Modelling genetic diseases for drug development: Hypertrophic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Pharmacological research"
DOI: 10.1016/j.phrs.2020.105176
Abstract: Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiac disease, with a prevalence of 1/500. It is caused by over 1400 different mutations, mainly involving the genes coding for sarcomere proteins. The main pathological features of… read more here.
Keywords: hypertrophic cardiomyopathy; hcm; modelling genetic; genetic diseases ... See more keywords
Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter
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DOI: 10.1038/s41467-020-19864-w
Abstract: Genetic mosaicism, a condition in which an organ includes cells with different genotypes, is frequently present in monogenic diseases of the central nervous system caused by the random inactivation of the X-chromosome, in the case… read more here.
Keywords: reporter; mosaicism; genetic mosaicism; modelling genetic ... See more keywords