Search results for "M.2"

showing 10 items of 1095 documents

Enhanced autophagic-lysosomal activity and increased BAG3-mediated selective macroautophagy as adaptive response of neuronal cells to chronic oxidati…

2019

Oxidative stress and a disturbed cellular protein homeostasis (proteostasis) belong to the most important hallmarks of aging and of neurodegenerative disorders. The proteasomal and autophagic-lysosomal degradation pathways are key measures to maintain proteostasis. Here, we report that hippocampal cells selected for full adaptation and resistance to oxidative stress induced by hydrogen peroxide (oxidative stress-resistant cells, OxSR cells) showed a massive increase in the expression of components of the cellular autophagic-lysosomal network and a significantly higher overall autophagic activity. A comparative expression analysis revealed that distinct key regulators of autophagy are upregu…

0301 basic medicineClinical BiochemistryLFQ Label-free quantificationLETM Leucine zipper and EF-hand containing transmembrane proteinmedicine.disease_causeBiochemistryCHX Cycloheximide0302 clinical medicineBNIP3 Bcl-2 interacting protein 3RAPA RapamycinPIK3C3 Class III PI3‐kinasePhosphorylationlcsh:QH301-705.5Neuronslcsh:R5-920PolyUB PolyubiquitinChemistryBAG3OPA1 Optic atrophy 1TOR Serine-Threonine KinasesWIPI1 WD repeat domain phosphoinositide-interacting protein 1ATG Autophagy relatedTFEB Transcription factor EBCell biologyMitochondriasiRNA Small interfering RNADLP1 Dynamin-like protein 1LAMP1 Lysosomal‐associated membrane protein 1PURO Puromycinlcsh:Medicine (General)Protein homeostasisResearch PaperBafA1 Bafilomycin A1LAMP2 Lysosomal‐associated membrane protein 2Proteasome Endopeptidase ComplexRAB18 Member RAS oncogeneTUB TubulinLC3 Light chain 3 proteinOxidative phosphorylationBAG3CTSD Cathepsin DModels BiologicalCell Line03 medical and health sciencesDownregulation and upregulationMacroautophagymedicineAutophagyHumansAdaptationBAG1 Bcl-2-associated athanogene 1BECN1 Beclin1PI3K/AKT/mTOR pathwayAdaptor Proteins Signal TransducingTEM Transmission electron microscopyHsp70 Heat shock protein 70Organic ChemistryAutophagyAutophagosomesmTOR Mammalian target of rapamycinHsp70Oxidative Stress030104 developmental biologyProteostasislcsh:Biology (General)CV CanavanineBAG3 Bcl-2-associated athanogene 3MTT (3-(45-Dimethylthiazol-2-yl)-25-Diphenyltetrazolium Bromide)Apoptosis Regulatory ProteinsLysosomes030217 neurology & neurosurgeryOxidative stressRedox Biology
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Human milk and mucosa-associated disaccharides impact on cultured infant fecal microbiota

2020

Human milk oligosaccharides (HMOs) are a mixture of structurally diverse carbohydrates that contribute to shape a healthy gut microbiota composition. The great diversity of the HMOs structures does not allow the attribution of specific prebiotic characteristics to single milk oligosaccharides. We analyze here the utilization of four disaccharides, lacto-N-biose (LNB), galacto-N-biose (GNB), fucosyl-α1,3-GlcNAc (3FN) and fucosyl-α1,6-GlcNAc (6FN), that form part of HMOs and glycoprotein structures, by the infant fecal microbiota. LNB significantly increased the total levels of bifidobacteria and the species Bifidobacterium breve and Bifidobacterium bifidum. The Lactobacillus genus levels wer…

0301 basic medicineFormatesMolecular biologymedicine.medical_treatmentved/biology.organism_classification_rank.specieslcsh:MedicineMicrobiologiaGut floraAcetatesBifidobacterium breveDisaccharidesFecesfluids and secretionsFucosyl-α13-GlcNAcLactobacillusFood sciencelcsh:ScienceBifidobacterium2. Zero hungerClostridialesMultidisciplinaryBifidobacterium brevebiologyHuman milk oligosaccharidesfood and beveragesFucosyl-α16-GlcNAcEnterobacteriaceae3. Good healthDNA Bacterial030106 microbiologyGut microbiotaDisaccharidasesMicrobiologydigestive systemArticleAcetylglucosamine03 medical and health sciencesEnterobacteriaceaemedicineHumansLactic AcidGalacto-N-bioseBifidobacterium bifidumMilk Humanved/biologyPrebioticlcsh:RInfantbiology.organism_classificationLactobacilsGastrointestinal MicrobiomeLactobacillus030104 developmental biologyPrebioticslcsh:QFermentationBifidobacterium bifidumLacto-N-biose
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Excessive daytime sleepiness is associated with an increased frequency of falls and sarcopenia.

2021

Background:\ud \ud This cross-sectional study aimed to examine associations between excessive daytime sleepiness (EDS) with falls and falls related conditions in older adults.\ud \ud Methods:\ud \ud To assess EDS, the Epworth Sleepiness Scale was used, with a score of ≥11/24 points indicating EDS. Number of falls and fall history (at least one) in the last year were recorded. Timed Up and Go test (TUG) was used to assess fall risk. Sarcopenia was defined by SARC-F tool. A grip strength score of the dominant hand, measured with a hand-grip dynamometer, less than 16 kg in females and 27 kg in males was accepted as dynapenia. Frailty status was defined by five dimensions including shrinking, e…

0301 basic medicineGerontologyMaleAgingSarcopeniaExcessive daytime sleepinessTimed Up and Go testDisorders of Excessive SomnolenceBiochemistry03 medical and health sciencesGrip strength0302 clinical medicineEndocrinologyGeneticsmedicineHumansMolecular BiologyGeriatric AssessmentPostural BalanceDepression (differential diagnoses)AgedPolypharmacyAged 80 and overbusiness.industryEpworth Sleepiness ScaleCell Biologymedicine.disease030104 developmental biologyCross-Sectional StudiesSarcopeniaDynapenia Excessive daytime sleepiness FallsFrailty SarcopeniaTime and Motion StudiesSoysal P. Smith L. Tan S. G. Capar E. Veronese N. Yang L. -Excessive daytime sleepiness is associated with an increased frequency of falls and sarcopenia.- Experimental gerontology ss.111364 2021Soysal P. Smith L. Tan S. G. Capar E. Veronese N. Yang L. -Excessive daytime sleepiness is associated with an increased frequency of falls and sarcopenia- 17 th EuGMS Athens Yunanistan 11 - 13 Ekim 2021 ss.3-4Marital statusAccidental FallsFemalemedicine.symptombusinesshuman activities030217 neurology & neurosurgeryExperimental gerontology
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Surface Micro Discharge–Cold Atmospheric Pressure Plasma Processing of Common House Cricket Acheta domesticus Powder: Antimicrobial Potential and Lip…

2021

The growing world population and the need to reduce the environmental impact of food production drive the exploration of novel protein sources. Insects are being cultivated, harvested, and processed to be applied in animal and human nutrition. The inherent microbial contamination of insect matrices requires risk management and decontamination strategies. Thermal sterilization results in unfavorable cooking effects and oxidation of fatty acids. The present study demonstrates the risk management in Acheta domesticus (home cricket) powder with a low-energy (8.7–22.0 mW/cm2, 5 min) semi-direct surface micro discharge (SMD)–cold atmospheric pressure plasma (CAPP). At a plasma power density lower…

0301 basic medicineHistologyAcheta domesticusBiomedical EngineeringBacillus cereusinsect powderBioengineeringAtmospheric-pressure plasmaBacillus subtilisMass spectrometrycold plasmaMicrobial decontaminationFood safetylipids03 medical and health sciences0404 agricultural biotechnologyHouse cricketFood scienceBacillus megaterium2. Zero hunger030109 nutrition & dieteticsbiologyChemistryfungimicrobial decontamination04 agricultural and veterinary sciencesSterilization (microbiology)biology.organism_classificationNon-thermal processing040401 food scienceLipids3. Good healthfood safety13. Climate actionAchetaCold plasmaInsect powderTP248.13-248.65BiotechnologyFrontiers in Bioengineering and Biotechnology
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

2018

International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 fami…

0301 basic medicineHypertrichosisMalePediatrics[SDV]Life Sciences [q-bio]MESH: Magnetic Resonance ImagingPathognomonicMESH: ChildIntellectual disabilityMESH: SyndromeChildMESH: High-Throughput Nucleotide SequencingGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSbiologyWiedemann-Steiner syndromeHigh-Throughput Nucleotide SequencingSyndromeKMT2AMESH: Amino Acid SubstitutionMagnetic Resonance Imaginghypertrichosis3. Good healthhairinessKMT2APhenotypeWiedemann-Steiner syndromeChild Preschoolcardiovascular systemFemaleDisease SusceptibilityFrancemedicine.symptomMESH: Tomography X-Ray ComputedMyeloid-Lymphoid Leukemia Proteinmedicine.medical_specialtyMESH: MutationAdolescentMESH: Disease SusceptibilityMESH: PhenotypeShort statureMESH: Intellectual Disability03 medical and health sciencesHypertrichosis cubitiIntellectual DisabilityGeneticsmedicineHumanshistone methylationMESH: Adolescent[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: Humansbusiness.industryMESH: Child PreschoolMESH: Histone-Lysine N-MethyltransferaseHistone-Lysine N-Methyltransferasemedicine.diseaseMESH: MaleMESH: France030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAmino Acid SubstitutionMESH: Myeloid-Lymphoid Leukemia ProteinMutationbiology.proteinbusinessTomography X-Ray ComputedMESH: FemaleClinical genetics
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Lactobacilli Degrade Wheat Amylase Trypsin Inhibitors to Reduce Intestinal Dysfunction Induced by Immunogenic Wheat Proteins.

2019

Background & Aims Wheat-related disorders, a spectrum of conditions induced by the ingestion of gluten-containing cereals, have been increasing in prevalence. Patients with celiac disease have gluten-specific immune responses, but the contribution of non-gluten proteins to symptoms in patients with celiac disease or other wheat-related disorders is controversial. Methods C57BL/6 (control), Myd88–/–, Ticam1–/–, and Il15–/– mice were placed on diets that lacked wheat or gluten, with or without wheat amylase trypsin inhibitors (ATIs), for 1 week. Small intestine tissues were collected and intestinal intraepithelial lymphocytes (IELs) were measured; we also investigated gut permeability and int…

0301 basic medicineInflammationdigestive systemSensitivity and SpecificityGliadin03 medical and health sciencesDiet Gluten-FreeMiceRandom Allocation0302 clinical medicineImmune systemReference ValuesLactobacillusmedicineAnimalsHumansAmylaseTriticum2. Zero hungerchemistry.chemical_classificationToll-like receptorHepatologybiologybusiness.industryGastroenterologynutritional and metabolic diseasesbiology.organism_classificationGlutendigestive system diseasesSmall intestineImmunity Innate3. Good healthGastrointestinal MicrobiomeMice Inbred C57BLCeliac DiseaseDisease Models AnimalLactobacillus030104 developmental biologymedicine.anatomical_structurechemistryImmunologyAmylasesbiology.proteinIntraepithelial lymphocyte030211 gastroenterology & hepatologymedicine.symptombusinessTrypsin InhibitorsGastroenterology
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MDA-MB-231 and 8701BC breast cancer lines promote the migration and invasiveness of ECV304 cells on 2D and 3D type-I collagen matrix

2017

Tumor angiogenesis is a multiphasic process, having the extracellular matrix remodeling as critical step. Different classes of proteolytic enzymes in matrix digestion/remodeling are involved. The role of lytic enzymes and their activation mode have not been completely elucidated. Herein, the crosstalk between endothelia and tumor cells, by realization of bi- and three-dimensional endothelial and breast cancer cells co-cultures, were studied in vitro. Particularly, the effects of two tumor conditioned media (TCM) were assessed about endothelial proliferation, migration, and invasiveness. An increase in expression of pro-MMP9 was detected when endothelial cells were cultured in the presence o…

0301 basic medicineMMP2Proteolytic enzymesCell migrationCell BiologyGeneral MedicineMatrix metalloproteinaseBiologyMMP7Extracellular matrix03 medical and health sciencesVascular endothelial growth factor A030104 developmental biology0302 clinical medicine030220 oncology & carcinogenesisImmunologyCancer researchMMP14Cell Biology International
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3d collagen hydrogel promotes in vitro langerhans islets vascularization through ad-mvfs angiogenic activity

2021

Adipose derived microvascular fragments (ad-MVFs) consist of effective vascularization units able to reassemble into efficient microvascular networks. Because of their content in stem cells and related angiogenic activity, ad-MVFs represent an interesting tool for applications in regenerative medicine. Here we show that gentle dissociation of rat adipose tissue provides a mixture of ad-MVFs with a length distribution ranging from 33–955 μm that are able to maintain their original morphology. The isolated units of ad-MVFs that resulted were able to activate transcriptional switching toward angiogenesis, forming tubes, branches, and entire capillary networks when cultured in 3D collagen type-…

0301 basic medicineMMP2QH301-705.5Angiogenesis0206 medical engineeringMedicine (miscellaneous)Adipose tissue3D coculture02 engineering and technologyRegenerative medicineGeneral Biochemistry Genetics and Molecular BiologyArticleExtracellular matrix03 medical and health sciencesmedicineBiology (General)Islet of LangerhansTransplantationChemistry020601 biomedical engineeringCell biologyTransplantationMicrovascular fragments030104 developmental biologymedicine.anatomical_structureBasal laminaAngiogenesisStem cell3D coculture; Angiogenesis; Islet of Langerhans; Microvascular fragments; Transplantation
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

2017

IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI…

0301 basic medicineMaleAdolescentVisual impairmentDNA Mutational AnalysisIntelligenceneuropsychologyDisease[SDV.GEN] Life Sciences [q-bio]/GeneticsNeuropsychological Testsgenotype-phenotype correlation03 medical and health sciencesIntensive careIntellectual disabilityGene OrderGeneticsmedicineHumansAbnormalities MultipleChildKMT2D mutationGenetics (clinical)AllelesGenetic Association Studies[SDV.GEN]Life Sciences [q-bio]/GeneticsKabuki syndromebusiness.industryWorking memoryNeuropsychologyWechsler Adult Intelligence Scalemedicine.diseaseHematologic Diseases3. Good healthNeoplasm ProteinsDNA-Binding Proteins030104 developmental biologyPhenotypeVestibular DiseasesGenetic LociFaceMutationFemalemedicine.symptombusinessKabuki syndromeClinical psychology
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Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

2021

Abstract Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder including developmental delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial features, caused by mutation in KMT2A gene, which encodes a histone methyltransferase (H3K4) that regulates chromatin-mediated transcription. Different neurodevelopmental phenotypes have been described within the WDSTS spectrum, including a peculiar Autism Spectrum Disorder (ASDs) subtype in some affected individuals. Here, we report a 9-year-old Caucasian male found by next-generation panel sequencing to carry a novel heterozygous de novo KMT2A frameshift variant (NM_001197104.2:c.4433delG; p. Arg1…

0301 basic medicineMaleDevelopmental Disabilities030105 genetics & heredityBiologyFocal cortical dysplasiaPalilaliaFrameshift mutation03 medical and health sciencesHypertrichosis cubitiIntellectual DisabilityGeneticsmedicineHumansChildFrameshift MutationGenetics (clinical)GeneticsCerebral CortexWiedemann-steiner syndrome.Genetic disorderHypertrichosis cubitiGeneral MedicineHistone-Lysine N-MethyltransferaseSyndromeKMT2ACortical dysplasiamedicine.diseasePalilaliaMalformations of Cortical Development030104 developmental biologyKMT2AWiedemann-Steiner syndromeAutism spectrum disorderbiology.proteinmedicine.symptomMyeloid-Lymphoid Leukemia ProteinEuropean journal of medical genetics
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