Search results for "CCTG expansion"

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Modeling of Myotonic Dystrophy Cardiac Phenotypes in Drosophila

2018

After respiratory distress, cardiac dysfunction is the second most common cause of fatality associated with the myotonic dystrophy (DM) disease. Despite the prevalance of heart failure in DM, physiopathological studies on heart symptoms have been relatively scarce because few murine models faithfully reproduce the cardiac disease. Consequently, only a small number of candidate compounds have been evaluated in this specific phenotype. To help cover this gap Drosophila combines the amenability of its invertebrate genetics with the possibility of quickly acquiring physiological parameters suitable for meaningful comparisons with vertebrate animal models and humans. Here we review available des…

0301 basic medicineDaunorubicinDiseaseBioinformaticsMyotonic dystrophyMuscleblindlcsh:RC346-42903 medical and health sciencesCTG expansionmedicineDrosophilalcsh:Neurology. Diseases of the nervous systemmyotonic dystrophybiologyRespiratory distresscardiac dysfunctionCCTG expansionRNADrosophila disease modelbiology.organism_classificationmedicine.diseasePhenotype030104 developmental biologyNeurologyHeart failureNeurology (clinical)medicine.drugFrontiers in Neurology
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Modeling of Myotonic Dystrophy Cardiac Phenotypes in

2018

After respiratory distress, cardiac dysfunction is the second most common cause of fatality associated with the myotonic dystrophy (DM) disease. Despite the prevalance of heart failure in DM, physiopathological studies on heart symptoms have been relatively scarce because few murine models faithfully reproduce the cardiac disease. Consequently, only a small number of candidate compounds have been evaluated in this specific phenotype. To help cover this gap Drosophila combines the amenability of its invertebrate genetics with the possibility of quickly acquiring physiological parameters suitable for meaningful comparisons with vertebrate animal models and humans. Here we review available des…

myotonic dystrophyNeurologycardiac dysfunctionCTG expansionCCTG expansionMini ReviewDrosophila disease modelMuscleblinddrugsFrontiers in neurology
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