Search results for "CHAIN ISOFORM"

showing 3 items of 3 documents

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

2006

We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection ( TAAD) and patent ductus arteriosus (PDA)(1,2) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells (SMC). All individuals bearing the heterozygous mutations, even if asymptomatic, showed marked aortic stiffness. Examination of pathological aortas showed large areas of medial degeneration with very low SMC content. Abnormal immunological recognition of SM-MHC and the colocal…

AdultMalePathologymedicine.medical_specialty[SDV]Life Sciences [q-bio]Molecular Sequence DataANEURYSM/DISSECTION030204 cardiovascular system & hematologyBiologyThoracic aortic aneurysmProtein Structure SecondaryDISEASEFamilial thoracic aortic aneurysmCOILED-COILS03 medical and health sciencesAortic aneurysm0302 clinical medicineDuctus arteriosusGeneticsmedicineMYH11LOCUSHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyAmino Acid SequenceDuctus Arteriosus Patent[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular Biology030304 developmental biologyAortic dissection0303 health sciencesAortic Aneurysm ThoracicBase SequenceMyosin Heavy ChainsSMC proteinHEAVY-CHAIN ISOFORMSAnatomymedicine.diseasePedigreeAortic Dissectionmedicine.anatomical_structureMutationbiology.proteincardiovascular systemFemaleACTA2SMOOTH-MUSCLE MYOSIN
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Neuromuscular electrical stimulation training induces atypical adaptations of the human skeletal muscle phenotype: a functional and proteomic analysis

2011

Import JabRef | WosArea Physiology; Sport Sciences; International audience; The aim of the present study was to define the chronic effects of neuromuscular electrical stimulation (NMES) on the neuromuscular properties of human skeletal muscle. Eight young healthy male subjects were subjected to 25 sessions of isometric NMES of the quadriceps muscle over an 8-wk period. Needle biopsies were taken from the vastus lateralis muscle before and after training. The training status, myosin heavy chain (MHC) isoform distribution, and global protein pattern, as assessed by proteomic analysis, widely varied among subjects at baseline and prompted the identification of two subgroups: an "active" (ACT) …

AdultMalemedicine.medical_specialtyPathologyProteomePhysiologyVastus lateralis muscleCHAIN ISOFORMMuscle ProteinsElectric Stimulation TherapyStimulationIsometric exerciseBiologyOBSTRUCTIVE PULMONARY-DISEASEMuscle hypertrophy03 medical and health sciences0302 clinical medicineSTRIATED-MUSCLEIsometric ContractionPhysiology (medical)Internal medicineMyosinmedicineHumansHEAT-SHOCK PROTEINSOXIDATIVE STRESSMuscle SkeletalRESISTANCE EXERCISE030304 developmental biologyCLUSTER-ANALYSISALPHA-ACTIN0303 health sciences[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/NeuroscienceSkeletal muscleMYOFIBER HYPERTROPHYAdaptation PhysiologicalPhenotypeEndocrinologymedicine.anatomical_structureMotor unit recruitment[ SCCO.NEUR ] Cognitive science/NeuroscienceFIBER CONTRACTILE PROPERTIESMyofibril030217 neurology & neurosurgery
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Downregulation of myogenic microRNAs in sub-chronic but not in sub-acute model of daunorubicin-induced cardiomyopathy

2016

Cardiac muscle-related microRNAs play important roles in cardiac development and disease by translational silencing of mRNAs, the dominant mechanism of microRNA action. To test whether they could be involved in daunorubicin-associated cardiomyopathy (DACM), we determined expression patterns of myomiRs in two distinct models of DACM. We used 10–12 weeks old male Wistar rats. In the sub-acute model, rats were administered with six doses of daunorubicin (DAU-A, 3 mg/kg, i.p., every 48 h). Rats were sacrificed two days after the last dose. In the sub-chronic model, anaesthetized rats were administered a single dose of daunorubicin (15 mg/kg, i.v., DAU-C). Age-matched controls (CON) receive…

Settore BIO/17 - IstologiaMale0301 basic medicinemedicine.medical_specialtyAnthracyclineCardiomyopathyDaunorubicinClinical BiochemistryCardiomyopathyDown-RegulationMuscle ProteinsAnthracyclineBiology03 medical and health sciencesDownregulation and upregulationInternal medicineGene expressionmedicineAnimalsRats WistarMolecular BiologyNADPH oxidaseNADPH oxidaseDaunorubicinMyosin heavy chain isoformMicroRNACell BiologyGeneral Medicinemedicine.diseaseRatsDisease Models AnimalMicroRNAs030104 developmental biologyEndocrinologybiology.proteinMYH7Gene expressionMYH6Cardiomyopathiesmedicine.drugMolecular and Cellular Biochemistry
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