Search results for " Skin"

showing 10 items of 1220 documents

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

2015

Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…

Models MolecularCandidate geneHirsutismProtein ConformationHeLa Cellmedicine.disease_causeTranscriptomeTwist transcription factorModelsGenetics(clinical)ExomeEye AbnormalitiesNon-U.S. Gov'tExomeGenetics (clinical)ZebrafishGeneticsMutationMicroscopyMacrostomiaSetleis syndromeHypertelorismResearch Support Non-U.S. Gov'tHypertrichosiEyelid DiseaseGENÉTICAPhenotypeEyelid DiseasesAbnormalitiesMultipleSequence AnalysisHumanChromatin ImmunoprecipitationMolecular Sequence DataMutation MissenseHypertrichosisAbnormalities; Multiple; Amino Acid Sequence; Animals; Base Sequence; Chromatin Immunoprecipitation; Exome; Eye Abnormalities; Eyelid Diseases; HeLa Cells; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Microscopy; Electron; Molecular Sequence Data; Mutation; Missense; Protein Conformation; Repressor Proteins; Sequence Analysis; DNA; Skin Abnormalities; Twist Transcription Factor; Zebrafish; Models; Molecular; Phenotype; Genetics; Genetics (clinical)Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0]BiologyResearch SupportElectronArticleFrameshift mutationGeneticAblepharon macrostomia syndromeSkin AbnormalitieGeneticsmedicineJournal ArticleAnimalsHumansAbnormalities MultipleAmino Acid SequenceNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Base SequenceAnimalTwist-Related Protein 1MolecularSequence Analysis DNADNARepressor Proteinmedicine.diseaseRepressor ProteinsTwist Transcription FactorEye AbnormalitieMicroscopy ElectronMutationSkin Abnormalitiessense organsMissenseNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]HeLa CellsAmerican journal of human genetics
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Lisdexamfetamine in the treatment of moderate-to-severe binge eating disorder in adults: systematic review and exploratory meta-analysis of publicly …

2016

Michele Fornaro,1,2 Marco Solmi,3–5 Giampaolo Perna,2,6 Domenico De Berardis,2,7 Nicola Veronese,5,8 Laura Orsolini,2,9 Licinia Ganança,1,10 Brendon Stubbs11,12 1New York State Psychiatric Institute, Columbia University, New York City, NY, USA; 2Polyedra Research Group®, Ascoli, 3Department of Neurosciences, University of Padua, 4Department of Mental Health, National Health Service, Padova, 5IREM Institute for Clinical Research and Education in Medicine, Padova, 6Department of Clinical Neurosciences, Hermanas Hospitalarias – Villa San Benedetto Menni Hospital, FoRiPsi, Albese con Cassano, Como, 7Department of Mental Health, Psychiatric Service of Diagn…

Moderate to severemedicine.medical_specialtyNeuropsychiatric Disease and TreatmentNeurosciences. Biological psychiatry. Neuropsychiatrymeta-analysis.Placebolisdexamfetaminemeta-analysilaw.inventionFood and drug administration03 medical and health sciencessystematic-review0302 clinical medicineRandomized controlled trialsystematic reviewBinge-eating disorderlawmedicinebinge eating disorderlisdexamfetamine binge eating disorder systematic review meta-analysisPsychiatryRC346-429Original Researchbusiness.industrydigestive oral and skin physiologymedicine.disease030227 psychiatrymeta-analysisLisdexamfetamineMeta-analysisbinge eating disorder; lisdexamfetamine; meta-analysis; systematic reviewNeurology. Diseases of the nervous systembusiness030217 neurology & neurosurgerymedicine.drugRC321-571Neuropsychiatric disease and treatment
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The membrane distal half of gp130 is responsible for the formation of a ternary complex with IL-6 and the IL-6 receptor

1995

AbstractGp130 is the signal transducing subunit of the interleukin-6 receptor. Signaling is initiated by the complex formation of gp130 with IL-6 bound to the IL-6 receptor (IL-6R). We have subdivided the extracellular domain of gp130 in two parts and expressed the mutant proteins as soluble IgG fusion proteins in COS-7 cells. By studying the formation of the ternary complex we show that the membrane distal half of gp130 which contains a cytokine receptor domain is responsible for the interaction with the IL-6/IL-6R complex. Interestingly this is the same region which is believed to be involved in specific recognition of the related cytokines LIF, OM, and probably also of CNTF and IL-11.

Molecular Sequence DataBiophysicsBiologyBiochemistryCytokine receptor domainCell Linegp130Structure-function analysisAntigens CDStructural BiologyCytokine Receptor gp130GeneticsAnimals5-HT5A receptorReceptorMolecular BiologyTernary complexMembrane GlycoproteinsBase SequenceInterleukin-6digestive oral and skin physiologyHaplorhiniReceptors InterleukinCell BiologyGlycoprotein 130Receptors Interleukin-6Fusion proteinbiological factorsCell biologyOligodeoxyribonucleotidesInterleukin-6 receptorCancer researchSignal transductionCytokine receptorProtein BindingSignal TransductionFEBS Letters
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Multivariate analysis of defensive phase in football: Identification of successful behavior patterns of 2014 Brazil FIFA World Cup

2021

The aim of this study was to identify variables associated with direct recovery of the ball during defensive transitions in elite soccer and to propose a model with certain guarantees of success based on a multivariate analysis in which binary logistic regression was used to explore interaction between variables. 1,722 defensive transitions were analysed in the final stages of the FIFA World Cup 2014 in Brazil and investigated the following variables: duration of defensive transition; possession loss zone; position of players at the start and end of the defensive transitions, defensive organization, general defensive approach, period of the match, position of defence line, zone in which the…

Multivariate analysisMetodología observacionalelite footballLogistic regressionPhysical Therapy Sports Therapy and RehabilitationFootballmatch analysisLogistic regressionFútbol de eliteMetodoloxía observacionalObservational methodologyAnálise de partidoFútbol de éliteStatisticsSoccerAnálisis de partidoEducación Física y DeportivaObservació (Mètode científic)Sport strategyObservation (Scientific method)Observational methodologyTransiciones defensivasRegresión logísticaEstratègia esportivaSpatial interactionlogistic regressiondigestive oral and skin physiologyOffensiveElite footballRegresión loxísticadefensive transitionsDefensive transitionsMatch analysisMatch analysisFutbolSports medicineobservational methodologyTransicións defensivasPsychologyhuman activitiesRC1200-1245
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Dūņu kosmētikas zīmolu "Marence skincare" un "Kemmern" mārketinga komunikācija sociālajā tīklā Instagram

2021

Bakalaura darba “Dūņu kosmētikas zīmolu “Marence skincare” un “Kemmern” mārketinga komunikācija sociālajā tīklā Instagram” mērķis ir noskaidrot, kā zīmols “Marence skincare” un “Kemmern” izmanto sociālo tīklu “Instagram” zīmola atpazīstamības veicināšanai un jaunu klientu piesaistei. Darba teorētiskā daļa ietver teoriju par zīmolu, mārketingu, mārketinga komunikāciju, sociālajiem medijiem un to veidiem un specifiskāk par sociālo tīklu “Instagram”. Pēc iegūtajiem datiem tiek secināts, ka zīmolam “Kemmern” nepieciešams uzlabot mārketinga komunikāciju sociālajā tīklā “Instagram”, jo tas daļēji prot izmantot mārketinga komunikācijas instrumentus, lai veicinātu lielāku auditorijas iesaisti un sa…

MārketingsZīmolsInstagramSociālie tīkliMarence skincareKomunikācijas zinātne
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Development of Durum Wheat Breads Low in Sodium Using a Natural Low-Sodium Sea Salt

2020

Durum wheat is widespread in the Mediterranean area, mainly in southern Italy, where traditional durum wheat breadmaking is consolidated. Bread is often prepared by adding a lot of salt to the dough. However, evidence suggests that excessive salt in a diet is a disease risk factor. The aim of this work is to study the effect of a natural low-sodium sea salt (Saltwell&reg

Na+ reductionHealth (social science)food.ingredientSalt content030309 nutrition & dieteticssensory evaluationSodiumbreadchemistry.chemical_elementphysico-chemical and textural attributesPlant Sciencelcsh:Chemical technologyHealth Professions (miscellaneous)MicrobiologyArticle03 medical and health sciences0404 agricultural biotechnologyfoodNaClDisease risk factorlcsh:TP1-1185Food sciencelow-sodium sea salt0303 health sciencesChemistryTriticum turgidum L. subsp. durum DesfSea saltdigestive oral and skin physiologyfood and beverages04 agricultural and veterinary sciencesWheat breadTriticum turgidum L. subsp. durum Desf bread NaCl low-sodium sea salt Na+ reduction physico-chemical and textural attributes sensory evaluation040401 food scienceTriticum turgidum L. subsp. durum Desf.Modified atmosphereMediterranean areaFood ScienceLow sodiumFoods
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Quantification of melanin and hemoglobin in humain skin from multispectral image acquisition: use of a neuronal network combined to a non-negative ma…

2012

International audience; This article presents a multispectral imaging system which, coupled with a neural network-based algorithm, reconstructs reflectance cubes. The reflectance spectra are obtained using artificial neural-netwok reconstruction which generates reflectance cubes from acquired multispectral images. Then, a blind source separation algorithm based on Non-negative Matrix Factorization is used for the decomposition of human skin absorption spectra in its main pigments: melanin and hemoglobin. The analysis is performed on reflectance spectra. The implemented source separation algorithm is based on a multiplicative coefficient upload. The goal is to represent a given spectrum as t…

Non-Negative Matrix FactorizationBlind Source Separation Algorithms[ INFO.INFO-TS ] Computer Science [cs]/Signal and Image Processing[INFO.INFO-TS]Computer Science [cs]/Signal and Image ProcessingMulti/Hyper-Spectral ImagingNeural Networks[INFO.INFO-TS] Computer Science [cs]/Signal and Image ProcessingHuman Skin Absorbance Spectrum[ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processingReflectance Cube Reconstruction[SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing[SPI.SIGNAL] Engineering Sciences [physics]/Signal and Image processingHuman Skin Absorbance Spectrum.
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An evaluation of the antireflux properties of sodium alginate by means of combined multichannel intraluminal impedance and pH-metry.

2005

Summary Background : Alginate-based preparations act as mechanical antireflux barrier, which can reduce both acid and non-acid reflux events and limit the proximal migration of oesophageal refluxate. Aim : To evaluate all the above features with a novel technique, multichannel electrical impedance and pH-metry. Methods : Ten reflux patients underwent stationary impedancemetry and pH-metry after eating a refluxogenic meal. They were studied 1 h in basal conditions and 1 h after taking 10 mL of Gaviscon Advance. In both sessions, measurements were obtained in right lateral and supine decubitus. Results : Alginate preparation was able to decrease significantly (P < 0.05) the number of acid ref…

Novel techniqueAdultMalemedicine.medical_specialtySYMPTOMATIC TREATMENTACID REFLUXAlginatesSymptomatic treatmentSilicic AcidUrologySupine decubitusGASTROESOPHAGEAL-REFLUX DISEASEAluminum HydroxideGastric AcidPh metrymedicineHumansPharmacology (medical)Sodium alginateGASTROESOPHAGEAL-REFLUX DISEASE; SYMPTOMATIC TREATMENT; ACID REFLUXAgedHepatologybusiness.industrydigestive oral and skin physiologyGastroenterologyRefluxHydrogen-Ion ConcentrationMiddle Ageddigestive system diseasesSurgeryClinical PracticeDrug CombinationsSodium BicarbonateGastroesophageal RefluxDrug EvaluationFemaleAntacidsbusinessAlimentary pharmacologytherapeutics
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NMR spectroscopy evaluation of direct relationship between soils and molecular composition of red wines from Aglanico grapes

2010

1H NMR spectroscopy was employed to investigate the molecular quality of Aglianico red wines from the Campania region of Italy. The wines were obtained from three different Aglianico vineyards characterized by different microclimatic and pedological properties. In order to reach an objective evaluation of “terroir” influence on wine quality, grapes were subjected to the same winemaking procedures. The careful subtraction of water and ethanol signals from NMR spectra allowed to statistically recognize the metabolites to be employed in multivariate statistical methods: Principal Component Analysis (PCA), Discriminant Analysis (DA) and Hierarchical Clustering Analysis (HCA). The three wines we…

Nuclear Magnetic ResonanceSettore AGR/13 - Chimica AgrariaAnalytical chemistryMultivariate statistical analysiBiochemistryAnalytical ChemistryChemometricsEnvironmental ChemistryOrganic matterFood scienceSpectroscopyWinemakingTerroirWinechemistry.chemical_classificationterroirChemistrydigestive oral and skin physiologyfood and beveragesNuclear magnetic resonance spectroscopyNuclear Magnetic Resonance; Aglianico red wines; Multivariate statistical analysis; terroirAglianico red wineSoil waterPrincipal component analysisSettore AGR/16 - Microbiologia Agraria
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Bootstrap Technique to Study Correlation Between Neutron Skin Thickness and the Slope of Symmetry Energy in Atomic Nuclei

2017

We present a new statistical tool based on random sampling to assess the confidence interval of Pearson's and Spearman's correlation coefficients. These estimators are then used to quantify the statistical correlations among the neutron skin thickness of atomic nuclei and the slope of the symmetry energy in the infinite nuclear medium.

Nuclear TheoryNuclear TheoryFOS: Physical sciencesGeneral Physics and Astronomy01 natural sciencesSkin thickness114 Physical sciencesNuclear Theory (nucl-th)Correlationnuclear physics0103 physical sciencesMEAN-FIELD DESCRIPTIONNeutron010306 general physicsNuclear ExperimentPhysicsta114010308 nuclear & particles physicsEstimator16. Peace & justiceConfidence intervalSymmetry (physics)Computational physicsAtomic nucleusneutron skinydinfysiikkaEnergy (signal processing)
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