Of mice and men: molecular genetics of congenital heart disease

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

doi:10.1007/s00018-013-1430-1

Of mice and men: molecular genetics of congenital heart disease

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

Medical Genetics Program

111 Citations (Scopus)

53 Downloads (Pure)

Abstract

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.

Original language	English
Journal	Cellular and molecular life sciences : CMLS
Volume	71
Issue number	8
Pages (from-to)	1327-1352
Number of pages	26
ISSN	1420-682X
DOIs	https://doi.org/10.1007/s00018-013-1430-1
Publication status	Published - Apr 2014

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title = "Of mice and men: molecular genetics of congenital heart disease",

abstract = "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.",

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T2 - molecular genetics of congenital heart disease

AU - Andersen, Troels Askhøj

AU - Troelsen, Karin de Linde Lind

AU - Larsen, Lars Allan

PY - 2014/4

Y1 - 2014/4

N2 - 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.

AB - 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.

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DO - 10.1007/s00018-013-1430-1

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JO - Cellular and molecular life sciences : CMLS

JF - Cellular and molecular life sciences : CMLS

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Of mice and men: molecular genetics of congenital heart disease

Abstract

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