Search results for "CONGENITAL HEART-DISEASE"
showing 2 items of 2 documents
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
2018
Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere with the metabolism of other RNAs through titration of the Muscleblind-like (MBNL) RNA binding proteins. DM2 follows a more favorable clinical course than DM1, suggesting that specific modifiers may modulate DM severity. Here, we report that the rbFOX1 RNA binding protein binds to expanded CCUG RNA repeats, but not to expanded CUG RNA repeats. Interestingly, rbFOX1 competes with MBNL1 for binding to CCUG expanded repeats and overexpression of rbFOX1 partly releases MBNL1 from sequestration within CCUG RNA foci in DM2 muscle ce…
Exercise stress CMR reveals reduced aortic distensibility and impaired right-ventricular adaptation to exercise in patients with repaired tetralogy o…
2018
International audience; The aim of our study was to evaluate the feasibility of exercise cardiac magnetic resonance (CMR) in patients with repaired tetralogy of Fallot (RTOF) and to assess right and left ventricular adaptation and aortic wall response to exercise in comparison with volunteers.Methods11 RTOF and 11 volunteers underwent prospective CMR at rest and during exercise. A supine bicycle ergometer was employed to reach twice the resting heart rate during continuous exercise, blood pressure and heart rate were recorded. Bi-ventricular parameters and aortic stiffness were assessed using accelerated cine sequences and flow-encoding CMR. A t-test was used to compare values between group…