Search results for "Muscle proteins"

showing 6 items of 76 documents

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina

2011

Contains fulltext : 96822.pdf (Publisher’s version ) (Closed access) The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically heterogeneous with at least 11 chromosomal loci assigned to 3 clinical types, USH1-3. We have previously demonstrated that all USH1 and 2 proteins in the eye and the inner ear are organized into protein networks by scaffold proteins. This has contributed essentially to our current understanding of the function of USH proteins and explains why defects in proteins of different families cause very similar phenotypes. We have previously shown that the USH1G protein SANS (scaffold protein containing ankyrin repeat…

Scaffold proteinUsher syndromePhosphodiesterase 4D interacting protein (PDE4DIP)Muscle ProteinsPlasma protein bindingMice0302 clinical medicineYeastsChlorocebus aethiopsNuclear proteinCells CulturedGenetics0303 health scienceseducation.field_of_studyNuclear ProteinsCell biologyCOS CellssymbolsPhotoreceptor Cells VertebrateProtein BindingMicrotubule based transportNerve Tissue ProteinsBiologyModels BiologicalRetina03 medical and health sciencessymbols.namesakemedicineAnimalsHumanseducationMolecular BiologyAdaptor Proteins Signal Transducing030304 developmental biologyCell BiologyGlycostation disorders [IGMD 4]Golgi apparatusmedicine.diseaseMacaca mulattaMice Inbred C57BLCytoskeletal ProteinsPhotoreceptor cell functionMyomegalinGenetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6]CattleAnkyrin repeatCiliary baseIntracellular transport030217 neurology & neurosurgerySensorineuronal degeneration
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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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Effects of combined hormone replacement therapy or its effective agents on the IGF-1 pathway in skeletal muscle.

2010

Objectives To investigate the effects of combined hormone replacement therapy (HRT) and its effective agents on the IGF-1 signaling pathway. Design and methods To examine the effects of HRT on skeletal muscle in vivo, we utilized pre- and post-intervention samples from a randomized double blinded trial with 50–57-year-old women. The intervention included the year-long use of either HRT preparation (2 mg 17β-estradiol, E2; 1 mg norethisterone acetate, NETA, n = 10) or placebo (CO, n = 9). Microarray technology and quantitative PCR (qPCR) were used to study the expression of insulin-like growth factor I (IGF-1) and its splice variants as well as IGF-1 receptor, Akt1, mTOR, FOXO1, FOXO3, atrog…

estradioliTranscription GeneticEndocrinology Diabetes and MetabolismMuscle Fibers SkeletalEstrogen receptorpostmenopausal womenMuscle ProteinsFOXO1Receptor IGF Type 10302 clinical medicineEndocrinologyProtein IsoformsTestosteroneInsulin-Like Growth Factor IReceptorRandomized Controlled Trials as Topic0303 health sciencesEstradiolMyogenesisForkhead Box Protein O1TOR Serine-Threonine KinasesEstrogen Replacement TherapyForkhead Box Protein O3Forkhead Transcription FactorsMiddle Agedmedicine.anatomical_structureReceptors EstrogenReceptors AndrogenFemalemedicine.medical_specialtynorethisterone acetate030209 endocrinology & metabolismBiologypostmenopausaalinen nainen03 medical and health sciencesInternal medicinemedicineHumansnoretisteroniasetaattiluurankolihasskeletal muscleMuscle SkeletalProtein kinase BPI3K/AKT/mTOR pathway030304 developmental biologyhormonikorvaushoitoSKP Cullin F-Box Protein LigasesSkeletal muscleAndrogen receptorNorethindrone AcetateEndocrinologyHormone replacement therapyIGF-1 signalointiNorethindroneIGF-1 signalingProto-Oncogene Proteins c-aktGrowth hormoneIGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

2000

Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…

medicine.medical_specialtyDysferlinopathyDNA Mutational AnalysisMuscle ProteinsMuscular DystrophiesWestern blottingDysferlinMuscular DiseasesLamininInternal medicinemedicineMissense mutationCalpain 3HumansMuscular dystrophyDysferlinGenetics (clinical)Geneticsbiologybusiness.industryCalpainMembrane ProteinsCalpainmedicine.diseaseMuscular dystrophyLaminin alpha 2EndocrinologyMuscle proteinsNeurologyPediatrics Perinatology and Child Healthbiology.proteinNeurology (clinical)LamininbusinessMerosinLimb-girdle muscular dystrophyNeuromuscular disorders : NMD
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Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

2009

We report seven patients with immune-mediated rippling muscle disease (iRMD) and AChR-antibody positive myasthenia gravis (MG) without germline caveolin-3 gene mutations. We describe the follow-up of two patients and the clinical features of five new patients (1 female, 4 male, aged 32 to 69 years). These presented with significant generalized, exercise-induced and electrically-silent muscle rippling with myalgia, combined with generalized MG. In two of the seven patients, MG appeared before iRMD. Mediastinal imaging excluded thymic alterations in all, although two had other coincident tumours. Myalgia and rippling were aggravated by acetylcholinesterase-inhibitor treatment. Generalized MG …

myalgiaAdultMalePathologymedicine.medical_specialtyCaveolin 3Immunogenicmedicine.medical_treatmentMuscle Fibers SkeletalMuscle ProteinsCaveolin-3; Immunogenic; Myasthenia gravis; Rippling muscle disease; TherapyAzathioprineThymus GlandGene mutationBiologyCaveolaeDysferlinCaveolin-3Muscular DiseasesAzathioprineMyasthenia GravismedicineHumansMuscle SkeletalGenetics (clinical)AgedAutoantibodiesSarcolemmaElectromyographyAutoantibodyRippling muscle diseasePlasmapheresisMiddle Agedmedicine.diseaseMyasthenia gravisNeurologyPediatrics Perinatology and Child Healthbiology.proteinPlasmapheresisFemaleSteroidsTherapyNeurology (clinical)Cholinesterase Inhibitorsmedicine.symptommedicine.drugFollow-Up StudiesMuscle ContractionNeuromuscular disorders : NMD
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Decreasing muscle performance associated with increasing disease activity in patients with rheumatoid arthritis

2018

Objectives Increasing evidence suggests that inflammation has a detrimental effect on muscle strength. Our objective was to analyse the association between muscle performance and different disease activity levels in patients with rheumatoid arthritis (RA). Method A total of 199 consecutive outpatients were subject to cross-sectional assessment. Measurements of grip strength, endurance of the upper and lower limbs and trunk strength were combined as a muscle performance composite score (MPCS), using a standardised method. The disease activity for 28 joints (DAS28), radiographs of small joints (Larsen score), rheumatoid factor, body mass index (BMI), comorbidities and anti-rheumatic drugs wer…

nivelreumarheumatoid arthritisMaleINACTIVITYArthritislcsh:MedicineMuscle ProteinsComorbidityBiochemistrySeverity of Illness IndexArthritis RheumatoidGrip strength0302 clinical medicineRisk FactorsSTRENGTHCACHEXIAMedicine and Health SciencesCRITERIAPublic and Occupational Health030212 general & internal medicinelcsh:ScienceMusculoskeletal SystemINDEXPain Measurement2. Zero hungerMultidisciplinaryMusclesWOMENta3141Muscle AnalysisMiddle AgedSports Science3. Good healthBioassays and Physiological AnalysisRheumatoid arthritisStrength TrainingFemaleBONE-MINERAL DENSITYAnatomylihaskuntoResearch Articlemedicine.medical_specialtymuscle fitnessStrength trainingHEALTHY CONTROLSImmunologyRheumatoid ArthritisResearch and Analysis MethodsAutoimmune Diseases03 medical and health sciencesRheumatologyInternal medicineHand strengthmedicineRheumatoid factorHumansMuscle StrengthRisk factorSports and Exercise MedicineMuscle SkeletalExercise030203 arthritis & rheumatologybusiness.industryArthritislcsh:RENERGY-EXPENDITUREBeck Depression InventoryBiology and Life SciencesProteinsPhysical Activitymedicine.diseaseJoints (Anatomy)PHYSICAL-ACTIVITYCross-Sectional StudiesSkeletal MusclesPhysical Fitness3121 General medicine internal medicine and other clinical medicinemuscle strengthPhysical Endurancelcsh:QClinical ImmunologyClinical MedicinebusinesslihasvoimaPLoS ONE
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