Search results for "Test"

showing 10 items of 19001 documents

Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitab…

2019

Shank3, a postsynaptic scaffolding protein involved in regulating excitatory synapse assembly and function, has been implicated in several brain disorders, including autism spectrum disorders (ASD), Phelan-McDermid syndrome, schizophrenia, intellectual disability, and mania. Here we generated and characterized a Shank3 knock-in mouse line carrying the Q321R mutation (Shank3Q321R mice) identified in a human individual with ASD that affects the ankyrin repeat region (ARR) domain of the Shank3 protein. Homozygous Shank3Q321R/Q321R mice show a selective decrease in the level of Shank3a, an ARR-containing protein variant, but not other variants. CA1 pyramidal neurons in the Shank3Q321R/Q321R hip…

0301 basic medicineHippocampusautism spectrum disorderBiologyNeurotransmissionElectroencephalographyInhibitory postsynaptic potentiallcsh:RC321-57103 medical and health sciencesCellular and Molecular NeuroscienceExcitatory synapse assembly0302 clinical medicinePostsynaptic potentialexcitabilitymedicineself-groomingEEGMolecular Biologylcsh:Neurosciences. Biological psychiatry. Neuropsychiatrypatient mutationsOriginal Researchmedicine.diagnostic_testanxiety-like behaviorseizure susceptibilitymedicine.disease030104 developmental biologyShank3SchizophreniaExcitatory postsynaptic potentialNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in Molecular Neuroscience
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Can the transverse foramen/vertebral artery ratio of double transverse foramen subjects be a risk for vertebrobasilar transient ischemic attacks?

2018

The C6 is the cervical vertebra into which the vertebral artery enters the passage of the transverse foramen and it is the vertebra most affected by double transverse foramina. There is currently little information about the relation between the vertebral artery and the double transverse foramen in C6. We aimed to test whether subjects with a double transverse foramen in C6 have a reduced transverse foramen/vertebral artery ratio when compared with normal anatomy subjects who possess a single transverse foramen which may be a risk for transient vertebral artery stenosis. We measured the area of the transverse foramen and the vertebral artery in 27 double transverse and 56 normal anatomy sub…

0301 basic medicineHistologyVertebral artery03 medical and health sciences0302 clinical medicinestomatognathic systemmedicine.arterymedicineForamenVertebrobasilar insufficiencyMolecular BiologyEcology Evolution Behavior and SystematicsComputed tomography angiographymedicine.diagnostic_testNormal anatomybusiness.industryCell BiologyAnatomyOriginal Articlesmedicine.diseasemusculoskeletal systemVertebraTransverse planemedicine.anatomical_structure030101 anatomy & morphologyAnatomybusiness030217 neurology & neurosurgeryDevelopmental BiologyCervical vertebraeJournal of anatomy
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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatri…

2017

Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient. This review su…

0301 basic medicineHistoryMedizinGene Expression0302 clinical medicineNeoplasm Proteins/geneticsNeoplasmsChildGenetics (clinical)Societies Medicalddc:618HematologyJuvenile myelomonocytic leukemiaCancer predispositionSyndromeFocus Groups21st Century3. Good healthNeoplasm Proteins030220 oncology & carcinogenesisHematologic NeoplasmsGenetic Testing/methodsmedicine.medical_specialtyAdolescentGenetics MedicalGenetic CounselingHistory 21st CenturyMedical/history/instrumentation/methodsFamilial adenomatous polyposis03 medical and health sciencesInternal medicineGeneticsmedicineHumansFocus Groups/methodsGenetic Predisposition to DiseaseGenetic TestingIntensive care medicineGenetic Counseling/ethicsbusiness.industryHematologic Neoplasms/diagnosis/genetics/pathologyCancermedicine.diseasePediatric cancerHuman genetics030104 developmental biologyLi–Fraumeni syndromeNeoplasms/diagnosis/genetics/pathologyMutationMedical/historySocietiesbusinessAmerican journal of medical genetics. Part A
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Effect of Food Thermal Processing on the Composition of the Gut Microbiota.

2018

Cooking modifies food composition due to chemical reactions. Additionally, food composition shapes the human gut microbiota. Thus, the objective of this research was to unravel the effect of different food cooking methods on the structure and functionality of the gut microbiota. Common culinary techniques were applied to five foods, which were submitted to in vitro digestion-fermentation. Furosine, 5-(hydroxymethyl)furfural, and furfural were used as Maillard reaction indicators to control the heat treatment. Short-chain fatty acids production was quantified as indicator of healthy metabolic output. Gut microbial community structure was analyzed through 16S rRNA. Both food composition and c…

0301 basic medicineHot TemperatureMeatGut flora03 medical and health sciencessymbols.namesakeRNA Ribosomal 16SVegetablesHumansFuraldehydeFood scienceCookingRoastingBifidobacterium030109 nutrition & dieteticsbiologyBacteriabusiness.industryChemistryRuminococcusLysinedigestive oral and skin physiologyfood and beveragesFood composition dataFabaceaeGeneral Chemistrybiology.organism_classificationFatty Acids VolatileGastrointestinal MicrobiomeMaillard ReactionMaillard reaction030104 developmental biologyFruitFermentationsymbolsFood processingComposition (visual arts)General Agricultural and Biological SciencesbusinessEdible GrainJournal of agricultural and food chemistry
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Molecular docking-based virtual drug screening revealing an oxofluorenyl benzamide and a bromonaphthalene sulfonamido hydroxybenzoic acid as HDAC6 in…

2020

HDAC6 is a crucial epigenetic modifier that plays a vital role in tumor progression and carcinogenesis due to its multiple biological functions. It is a unique member of class-II HDAC enzymes. It possesses two catalytic domains, which function independently of the overall enzyme activity. Up to date, there are only a few selective HDAC6 inhibitors with anti-cancer activity. In this study, 175,204 ligands obtained from the ZINC15 and OTAVAchemical databases were used for virtual drug screening against HDAC6. Molecular docking studies were performed for 100 selected compounds. Furthermore, the top 10 compounds obtained from docking were tested for their efficacy to inhibit the function of HDA…

0301 basic medicineHydroxybenzoic acidMicroscale thermophoresisDrug developmentApoptosisRM1-950NaphthalenesVirtual drug screeningHistone Deacetylase 6Flow cytometry03 medical and health scienceschemistry.chemical_compoundStructure-Activity Relationship0302 clinical medicineCell Line TumorDrug DiscoverymedicineHydroxybenzoatesHumansBenzamideCytotoxicityBenzoic acidCancerPharmacologychemistry.chemical_classificationLeukemiamedicine.diagnostic_testDose-Response Relationship DrugMolecular StructureChemistryMicroscale thermophoresisGeneral MedicineHDAC6Drug Resistance MultipleHistone Deacetylase InhibitorsMolecular Docking Simulation030104 developmental biologyEnzymeBiochemistryDocking (molecular)Drug Resistance Neoplasm030220 oncology & carcinogenesisBenzamidesEpigeneticsTherapeutics. PharmacologyDatabases ChemicalBiomedicinepharmacotherapy = Biomedecinepharmacotherapie
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Influence of gut microbiota on neuropsychiatric disorders

2017

The last decade has witnessed a growing appreciation of the fundamental role played by an early assembly of a diverse and balanced gut microbiota and its subsequent maintenance for future health of the host. Gut microbiota is currently viewed as a key regulator of a fluent bidirectional dialogue between the gut and the brain (gut-brain axis). A number of preclinical studies have suggested that the microbiota and its genome (microbiome) may play a key role in neurodevelopmental and neurodegenerative disorders. Furthermore, alterations in the gut microbiota composition in humans have also been linked to a variety of neuropsychiatric conditions, including depression, autism and Parkinson’s dis…

0301 basic medicineHypothalamo-Hypophyseal SystemGut–brain axisPituitary-Adrenal SystemDiseaseGut floraBioinformaticsdigestive systemEpigenesis Genetic03 medical and health sciences0302 clinical medicinemedicineAnimalsHumansBrain-gut axisMicrobiomePsychiatric conditionsbiologyMicrobiotaGastrointestinal MicrobiomeGastroenterologyBrainNeurodegenerative DiseasesMinireviewsGeneral MedicineDNA MethylationFecal Microbiota TransplantationMental illnessmedicine.diseasebiology.organism_classificationGastrointestinal MicrobiomeTransplantationDisease Models Animal030104 developmental biologyNeurodevelopmental DisordersDysbiosisMental healthMicrobiomeDysbiosisStress Psychological030217 neurology & neurosurgeryWorld Journal of Gastroenterology
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Enhanced Antibacterial Activity of Repurposed Mitomycin C and Imipenem in Combination with the Lytic Phage vB_KpnM-VAC13 against Clinical Isolates of…

2021

Study Group on Mechanisms of Action and Resistance to Antimicrobials (GEMARA) on behalf of the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC).

0301 basic medicineImipenemKlebsiella pneumoniaemedicine.drug_classMitomycin030106 microbiologyAntibioticsResistanceDrug repurposingMicrobial Sensitivity TestsBacteriophage therapybeta-LactamasesMicrobiologyPersistence03 medical and health sciencesMechanisms of Resistancemedicinepolycyclic compoundsHumansPharmacology (medical)BacteriophagesPathogenhealth care economics and organizationsPharmacologybiologyMitomycin CBroth microdilutionbiochemical phenomena metabolism and nutritionbiology.organism_classificationAntimicrobialhumanitiesAnti-Bacterial AgentsKlebsiella InfectionsSynergyImipenemKlebsiella pneumoniae030104 developmental biologyInfectious DiseasesLytic cyclemedicine.drugAntimicrobial agents and chemotherapy
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Clr-a: A Novel Immune-Related C-Type Lectin-like Molecule Exclusively Expressed by Mouse Gut Epithelium

2017

Abstract The mouse gut epithelium represents a constitutively challenged environment keeping intestinal commensal microbiota at bay and defending against invading enteric pathogens. The complex immunoregulatory network of the epithelial barrier surveillance also involves NK gene complex (NKC)–encoded C-type lectin-like molecules such as NKG2D and Nkrp1 receptors. To our knowledge, in this study, we report the first characterization of the orphan C-type lectin-like molecule Clr-a encoded by the Clec2e gene in the mouse NKC. Screening of a panel of mouse tissues revealed that Clec2e transcripts are restricted to the gastrointestinal tract. Using Clr-a–specific mAb, we characterize Clr-a as a …

0301 basic medicineImmunoblottingImmunologyCryptFluorescent Antibody TechniqueCell SeparationBiologyMice03 medical and health sciences0302 clinical medicineDownregulation and upregulationC-type lectinAnimalsImmunology and AllergyLectins C-TypeIntestinal MucosaReceptorMice Inbred BALB CReverse Transcriptase Polymerase Chain ReactionFlow CytometryNKG2DIntestinal epitheliumMolecular biologyGut EpitheliumMice Inbred C57BLImmunosurveillance030104 developmental biology030215 immunologyThe Journal of Immunology
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Donor interleukin-22 and host type I interferon signaling pathway participate in intestinal graft-versus-host disease via STAT1 activation and CXCL10.

2014

Acute graft-versus-host disease (aGVHD) remains a major complication following allogeneic hematopoietic cell transplantation, limiting the success of this therapy. We previously reported that interleukin-22 (IL-22) participates to aGVHD development, but the underlying mechanisms of its contribution remain poorly understood. In this study, we analyzed the mechanism of the pathological function of IL-22 in intestinal aGVHD. Ex-vivo colon culture experiments indicated that IL-22 was able to induce Th1-like inflammation via signal transducer and activator of transcription factor-1 (STAT1) and CXCL10 induction in the presence of type I interferon (IFN). To evaluate a potential synergy between IL…

0301 basic medicineImmunologyGraft vs Host DiseaseInflammationReceptor Interferon alpha-betaInterleukin 2203 medical and health sciencesMiceInterferonimmune system diseasesBone MarrowmedicineImmunology and AllergyCXCL10AnimalsTransplantation HomologousHumansSTAT1Intestine LargeIntestinal MucosaBone Marrow TransplantationMice KnockoutMice Inbred BALB CbiologyInterleukinsTh1 CellsTissue DonorsTransplantationMice Inbred C57BLChemokine CXCL10030104 developmental biologymedicine.anatomical_structuresurgical procedures operativeSTAT1 Transcription FactorGene Expression RegulationHematologic NeoplasmsImmunologyInterferon Type Ibiology.proteinSTAT proteinBone marrowmedicine.symptomWhole-Body Irradiationmedicine.drugSignal Transduction
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Autoimmune diseases and 8.1 ancestral haplotype: an update

2018

The aim of the present review is to provide an update of the current research into the pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype. This is a common Caucasoid haplotype carried by most people who type for HLA-B8, DR3. Numerous genetic studies reported that individuals with certain HLA alleles have a higher risk of specific autoimmune disorders than those without these alleles. However, much remains to be learned about the heritability of autoimmune conditions. Recently, progress and advances in the field of genome-wide-association studies have revolutionized the capacity to perform large, economically feasible, and statistically robust analyses of HLA within …

0301 basic medicineImmunologyHuman leukocyte antigenBiology8.1 ancestral haplotype03 medical and health sciences0302 clinical medicineHLA-DRB1 geneGeneticsHumansImmunology and Allergyautoimmune diseasesAlleleGeneGeneticsSettore MED/04 - Patologia GeneraleHaplotypeAutoantibodyHeritabilityautoantibodiePhenotypeGastrointestinal Microbiome030104 developmental biologyHaplotypes030211 gastroenterology & hepatologyHLA allele
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