Search results for "DELE"

showing 10 items of 631 documents

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

2010

We report on a 4-year-old girl with severe developmental delay, absent speech, and chromosome 22q13.3 deletion (Phelan-McDermid syndrome), karyotype 46,XX.ish del(22)(q13.31qter)(ARSA-,N85A-,SHANK3-). At the age of 3 years, she needed an emergency liver transplantation because of fulminant hepatic failure, most likely caused by hyperacute autoimmune hepatitis triggered by a viral infection. This is the second report of a patient with 22q13.3 deletion and fulminant liver failure. By array-CGH we identified in this patient a 5.675 Mb terminal deletion (22q13.31 --> qter; including approximately 55 genes; from NUP50 to RABL2B) and in the previous patient a 1.535 Mb deletion (22q13.32 --> qter;…

Candidate genemedicine.medical_specialtyFulminantmedicine.medical_treatmentChromosomes Human Pair 22Chromosome DisordersAutoimmune hepatitisDiseaseLiver transplantationGastroenterologyFulminant hepatic failureInternal medicineGeneticsmedicineHumansGenetics (clinical)In Situ Hybridization FluorescenceOligonucleotide Array Sequence AnalysisComparative Genomic Hybridizationmedicine.diagnostic_testbusiness.industryKaryotypeSyndromeLiver Failure Acutemedicine.diseaseLiver TransplantationChild PreschoolFemaleChromosome DeletionLiver function testsbusinessAmerican journal of medical genetics. Part A
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Knockout of thep-Coumarate Decarboxylase Gene fromLactobacillus plantarumReveals the Existence of Two Other Inducible Enzymatic Activities Involved i…

2000

ABSTRACTLactobacillus plantarumNC8 contains apdcgene coding forp-coumaric acid decarboxylase activity (PDC). A food grade mutant, designated LPD1, in which the chromosomalpdcgene was replaced with the deletedpdcgene copy, was obtained by a two-step homologous recombination process using an unstable replicative vector. The LPD1 mutant strain remained able to weakly metabolizep-coumaric and ferulic acids into vinyl derivatives or into substituted phenyl propionic acids. We have shown thatL. plantarumhas a second acid phenol decarboxylase enzyme, better induced with ferulic acid than withp-coumaric acid, which also displays inducible acid phenol reductase activity that is mostly active when gl…

Carboxy-lyasesCoumaric AcidsCarboxy-LyasesMutantGenetics and Molecular Biologymacromolecular substancesCoumaric acidApplied Microbiology and BiotechnologyFerulic acidchemistry.chemical_compoundHydroxybenzoatesCloning Molecularchemistry.chemical_classificationEcologybiologyhemic and immune systemsMetabolismPhenolic acidHydrogen-Ion Concentrationbiology.organism_classificationLactobacillusElectroporationEnzymechemistryBiochemistryEnzyme InductionPropionatesOxidoreductasesGene DeletionLactobacillus plantarumFood ScienceBiotechnologyApplied and Environmental Microbiology
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Deleting Full Length Titin Versus the Titin M-Band Region Leads to Differential Mechanosignaling and Cardiac Phenotypes

2019

Background: Titin is a giant elastic protein that spans the half-sarcomere from Z-disk to M-band. It acts as a molecular spring and mechanosensor and has been linked to striated muscle disease. The pathways that govern titin-dependent cardiac growth and contribute to disease are diverse and difficult to dissect. Methods: To study titin deficiency versus dysfunction, the authors generated and compared striated muscle specific knockouts (KOs) with progressive postnatal loss of the complete titin protein by removing exon 2 (E2-KO) or an M-band truncation that eliminates proper sarcomeric integration, but retains all other functional domains (M-band exon 1/2 [M1/2]-KO). The authors evaluated c…

Cardiomyopathy DilatedMaleSarcomeresanimal structuresVentricular Dysfunction Rightmacromolecular substances030204 cardiovascular system & hematologyMechanotransduction CellularVentricular Function LeftArticleMuscle hypertrophyVentricular Dysfunction Left03 medical and health sciences0302 clinical medicinePhysiology (medical)AnimalsMedicineMyocytes CardiacMuscle Skeletal030304 developmental biologyMice Knockout0303 health sciencesbiologybusiness.industryMolecular springmusculoskeletal systemPhenotypeCell biologyMuscular AtrophyPhenotypeMuscle diseasecardiovascular systemVentricular Function Rightbiology.proteinTitinCardiology and Cardiovascular MedicinebusinessProtein KinasesGene DeletionDifferential (mathematics)Circulation
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Termination of transcription in an ‘in vitro’ system is dependent on a polyadenylation sequence

1991

Using HeLa cell nuclear extract as a source of the different transcription and polyadenylation factors and reverse transcription to analyze the levels of RNA 5' and 3' to the cleavage-polyadenylation site, an in vitro assay has been established to study polyadenylation coupled to transcription directed by different adenovirus promoters. The levels of transcription 5' and 3' to the cleavage site in the L3 polyadenylation region are practically the same as described previously, however, the level of transcription 3' to the cleavage site in the SV40 early polyadenylation region decreases immediately after the cleavage site indicating a termination of the transcription.

Cell ExtractsTranscription GeneticPolyadenylationMolecular Sequence DataRNA polymerase IISimian virus 40BiologyCleavage (embryo)AdenoviridaeTranscription (biology)GeneticsRNA MessengerPromoter Regions GeneticBase SequenceRNARNA-Directed DNA PolymerasePromoterMolecular biologyReverse transcriptasebiology.proteinRNA Polymerase IIChromosome DeletionPoly ACytokinesisHeLa CellsPlasmidsNucleic Acids Research
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Cytotoxicity of 4-hydroxy-N-(naphthalen-1-yl)-2-oxo-2H-chromene-3-carboxamide in multidrug-resistant cancer cells through activation of PERK/eIF2α/AT…

2021

After decades of research, multidrug resistance (MDR) remains a huge challenge in cancer treatment. In this study, the cytotoxic of 4-hydroxy-N-(naphthalen-1-yl)-2-oxo-2H-chromene-3-carboxamide (MCC1734) has been investigated towards multidrug-resistant cancer cell lines. MCC1734 exerted cytotoxicity on cell lines expressing different mechanisms of drug resistance (P-glycoprotein, BCRP, ABCB5, EGFR, p53 knockout) to a different extent. Interestingly, sensitive CCRF-CEM cells and multidrug-resistant P-gp-overexpressing CEM/ADR5000 cells represented similar sensitivity towards MCC1734, indicating MCC1734 can bypass P-gp-mediated resistance. Microarray-based mRNA expression revealed that MCC17…

Cell SurvivalEukaryotic Initiation Factor-2Antineoplastic AgentsMitochondrionBiochemistryFlow cytometryeIF-2 KinaseCell Line TumorOxazinesmedicineHumansCytotoxic T cellGene Regulatory NetworksCytotoxicityPharmacologyMolecular Structuremedicine.diagnostic_testChemistryCell cycleActivating Transcription Factor 4Gene Expression Regulation NeoplasticXanthenesDrug Resistance NeoplasmCell cultureApoptosisCancer cellCancer researchGene DeletionBiochemical Pharmacology
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The angiopoietin-Tie2 pathway regulates Purkinje cell dendritic morphogenesis in a cell-autonomous manner.

2021

Neuro-vascular communication is essential to synchronize central nervous system development. Here, we identify angiopoietin/Tie2 as a neuro-vascular signaling axis involved in regulating dendritic morphogenesis of Purkinje cells (PCs). We show that in the developing cerebellum Tie2 expression is not restricted to blood vessels, but it is also present in PCs. Its ligands angiopoietin-1 (Ang1) and angiopoietin-2 (Ang2) are expressed in neural cells and endothelial cells (ECs), respectively. PC-specific deletion of Tie2 results in reduced dendritic arborization, which is recapitulated in neural-specific Ang1-knockout and Ang2 full-knockout mice. Mechanistically, RNA sequencing reveals that Tie…

CerebellumalphaCytoskeleton organizationAngiogenesisPurkinje cellprotocadherinsMorphogenesisneural progenitor cellsMice Transgenicself-avoidanceBiologyModels BiologicalGeneral Biochemistry Genetics and Molecular BiologyAngiopoietinAngiopoietin-2Purkinje Cellsddc:570CerebellumexpressionGene expressionmedicineAngiopoietin-1MorphogenesisAnimalsmouseMice KnockoutIntegrasessubventricular zonedifferentiationDendritesmtorc2Angiopoietin receptorReceptor TIE-2Cell biologyMice Inbred C57BLmedicine.anatomical_structuremessenger-rnaGene Expression RegulationOrgan Specificityembryonic structurescardiovascular systembiology.proteinGene DeletionSignal TransductionCell reports
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Chinese ‘Enormous Hospitality’ Versus Finnish ‘Meeting Among Friends’ : Guest-Host Positioning in China Finland Delegation Visits

2017

The importance of co-operation with China has been growing in Finland lately in view of interest to attract Chinese investments and the increasing importance of China on a global scale. Finland has established governmental agencies to aid Chinese investment and ensured the co-operation of regional and local governments in the framework activities, such as town twinning. An important part of investment facilitation and wider co-operation comprises delegation visits by both interested nations to the other country. These involve enterprise interest matchmaking events, meetings with officials, company visits, etc. Based on interview and observation data, this paper elaborates on how the phenome…

ChinaDelegationbusiness.industrymedia_common.quotation_subjectDeveloping countryPublic relationsInvestment (macroeconomics)Variety (cybernetics)Power (social and political)hostHospitalityScale (social sciences)positioningBusinessvierailutChinaFinlandmedia_commonguestvaltaviestintä
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Down-regulation of early sea urchin histone H2A gene relies on cis regulative sequences located in the 5' and 3' regions and including the enhancer b…

2004

The tandem repeated sea urchin alpha-histone genes are developmentally regulated by gene-specific promoter elements. Coordinate transcription of the five genes begins after meiotic maturation of the oocyte, continues through cleavage, and reaches its maximum at morula stage, after which these genes are shut off and maintained in a silenced state for the life cycle of the animal. Although cis regulative sequences affecting the timing and the level of expression of these genes have been characterized, much less is known about the mechanism of their repression. Here we report the results of a functional analysis that allowed the identification of the sequence elements needed for the silencing …

Chloramphenicol O-Acetyltransferaseanimal structuresEmbryo NonmammalianMicroinjectionsgenomic insulatorDown-RegulationSettore BIO/11 - Biologia MolecolareBiologyRegulatory Sequences Nucleic AcidDNA-binding proteinHistonesStructural BiologyTranscription (biology)Gene expressionHistone H2Atranscriptional repressionGene silencingAnimalsGene SilencingTransgenesEnhancerPromoter Regions GeneticMolecular BiologyGenePsychological repressionhistone geneRepetitive Sequences Nucleic AcidSequence DeletionGeneticsenhancer blockerGastrulaEnhancer Elements GeneticSea Urchinsembryonic structuresProtein BindingJournal of molecular biology
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Folding in vitro of light-harvesting chlorophyll a/b protein is coupled with pigment binding.

2002

The major light-harvesting chlorophyll a/b protein (LHCIIb) of the plant photosynthetic apparatus is able to self-organise in vitro. When the recombinant apoprotein, Lhcb1, is solubilised in the denaturing detergent sodium (or lithium) dodecylsulfate (SDS or LDS) and then mixed with chlorophylls and carotenoids under renaturing conditions, structurally authentic LHCIIb forms. Assembly of functional LHCIIb, as indicated by the establishment of energy transfer between complex-bound chlorophyll molecules, occurs in two apparent kinetic steps with time constants of 10 to 30 seconds and 50 to 300 seconds, depending on the reaction conditions. Here, we use circular dichroism (CD) in the far-UV ra…

Chlorophyll aCircular dichroismProtein FoldingCircular DichroismPigment bindingProtein domainPhotosynthetic Reaction Center Complex ProteinsLight-Harvesting Protein ComplexesPhotochemistryPhotosynthesisProtein Structure SecondaryRecombinant Proteinschemistry.chemical_compoundPigmentchemistryStructural BiologyChlorophyllvisual_artvisual_art.visual_art_mediumMolecular BiologyProtein secondary structureMicellesSequence DeletionJournal of molecular biology
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Measurement of the Md3+/Md2+ Reduction Potential Studied with Flow Electrolytic Chromatography

2013

The reduction behavior of mendelevium (Md) was studied using a flow electrolytic chromatography apparatus. By application of the appropriate potentials on the chromatography column, the more stable Md(3+) is reduced to Md(2+). The reduction potential of the Md(3+) + e(-) → Md(2+) couple was determined to be -0.16 ± 0.05 V versus a normal hydrogen electrode.

ChromatographyStandard hydrogen electrodeFlow (psychology)Analytical chemistrychemistry.chemical_elementElectrolyteIonMendeleviumInorganic ChemistryReduction (complexity)chemistryPhysical and Theoretical ChemistryLuminescenceChromatography columnInorganic Chemistry
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