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Article
Open AccessLow human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause...
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Article
Open AccessHomozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and synda...
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Article
Open AccessNatural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
Genetic variation is an important determinant of RNA transcription and splicing, which in turn contributes to variation in human traits, including cardiovascular diseases.
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Protocol
Complex Genetics of Cardiovascular Traits in Mice: F2-Map** of QTLs and Their Underlying Genes
In this chapter, we will use the example of the identification of Tnni3k as a modulator of cardiac conduction to introduce you to the use of a murine F2-generation intercross as a powerful method for the identifi...
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Article
Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing
Jonathan Flint, Richard Mott and colleagues employ low-coverage (0.15×) sequencing and their new imputation method STITCH to perform genome-wide association analysis for complex traits in an outbred mouse popu...
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Article
Open AccessImplication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly
Apparently balanced chromosomal inversions may lead to disruption of developmentally important genes at the breakpoints of the inversion, causing congenital malformations. Characterization of such inversions m...
