Search results for "Als gene"

showing 2 items of 2 documents

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)

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Highly stable defective TiO2-x with tuned exposed facets induced by fluorine: Impact of surface and bulk properties on selective UV/visible alcohol p…

2020

Abstract Titanium dioxide samples were prepared in the presence of different amounts of fluorine via hydrothermal method. It has been found that the presence of fluoride influenced the physico-chemical properties of TiO2 in various ways as polymorphic form stability, surface hydroxylation, generation of hydroxyl radicals under irradiation and formation of Ti3+ centers and oxygen vacancies. The generation rate of OH radicals was investigated by the photoluminescence technique in the presence of terephthalic acid. X-ray diffractometry indicated that fluorine stabilized the anatase TiO2. X-Ray photoelectron spectroscopy (XPS) revealed the presence of fluorine on the surface and the shift of th…

AnataseRadical2General Physics and Astronomychemistry.chemical_elementPhotochemistry)law.inventionchemistry.chemical_compoundX-ray photoelectron spectroscopylawTiOFluorine effectIrradiationElectron paramagnetic resonanceStructural and morphological TiOChemistrySurfaces and InterfacesGeneral ChemistryOH radicals generation rateTitanium dioxide (TiOCondensed Matter PhysicsSurfaces Coatings and Films2-Propanol and 4-Methoxybenzyl alcohol photo-oxidationTitanium dioxidefacetPhotocatalysisFluorinecontrol[rad]Applied Surface Science

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