Search results for "SL"

showing 10 items of 12921 documents

Building Robustness into Translational Research

2020

AbstractNonclinical studies form the basis for the decision whether to take a therapeutic candidate into the clinic. These studies need to exhibit translational robustness for both ethical and economic reasons. Key findings confirmed in multiple species have a greater chance to also occur in humans. Given the heterogeneity of patient populations, preclinical studies or at least programs comprising multiple studies need to reflect such heterogeneity, e.g., regarding strains, sex, age, and comorbidities of experimental animals. However, introducing such heterogeneity requires larger studies/programs to maintain statistical power in the face of greater variability. In addition to classic sourc…

0301 basic medicine03 medical and health sciences030104 developmental biology0302 clinical medicineIn patientTranslational researchMultiple speciesRobustness (economics)Psychology030217 neurology & neurosurgeryStatistical power3. Good healthCognitive psychology
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NMR Investigation of Structures of G-Protein Coupled Receptor Folding Intermediates

2016

Folding of G-protein coupled receptors (GPCRs) according to the two-stage model (Popot, J. L., and Engelman, D. M. (1990) Biochemistry 29, 4031-4037) is postulated to proceed in 2 steps: partitioning of the polypeptide into the membrane followed by diffusion until native contacts are formed. Herein we investigate conformational preferences of fragments of the yeast Ste2p receptor using NMR. Constructs comprising the first, the first two, and the first three transmembrane (TM) segments, as well as a construct comprising TM1-TM2 covalently linked to TM7 were examined. We observed that the isolated TM1 does not form a stable helix nor does it integrate well into the micelle. TM1 is significant…

0301 basic medicine10120 Department of ChemistryBioquímicaSaccharomyces cerevisiae Proteins1303 BiochemistryProtein ConformationStereochemistrySaccharomyces cerevisiaeBiochemistryMicelleRessonància magnètica nuclear1307 Cell BiologyG03 medical and health sciencesprotein coupled receptorGPCRProtein Domains540 Chemistry1312 Molecular BiologyAmino Acid SequenceNuclear Magnetic Resonance BiomolecularMolecular BiologyMicellesG protein-coupled receptorSequence Homology Amino Acid030102 biochemistry & molecular biologyChemistryProteïnes de membranaFoldingCell BiologyTransloconPeptide FragmentsTransmembrane proteinNMRFolding (chemistry)Crystallography030104 developmental biologyStructural biology10036 Medical ClinicProtein Structure and FoldingReceptors Mating FactorHelixProtein folding
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Human skeletal muscle type 1 fibre distribution and response of stress-sensing proteins along the titin molecule after submaximal exhaustive exercise.

2017

Early responses of stress-sensing proteins, muscle LIM protein (MLP), ankyrin repeat proteins (Ankrd1/CARP and Ankrd2/Arpp) and muscle-specific RING finger proteins (MuRF1 and MuRF2), along the titin molecule were investigated in the present experiment after submaximal exhaustive exercise. Ten healthy men performed continuous drop jumping unilaterally on a sledge apparatus with a submaximal height until complete exhaustion. Five stress-sensing proteins were analysed by mRNA measurements from biopsies obtained immediately and 3 h after the exercise from exercised vastus lateralis muscle while control biopsies were obtained from non-exercised legs before the exercise. Decreased maximal jump h…

0301 basic medicineANKRD2AdultMalemedicine.medical_specialtyANKRD1HistologyAdolescentVastus lateralis musclePhysical ExertionMuscle Proteinslihaksetmedicine.disease_causetuki- ja liikuntaelimet03 medical and health sciencesYoung Adult0302 clinical medicineJumpingHsp27Internal medicinemedicinestress-sensing proteinsHumanstitinConnectinMolecular BiologyExerciseurheiluvammatbiologySkeletal muscleCell BiologyAnatomyhuman skeletal muscleMedical Laboratory Technology030104 developmental biologymedicine.anatomical_structureEndocrinologyMuscle Fibers Slow-Twitchbiology.proteinexercise induced muscle damageTitinAnkyrin repeat030217 neurology & neurosurgeryHistochemistry and cell biology
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Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-fa…

2016

AbstractWe systematically characterised multifactorial multidrug resistance (MDR) in CEM/ADR5000 cells, a doxorubicin-resistant sub-line derived from drug-sensitive, parental CCRF-CEM cells developed in vitro. RNA sequencing and network analyses (Ingenuity Pathway Analysis) were performed. Chromosomal aberrations were identified by array-comparative genomic hybridisation (aCGH) and multicolour fluorescence in situ hybridisation (mFISH). Fifteen ATP-binding cassette transporters and numerous new genes were overexpressed in CEM/ADR5000 cells. The basic karyotype in CCRF-CEM cells consisted of 47, XX, der(5)t(5;14) (q35.33;q32.3), del(9) (p14.1), +20. CEM/ADR5000 cells acquired additional aber…

0301 basic medicineATP Binding Cassette Transporter Subfamily BDNA RepairDown-RegulationChromosomal translocationABCC5ArticleTranslocation GeneticTranscriptome03 medical and health sciences0302 clinical medicineATP Binding Cassette Transporter Subfamily G Member 2HumansGeneIn Situ Hybridization FluorescenceChromosome 7 (human)GeneticsComparative Genomic HybridizationGenomeLeukemiaMultidisciplinarybiologySequence Analysis RNAGene Expression ProfilingGenomicsNeoplasm ProteinsMultiple drug resistanceGene expression profiling030104 developmental biologyDrug Resistance Neoplasm030220 oncology & carcinogenesisbiology.proteinTranscriptomeComparative genomic hybridizationScientific Reports
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Autosomal recessive hypercholesterolemia in Spain.

2017

Abstract Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel muta…

0301 basic medicineAdultGenetic MarkersMalemedicine.medical_specialtyHeterozygoteHypercholesterolemiaDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosity03 medical and health sciences0302 clinical medicineInternal medicinemedicinePrevalenceHumansGenetic Predisposition to DiseaseRegistriesChildAdaptor Proteins Signal TransducingHypolipidemic Agentsbusiness.industryGenetic heterogeneityHomozygoteInfantCholesterol LDLMiddle Agedmedicine.diseaseAtherosclerosisUp-Regulation030104 developmental biologyEndocrinologyPhenotypeAutosomal Recessive HypercholesterolemiaSpainChild PreschoolCohortMutationDisease ProgressionFemaleCardiology and Cardiovascular MedicinebusinessDyslipidemiaRare diseaseAtherosclerosis
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What the human sperm methylome tells us.

2017

Aim: To characterize the sperm methylome in semen samples from 19 donors with proven fertility. Materials & methods: Bisulfite-converted sperm DNA was hybridized on the HumanMethylation450 Infinium BeadChip platform. CpG fluorescence intensities were extracted and converted to β-values. Results: The sperm methylome is highly homogeneous and hypomethylated. Genes with hypomethylated promoters are ontologically associated to biological functions related to spermatogenesis and embryogenesis. Sex chromosomes are the most hypomethylated chromosomes, supporting data that indicated their essential role in spermatogenesis. A total of 94 genes are resistant to demethylation, being strong candid…

0301 basic medicineAdultMaleCancer ResearchPiwi-interacting RNAEmbryonic DevelopmentSemenBiologyEpigenesis Genetic03 medical and health sciencesGeneticsHumansPromoter Regions GeneticSpermatogenesisGeneGeneticsChromosomes Human XChromosomes Human YMethylationDNA MethylationSpermSpermatozoa030104 developmental biologyCpG siteDNA methylationCpG IslandsSpermatogenesisEpigenomics
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Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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High-frequency blood flow-restricted resistance exercise results in acute and prolonged cellular stress more pronounced in type I than in type II fib…

2021

Myocellular stress with high-frequency blood flow-restricted resistance exercise (BFRRE) was investigated by measures of heat shock protein (HSP) responses, glycogen content, and inflammatory markers. Thirteen participants [age: 24 ± 2 yr (means ± SD), 9 males] completed two 5-day blocks of seven BFRRE sessions, separated by 10 days. Four sets of unilateral knee extensions to failure at 20% of one-repetition maximum (1RM) were performed. Muscle samples obtained before, 1 h after the first session in the first and second block (

0301 basic medicineAdultMalemedicine.medical_specialtyPhysiologyInflammationStress (mechanics)03 medical and health sciencesYoung Adult0302 clinical medicinePhysiology (medical)Internal medicinemedicineStress ProteinsHumansType i muscle fibersMuscle SkeletalExerciseKaatsuFiber typeChemistryResistance trainingResistance Training030229 sport sciencesBlood flowMicroRNAs030104 developmental biologyEndocrinologyMuscle Fibers Slow-TwitchRegional Blood FlowFemalemedicine.symptomJournal of applied physiology (Bethesda, Md. : 1985)
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The Gut Metagenome Changes in Parallel to Waist Circumference, Brain Iron Deposition, and Cognitive Function.

2017

Context Microbiota perturbations seem to exert modulatory effects on emotional behavior, stress-, and pain-modulation systems in adult animals; however, limited information is available in humans. Objective To study potential relationships among the gut metagenome, brain microstructure, and cognitive performance in middle-aged, apparently healthy, obese and nonobese subjects after weight changes. Design This is a longitudinal study over a 2-year period. Setting A tertiary public hospital. Patients or other participants Thirty-five (18 obese) apparently healthy subjects. Intervention(s) Diet counseling was provided to all subjects. Obese subjects were followed every 6 months. Main outcome me…

0301 basic medicineAdultMalemedicine.medical_specialtyWaistEndocrinology Diabetes and MetabolismIronClinical BiochemistryHippocampusFirmicutesContext (language use)BiologyNeuropsychological TestsBiochemistryAmygdala03 medical and health sciences0302 clinical medicineEndocrinologyCognitionInternal medicinemedicineImage Processing Computer-AssistedHumansEffects of sleep deprivation on cognitive performanceLongitudinal StudiesObesityBacteroidetesBiochemistry (medical)Case-control studyBrainCognitionMiddle AgedMagnetic Resonance ImagingGastrointestinal Microbiome030104 developmental biologyEndocrinologymedicine.anatomical_structureCross-Sectional StudiesCase-Control StudiesMetagenomeFemaleWaist CircumferenceBody mass index030217 neurology & neurosurgeryTenericutesThe Journal of clinical endocrinology and metabolism
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Evolution of major non-HIV-related comorbidities in HIV-infected patients in the Italian Cohort of Individuals, Naïve for Antiretrovirals (ICONA) Fou…

2018

Objectives: The management of HIV disease is complicated by the incidence of a new spectrum of comorbid noncommunicable diseases (NCDs). It is important to document changes in the prevalence of NCDs over time. The aim of the study was to describe the impact of ageing on HIV markers and on the prevalence of NCDs in people living with HIV (PLWHIV) in the Italian Cohort of Individuals, Naïve for Antiretrovirals (ICONA) seen for care in 2004–2014. Methods: Analyses were conducted separately for a closed cohort (same people seen at both times) and an open cohort (all people under follow-up). We used the χ2 test for categorical factors and the Wilcoxon test for quantitative factors to compare pro…

0301 basic medicineAdultMalemedicine.medical_specialtynoncommunicable diseases (NCDs); persons living with HIV (PLWHIV); time trend; Health Policy; Infectious Diseases; Pharmacology (medical)persons living with HIV (PLWHIV)PopulationRenal functionInfectious DiseaseHIV InfectionsDiseaseComorbiditySettore MED/17 - MALATTIE INFETTIVENO03 medical and health sciences0302 clinical medicineInterquartile rangeInternal medicinePrevalenceMedicineHiv infected patientsHumansPharmacology (medical)030212 general & internal medicineeducationDyslipidemiaseducation.field_of_studynoncommunicable diseases (NCDs); persons living with HIV (PLWHIV); time trendFramingham Risk Scorebusiness.industryIncidence (epidemiology)Health Policynoncommunicable diseases (NCDs) persons living with HIV (PLWHIV) time trendMiddle Aged030112 virologytime trendInfectious DiseasesItalyCardiovascular DiseasesCohortHypertensionFemalebusinessnoncommunicable diseases (NCDs)HIV medicine
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