Search results for "outer"

showing 10 items of 252 documents

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

2019

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…

AdultMaleAchromatopsiagenetic structuresAdolescentChild preschoolDNA Copy Number VariationsColor Vision DefectsBiologymedicine.disease_causeHeterotrimeric GTP-Binding Proteins/genetics03 medical and health sciencesExonGene duplicationGeneticsmedicineHumansGenetic Predisposition to DiseaseCopy-number variationColor Vision Defects/geneticsChildGenetics (clinical)030304 developmental biologyAgedGenetics0303 health sciencesGNAT2MutationSettore MED/30 - Malattie Apparato Visivo030305 genetics & heredityBreakpointInfantSequence Analysis DNAExonsMiddle Agedmedicine.diseaseHeterotrimeric GTP-Binding ProteinsPhotoreceptor outer segmenteye diseasesPedigreeSettore BIO/18 - GeneticaSequence Analysis DNA/methodsyoung adultFemalesense organsachromatopsia copy number variations GNAT2 mutations transducinmutation
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Presence of Rickettsia conorii subsp. israelensis , the Causative Agent of Israeli Spotted Fever, in Sicily, Italy, Ascertained in a Retrospective St…

2005

ABSTRACT A retrospective analysis by molecular-sequence-based techniques was performed to correctly identify the etiological agent of 24 Mediterranean spotted fever cases occurring in Western Sicily, Italy, from 1987 to 2001. Restriction analysis of a 632-bp PCR-amplified portion of the ompA gene allowed presumptive identification of five clinical isolates as belonging to Rickettsia conorii subsp. israelensis , the etiological agent of Israeli spotted fever (ISF). The remaining 19 rickettsial isolates were Rickettsia conorii subsp. conorii , the only pathogenic rickettsia of the spotted fever group reported in Italy until the present. Sequence analysis of the ompA gene confirmed the identif…

AdultMaleMicrobiology (medical)Settore MED/07 - Microbiologia E Microbiologia ClinicaChlamydiology and RickettsiologyMolecular Sequence DataBiologyBoutonneuse FeverRickettsiaceaeMicrobiologymedicineHumansIsraelAgedRetrospective StudiesRetrospective cohort studySequence Analysis DNAMiddle Agedmedicine.diseasebiology.organism_classificationVirologySpotted feverBoutonneuse feverRickettsia conoriiRickettsiosisRickettsiaItalyBacteria (microorganisms) Rickettsia Rickettsia conoriibacteriaFemaleRickettsia conoriiRickettsialesBacterial Outer Membrane ProteinsJournal of Clinical Microbiology
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DPOAE‐Grams in Patients with Acute Tonal Tinnitus

2005

To investigate cochlear outer hair cell function in patients with acute tonal tinnitus and normal or near-normal hearing threshold.Prospective controlled study in an academic tertiary health center. Distortion products of otoacoustic emissions (DPOAE)-grams of 32 ears with acute tonal tinnitus and normal hearing or minimal hearing loss were compared with those of 17 healthy nontinnitus ears.Tinnitus ears exhibited relatively increased amplitudes of DPOAE at high frequencies (4-6.3 kHz) when compared with the group of healthy ears and relatively decreased DPOAE amplitudes at middle frequencies (1650-2400 Hz). Statistically significant ( P0.01) increased mean values of DPOAE amplitudes were o…

AdultMalemedicine.medical_specialtySound SpectrographyAdolescentHearing lossHearing Loss SensorineuralLoudness PerceptionOtoacoustic Emissions SpontaneousAudiologyFunctional LateralityTinnitus03 medical and health sciences0302 clinical medicineReference Valuesotorhinolaryngologic diseasesmedicineHumansIn patientProspective StudiesPitch Perception030223 otorhinolaryngologyOuter hair cellsCochleaAgedAbsolute threshold of hearingbusiness.industryAuditory ThresholdMiddle AgedHair Cells Auditory Outermedicine.anatomical_structureAcoustic StimulationOtorhinolaryngology030220 oncology & carcinogenesisReference valuesAcute DiseaseFemaleSurgerysense organsHair cellmedicine.symptombusinessTinnitusOtolaryngology–Head and Neck Surgery
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Cytokeratin 20 Is a General Marker of Cutaneous Merkel Cells While Certain Neuronal Proteins Are Absent

1995

Merkel cells are difficult to identify in tissue sections. Previous studies have used cytokeratins (CK) 8, 18, and 19 as histologic markers of Merkel cells. However, these CKs are also expressed in some outer root sheath keratinocytes and some early fetal epidermal cells and thus are not truly specific of Merkel cells in general. Using selective antibodies against a newly described CK, number 20--originally found in intestinal epithelium and Merkel cell carcinomas--in comparison to a key protein of neuroendocrine cells, chromogranin A, we established CK 20 as a specific Merkel cell marker in skin of humans, pigs, and mice. CK 20 seems to be an even more general and sensitive Merkel cell mar…

AdultPathologymedicine.medical_specialtySwineCellHuman skinNerve Tissue ProteinsDermatologyKeratin-20BiologyOuter root sheathBiochemistryCytokeratinMiceFetusIntermediate Filament ProteinsmedicineAnimalsHumansMolecular BiologySkinintegumentary systemChromogranin APeripherinEpithelial CellsCell BiologyMolecular biologyImmunohistochemistrymedicine.anatomical_structurebiology.proteinMerkel cellNeuronal Cell Adhesion MoleculeBiomarkersHairJournal of Investigative Dermatology
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Effects of contralateral white noise stimulation on transitory evoked otoacoustic emissions in patients with acoustic neuroma.

1995

Abstract Transitory evoked otoacoustic emissions are normal phenomena observed in most persons with hearing levels greater than 35 dB. Further, masking of the contralateral ear produces amplitude reductions in the transitory evoked otoacoustic emissions. We have undertaken a study of transitory evoked otoacoustic emissions in 20 patients with acoustic neuroma. All patients were assessed for transitory evoked otoacoustic emissions bilaterally, with and without contralateral masking with white band noise at 40, 50, and 60 dB. We found that transitory evoked otoacoustic emissions were present in 30% of ears with tumor and that the presence of transitory evoked otoacoustic emissions is associat…

Adultmedicine.medical_specialtyHearing Loss SensorineuralAcoustic neuromaStimulationAmplitude reductionAudiologyVestibular NerveNeurons EfferentHearingotorhinolaryngologic diseasesMedicineHumansIn patientProspective StudiesAgedTumor sizebusiness.industryHead neckAuditory ThresholdNeuroma AcousticMiddle Agedmedicine.diseaseCochleaHair Cells Auditory OuterWhite bandOtorhinolaryngologyAcoustic StimulationEvoked Potentials AuditoryContralateral earSurgerysense organsbusinessNoisePetrous BoneOtolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
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Nel segno di Zeus: su alcuni louteria fittili da Akragas

2018

The study considers some louteria from Agrigento (from the Sanctuary of Zeus Olympios and the so-called Sanctuary of chthonic deities), dated from the sixth to the fifth century BC. In particular we propose a reading of the images that decorate these basins in relation to the sacred contexts in which they were used, paying particular attention to a series of louteria with running quadrigae and winged figures and an example depicting the transport of Achilles’ weapons by the Nereids. Thus symbolic imagerie which refers to the rituals and cults practised in these sacred spaces is reconstructed.

Akragas louterion NereidsSettore L-ANT/07 - Archeologia Classica
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Dynamic 2- and 3-connectivity on planar graphs

1992

We study the problem of maintaining the 2-edge-, 2-vertex-, and 3-edge-connected components of a dynamic planar graph subject to edge deletions. The 2-edge-connected components can be maintained in a total of O(n log n) time under any sequence of at most O(n) deletions. This gives O(log n) amortized time per deletion. The 2-vertex- and 3-edge-connected components can be maintained in a total of O(n log2n) time. This gives O(log2n) amortized time per deletion. The space required by all our data structures is O(n).

Amortized analysisBook embeddingPlanar straight-line graph1-planar graphPlanar graphCombinatoricssymbols.namesakePathwidthChordal graphTheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITYOuterplanar graphData_FILESsymbolsMathematicsofComputing_DISCRETEMATHEMATICSMathematics
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Characterization of the interaction of the antifungal and cytotoxic cyclic glycolipopeptide hassallidin with sterol-containing lipid membranes.

2019

Hassallidins are cyclic glycolipopeptides produced by cyanobacteria and other prokaryotes. The hassallidin structure consists of a peptide ring of eight amino acids where a fatty acid chain, additional amino acids, and sugar moieties are attached. Hassallidins show antifungal activity against several opportunistic human pathogenic fungi, but does not harbor antibacterial effects. However, they have not been studied on mammalian cells, and the mechanism of action is unknown. We purified hassallidin D from cultured cyanobacterium Anabaena sp. UHCC 0258 and characterized its effect on mammalian and fungal cells. Ultrastructural analysis showed that hassallidin D disrupts cell membranes, causin…

Antifungal AgentskolesteroliPeptideLipopeptide01 natural sciencesBiochemistrychemistry.chemical_compoundSTRUCTURE ELUCIDATIONCandida albicansMARINE CYANOBACTERIAmammalian cellsmembrane1183 Plant biology microbiology virologychemistry.chemical_classification0303 health sciencesCell DeathMembraneGlycopeptidesLipopeptideHERBICOLIN-ADEHYDROPEPTIDE LACTONEAmino acidSterolsCholesterolMembraneBiochemistrysolunsalpaajatMitochondrial Membranesmedicine.symptomBacterial outer membraneBiophysicsmechanismAntineoplastic Agentssaponin digitoninMolecular dynamicsCyanobacteriaITURIN-A03 medical and health sciencesLipopeptidesMembrane LipidsNATURAL-PRODUCTSCell Line TumormedicineHumansPropidium iodidesyanobakteerit030304 developmental biologyantimikrobiset yhdisteet010405 organic chemistryMAJOR COMPONENTCell BiologyluonnonaineetAnabaenaSterol0104 chemical sciencesMechanism of actionchemistrylipopeptidepeptiditMOLECULAR-DYNAMICS1182 Biochemistry cell and molecular biologyDrug Screening Assays AntitumorGlycolipidsBiochimica et biophysica acta. Biomembranes
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Comparison of outer membrane protein profiles of Vibrio vulnificus biotypes 1 and 2.

1993

The outer membrane proteins of 17 Vibrio vulnificus biotype 2 strains from Japanese and European eels, and 12 biotype 1 strains from clinical and environmental sources have been compared. The overall profile in both biotypes was similar, and a major protein band of molecular mass 36 kDa was detected in the majority of the strains. Differences in the minor bands allowed differentiation of strains from different origins, suggesting that outer membrane protein profiles could be useful as epidemiological markers in the species V. vulnificus. Immunoblotting with antisera to whole cells of selected strains of biotypes 1 and 2 showed a strong antigenic response to outer membrane proteins 66, 60, 4…

AntigenicityAntigens BacterialEelsStrain (chemistry)biologyMolecular massBlotting WesternVibrio vulnificusbiology.organism_classificationMicrobiologyMicrobiologyBacterial Typing TechniquesMolecular WeightMembrane proteinSpecies SpecificityVibrionaceaeGeneticsAnimalsElectrophoresis Polyacrylamide GelBacterial outer membraneMolecular BiologyBacteriaBacterial Outer Membrane ProteinsVibrioFEMS microbiology letters
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Separation of T-cell-stimulating activity from streptococcal M protein

1992

The superantigenic properties of M protein type 5 of Streptococcus pyogenes have been implicated as an important pathogenicity factor in streptococcal autoimmune diseases. Here we show that after a single purification step by affinity chromatography on immobilized albumin or fibrinogen, M protein has no mitogenic activity for T cells. We demonstrate that the superantigenicity of M proteins of type 5 and type 1 is due to contamination with the highly potent pyrogenic exotoxins of S. pyogenes in the range of 0.1 to 0.01%. These results raise a general caveat for work with these extremely active T-cell mitogens, because the mitogenicity of other streptococcal or staphylococcal proteins could b…

AntigenicityMyeloma proteinT-LymphocytesT cellImmunologyExotoxinschemical and pharmacologic phenomenaBiologyLymphocyte Activationmedicine.disease_causeMicrobiologyMicrobiologyBacterial ProteinsAffinity chromatographymedicineSuperantigenHumansAntigens BacterialMembrane Proteinshemic and immune systemsInfectious Diseasesmedicine.anatomical_structureMembrane proteinStreptococcus pyogenesParasitologyMitogensCarrier ProteinsExotoxinBacterial Outer Membrane ProteinsResearch ArticleInfection and Immunity
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