Search results for "HIF"

showing 10 items of 1515 documents

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.

2013

Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein …

ProbandMaleobesity030209 endocrinology & metabolismGenes RecessiveConsanguinityBiologymedicine.disease_causeWhite PeopleFrameshift mutation03 medical and health sciencesConsanguinity0302 clinical medicineRetinitis pigmentosaGeneticsRod-cone dystrophymedicineHomeostasisHumansretinal dystrophyTUBChildEye ProteinsFrameshift MutationGenetics (clinical)030304 developmental biologyAdaptor Proteins Signal TransducingGenetics0303 health sciencesMutationHomozygoteChildhood blindnessciliatubbyChromosome MappingProteinsmedicine.diseaseUnited Kingdom3. Good healthPedigreeBrief ReportsFemaleRetinal DystrophiesRetinitis Pigmentosa
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Targeting the mitochondrial pathway to induce apoptosis/necrosis through ROS by a newly developed Schiff’s base to overcome MDR in cancer

2011

Abstract Multidrug resistance (MDR) in cancer, a major obstacle to successful application of cancer chemotherapy, is often characterized by over-expression of multidrug resistance-related proteins such as MRP1, P-gp or elevated glutathione (GSH) level. Efflux of drugs by functional P-gp, MRP1 and elevated GSH level can confer resistance to apoptosis induced by a range of different stimuli. Therefore, it is necessary to develop new cell death inducers with relatively lower toxicity toward non-malignant cells that can overcome MDR by induction of apoptotic or non-apoptotic cell death pathways. Herein we report the synthesis and spectroscopic characterization of a GSH depleting, redox active S…

Programmed cell deathMagnetic Resonance SpectroscopyNecrosisApoptosisMitochondrionBiologymedicine.disease_causeBiochemistryEhrlich ascites carcinomaMiceNecrosisCell Line TumorNeoplasmsSpectroscopy Fourier Transform InfraredmedicineAnimalsCytotoxic T cellCytotoxicitySchiff BasesCalpainCaspase 3General MedicineFlow CytometryGlutathioneMitochondriaBiochemistryDrug Resistance NeoplasmApoptosisCancer researchCalciumSpectrophotometry Ultravioletmedicine.symptomReactive Oxygen SpeciesOxidative stressBiochimie
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Substituted methyl 5β-cholan-24-oates II.13C NMR spectral assignment

1994

The 13C NMR spectra were recorded and assigned for nine derivatives of methyl 5β-cholan-24-oates (esters of bile acids) including hydroxy, oxo and/or acetyloxy groups. Assignments were based on the empirical substituent-induced chemical shifts (SCS), spectral comparison with compounds of similar structure, distortionless enhancement by polarization transfer (DEPT) and proton coupled 13C NMR measurements.

ProtonCarbon-13 NMR satelliteChemistryStereochemistryChemical shiftGeneral Materials ScienceGeneral ChemistryCarbon-13 NMRDEPTSpectral lineMagnetic Resonance in Chemistry
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Short hydrogen bonds enhance non-aromatic protein-related fluorescence

2020

AbstractFluorescence in biological systems is usually associated with the presence of aromatic groups. Here, we show that specific hydrogen bonding networks can significantly affect fluorescence employing a combined experimental and computational approach. In particular, we reveal that the single amino acid L-glutamine, by undergoing a chemical transformation leading to the formation of a short hydrogen bond, displays optical properties that are significantly enhanced compared to L-glutamine itself. Ab initio molecular dynamics simulations highlight that these short hydrogen bonds prevent the appearance of a conical intersection between the excited and the ground states and thereby signific…

ProtonChemistryHydrogen bond02 engineering and technologyConical intersection010402 general chemistry021001 nanoscience & nanotechnologyRing (chemistry)01 natural sciencesFluorescence0104 chemical sciencessymbols.namesakeChemical physicsStokes shiftMolecular vibrationExcited statesymbols0210 nano-technology
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Dependence of the lattice parameters and the energy gap of zinc-blende-type semiconductors on isotopic masses.

1996

The dependence of the ${\mathit{E}}_{0}$ direct gap of Ge, GaAs, and ZnSe on isotopic masses at low temperatures has been investigated. Contributions of the variation of the lattice parameter to the gap shift of the binary compounds have been evaluated by using a volume-dependent lattice dynamics, while local empirical pseudopotential techniques have been employed to calculate gap shifts due to electron-phonon interaction. The dependence of these terms on the lattice-dynamical model and on the q\ensuremath{\rightarrow}0 extrapolation of the pseudopotential form factors has been investigated. The contributions of the optical and acoustical modes to the isotopic shift are analyzed. The result…

PseudopotentialCondensed Matter::Materials ScienceLattice constantMaterials sciencechemistryCondensed matter physicsIsotopic shiftBand gapLattice (order)chemistry.chemical_elementGermaniumGalliumIonPhysical review. B, Condensed matter
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Pneumatoceles and pneumothoraces complicating staphylococcal pneumonia: treatment by synchronous independent lung ventilation.

1993

A 54 year old man with a staphylococcal sepsis developed staphylococcal pneumonia complicated by multiple pneumatoceles and bilateral tension pneumothoraces caused by bronchopleural fistulae. Excessive enlargement of the right sided pneumatoceles and a tension pneumothorax not improved by drainage led to mediastinal shift and compression of the right lung. Reversal of the mediastinal shift and closure of the bronchopleural fistulae was achieved by assisted independent lung ventilation.

Pulmonary and Respiratory MedicineLung DiseasesMalemedicine.medical_specialtyHerniaFistulaFistulaMediastinal ShiftPneumonia StaphylococcalmedicineHumansHerniaLungPneumatocelebusiness.industryRespiratory diseasePneumothoraxMiddle AgedPleural Diseasesmedicine.diseaseRespiration ArtificialSurgeryrespiratory tract diseasesPneumoniamedicine.anatomical_structurePneumothoraxBronchial FistulabusinessResearch ArticleThorax
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Real-time feedback systems for cardiopulmonary resuscitation training: time for a paradigm shift.

2018

Among the new tools to improve the quality of cardiopulmonary resuscitation (CPR), real-time feedback systems (FS) have been largely studied during the last decade (1). These systems permit the real-time analysis of CPR.

Pulmonary and Respiratory Medicinebusiness.industrymedicine.medical_treatmentmedia_common.quotation_subjectTraining time030208 emergency & critical care medicinemedicine.disease03 medical and health sciences0302 clinical medicineParadigm shiftMedicineQuality (business)030212 general & internal medicineCardiopulmonary resuscitationMedical emergencybusinessLetter to the Editormedia_commonJournal of thoracic disease
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Mechanostructural adaptations preceding postpneumonectomy lung growth

2012

In many species, pneumonectomy results in compensatory growth in the remaining lung. Although the late mechanical consequences of murine pneumonectomy are known, little is known about the anatomic adaptations and respiratory mechanics during compensatory lung growth. To investigate the structural and mechanical changes during compensatory growth, mice were studied for 21 days after left pneumonectomy using microCT and respiratory system impedance (FlexiVent). Anatomic changes after left pneumonectomy included minimal mediastinal shift or chestwall remodeling, but significant displacement of the heart and cardiac lobe. Mean displacement of the cardiac lobe centroid was 5.2 ± 0.8 mm. Lung imp…

Pulmonary and Respiratory Medicinemedicine.medical_specialtymedicine.medical_treatmentHysteresivityClinical BiochemistryMediastinal ShiftRespiratory physiologyPulmonary complianceBiologyArticleMicePneumonectomyInternal medicineRespirationmedicineAnimalsRegenerationPostoperative PeriodRespiratory systemPneumonectomyThoracic WallLungLung ComplianceMolecular BiologyLungRespirationElectric ConductivityOrgan SizeX-Ray MicrotomographyAnatomyAdaptation PhysiologicalElasticityMice Inbred C57BLDisease Models Animalmedicine.anatomical_structureCardiologyLung Volume MeasurementsExperimental Lung Research
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An optimal operating strategy for combined RES–based Generators and Electric Storage Systems for load shifting applications

2013

This paper focuses on an optimal operating strategy of combined RES-based generators and electric storage systems for small/medium-scale public facilities. The operating strategy can be used in load shifting applications in response to a time-of-use (TOU) rate design with differential pricing for on- and off-peak usage. Load shifting applications can be exploited by customers using battery energy storage systems (BESS) in order to reduce their electricity bill, charging the storage when off-peak time periods are applied and discharging it during on-peak periods, when electricity energy prices are high. The operating strategy is implemented within a bidirectional converter that provides an i…

Pumped-storage hydroelectricityEngineeringbusiness.industryload shifting;peak shaving;operating strategy;lithium-ion batteryElectrical engineeringlithium-ion batteryGridpeak shavingAutomotive engineeringEnergy storageRenewable energylithium–ion batteryload shiftingSettore ING-IND/33 - Sistemi Elettrici Per L'EnergiaStand-alone power systemcomponentoperating strategyElectricitybusinessLow voltageLoad shifting
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A new proof of the support theorem and the range characterization for the Radon transform

1983

The aim of this note is to give a new and elementary proof of the support theorem for the Radon transform, which is based only on the projection theorem and the Paley-Wiener theorem for the Fourier transform. The idea is to solve a certain system of linear equations in order to determine the coefficients of a homogeneous polynomial (interpolation problem). By the same method, we get a short proof of the range characterization for Radon transforms of functions supported in a ball.

Pure mathematicsFactor theoremRadon transformGeneral MathematicsProjection-slice theoremMathematical analysisElementary proofFourier inversion theoremBrouwer fixed-point theoremRadon's theoremShift theoremMathematicsManuscripta Mathematica
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