecular genetics of congenital heart disease
Autor: Andersen, Troels Askhøj ; Troelsen, Karin de Linde Lind ; Larsen, Lars Allan
Assuntos: animal experimentation ; animal models ; Animals ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Cardiovascular disease ; Cell Biology ; cell communication ; chromatin ; Chromosome Aberrations ; DNA Copy Number Variations - genetics ; environmental factors ; genes ; Genes - genetics ; Genetic Predisposition to Disease - genetics ; Genotype & phenotype ; heart diseases ; Heart Diseases - congenital ; Heart Diseases - genetics ; Heterotaxy Syndrome - genetics ; human diseases ; human genetics ; Humans ; Life Sciences ; ligands ; men ; Mice ; Models, Biological ; Molecular biology ; Molecular Biology - methods ; patients ; phenotype ; receptors ; Review ; Sarcomeres - genetics ; sequence analysis ; Signal Transduction - genetics ; transcription factors ; Transcription Factors - genetics
É parte de: Cellular and molecular life sciences : CMLS, 2014-04, Vol.71 (8), p.1327-1352
Notas: http://dx.doi.org/10.1007/s00018-013-1430-1
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Descrição: 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.
Editor: Basel: Springer-Verlag
Idioma: Inglês

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Of mice and men: molecular genetics of congenital heart disease

Andersen, Troels Askhøj ; Troelsen, Karin de Linde Lind ; Larsen, Lars Allan

Basel: Springer-Verlag

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