0000000000413716

AUTHOR

Etienne Mouisel

showing 2 related works from this author

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.

2012

Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy. Soluble activin receptor IIB (sActRIIB-Fc) inhibits signaling of myostatin and homologous molecules and increases muscle mass and function of wild-type and mdx mice. We hypothesized that combined treatment with AAV-U7 and sActRIIB-Fc may synergistically improve mdx muscle function. Bioactivity of sActRIIB-Fc on skeletal muscle was first demonstrated in wild-type mice. In mdx mice we show that AAV-U7-mediated dystrophin restoration improved specific muscle force and resistance to eccentric contractions when applied a…

musculoskeletal diseasesmdx mousemedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesDuchenne muscular dystrophyActivin Receptors Type IIGenetic VectorsMyostatinBiologyDystrophin03 medical and health sciencesMice0302 clinical medicineInternal medicineGeneticsmedicineMyocyteAnimalsMuscular dystrophyMuscle SkeletalMolecular Biology030304 developmental biology0303 health sciencesBody WeightSkeletal muscleExonsGenetic TherapyDependovirusMuscular Dystrophy Animalmedicine.diseasemusculoskeletal system3. Good healthMice Inbred C57BLEndocrinologymedicine.anatomical_structureImmunologybiology.proteinMice Inbred mdxMolecular MedicineITGA7Dystrophin030217 neurology & neurosurgeryMuscle ContractionHuman gene therapy
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La combinaison de cartographie de signatures de sélection, de re-séquençage de génomes et d'analyses d'expression révèle PARK2 et JAG2 comme nouveaux…

2015

Very few causal genes have been identified by quantitative trait loci (QTLs) mapping because of the large size ofQTLs, and most of them were identified thanks to functional links already known with the targeted phenotype.Here we propose to combine selection signature detection, SNP annotation, and expression analyses to identifycausal genes underlying QTLs. As a model, we chose experimental chicken lines divergently selected for onlyone trait, the abdominal fat weight, in which several QTLs were previously mapped. Using a new haplotypebasedstatistics exploiting the very high SNP density generated through whole genome re-sequencing, we found129 significant selective sweeps. Most of the QTLs …

[SDV] Life Sciences [q-bio]re-séquencage de génomesadiposité[ SDV ] Life Sciences [q-bio]signature de sélection[SDV]Life Sciences [q-bio]expressionannotation des SNP
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