Search results for "Isoform"

showing 10 items of 350 documents

Nitric Oxide/Cyclic Guanosine Monophosphate Signaling via Guanylyl Cyclase Isoform 1 Mediates Early Changes in Synaptic Transmission and Brain Edema …

2021

Traumatic brain injury (TBI) often induces structural damage, disruption of the blood-brain barrier (BBB), neurodegeneration, and dysfunctions of surviving neuronal networks. Nitric oxide (NO) signaling has been suggested to affect brain functions after TBI. The NO exhibits most of its biological effects by activation of the primary targets-guanylyl cyclases (NO-GCs), which exists in two isoforms (NO-GC1 and NO-GC2), and the subsequently produced cyclic guanosine monophosphate (cGMP). However, the specific function of the NO-NO-GCs-cGMP pathway in the context of brain injury is not fully understood. To investigate the specific role of the isoform NO-GC1 early after brain injuries, we perfor…

Gene isoform030506 rehabilitationTraumatic brain injuryBrain EdemaReceptors Cell SurfaceNeurotransmissionBlood–brain barrierNitric OxideSynaptic TransmissionNitric oxide03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineBrain Injuries TraumaticmedicinePremovement neuronal activityAnimalsCyclic guanosine monophosphateCyclic GMPMice KnockoutNeurodegenerationSomatosensory Cortexmedicine.diseaseIsoenzymesmedicine.anatomical_structurenervous systemchemistryGuanylate CyclaseNeurology (clinical)0305 other medical scienceNeuroscience030217 neurology & neurosurgerySignal TransductionJournal of neurotrauma
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Functional analysis of the isoforms of an ABI3-like factor of Pisum sativum generated by alternative splicing

2009

At least seven isoforms (PsABI3-1 to PsABI3-7) of a putative, pea ABI3-like factor, originated by alternative splicing, have been identified after cDNA cloning. A similar variability had previously only been described for monocot genes. The full-length isoform, PsABI3-1, contains the typical N-terminal acidic domains and C-terminal basic subdomains, B1 to B3. Reverse transcriptase-PCR analysis revealed that the gene is expressed just in seeds, starting at middle embryogenesis; no gene products are observed in embryo axes after 18 h post-imbibition although they are more persistent in cotyledons. The activity of the isoforms was studied by yeast one-hybrid assays. When yeast was transformed …

Gene isoformABI3PhysiologyABI5Molecular Sequence DataPlant ScienceBiologyAbscisic acidComplementary DNAGene expressionProtein IsoformsArabidopsis thalianaAmino Acid SequenceCloning MolecularGenePlant ProteinsBase SequenceAlternative splicingisoformsPeasfood and beveragesDNA-binding domainbiology.organism_classificationResearch PapersAlternative SplicingProtein TransportABABiochemistryRNA splicingProtein BindingJournal of Experimental Botany
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Homologies Between Different Forms of 2-5A Synthetases

1994

(2′-5′) Oligoadenylate synthetases (2-5A synthetases; EC 2.7.7.19) are present in mammalian cells and tissues and synthesize from ATP a series of oligomers termed 2-5A [general formula: ppp(A2′p)nA; with 1 ≤ n < 18 and usually 1 ≤ n < 6] (Hovanessian 1991). For full enzymic activity of the 2-5A synthetases, binding of double-stranded RNA is required (Sen 1982). Three principal 2-5A synthetase isoenzymes have been described with Mr’s of 40–46, 69, and 100 kDa (Chebath et al. 1987; Hovanessian et al. 1987, 1988). In the following they are classified as 2-5A synthetase I [Mr 40–46 000], II [Mr 69 000] and III [Mr 100 000]. All three isoforms are induced in cells by interferon (Cohen et al. 198…

Gene isoformActivator (genetics)EndoribonucleaseMicrosomePhosphodiesteraseRNABinding siteBiologyIsozymeMolecular biology
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New perspectives on the renal slit diaphragm protein podocin.

2011

Podocin is a critical component of the glomerular filtration barrier, its mutations causing recessive steroid-resistant nephrotic syndrome. A GenBank analysis of the human podocin (NPHS2) gene resulted in the possible existence of a new splice variant of podocin in the kidney, missing the in-frame of exon 5, encoding the prohibitin homology domain. Using RT–polymerase chain reaction and immunoblotting followed by sequence analysis, we are for the first time able to prove the expression of a novel podocin isoform (isoform 2), exclusively and constitutively expressed in human podocytes. Furthermore, we reveal singular extrarenal podocin expression in human and murine testis. Our data show the…

Gene isoformAdultMalePathologymedicine.medical_specialtyendocrine systemkidneySertoli cellsBlotting WesternImmunoblottingMolecular Sequence Datatestisurologic and male genital diseasesReal-Time Polymerase Chain ReactionFilamentous actinPathology and Forensic MedicineSertoli cell-only syndromeMiceYoung AdultmedicineAnimalsHumansProtein IsoformsSertoli cell-only syndromeAmino Acid SequenceProhibitinAgedKidneyMicroscopy ConfocalbiologyBase Sequenceurogenital systemPodocytesGene Expression ProfilingIntracellular Signaling Peptides and ProteinsMembrane ProteinsisoformMiddle Agedmedicine.diseaseSertoli cellfemale genital diseases and pregnancy complicationsWT-1medicine.anatomical_structureSlit diaphragmPodocinbiology.proteinOriginal ArticlepodocinModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
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Alternatively spliced transcripts of the thymus-specific protease PRSS16 are differentially expressed in human thymus.

2004

The putative serine protease PRSS16 is abundantly expressed in the thymic cortex and the gene is encoded within the HLA I complex. Although its function is not yet defined, the very restricted expression points to a role in T-cell development in the thymus. In this study, we show that the PRSS16 mRNA is alternatively spliced to generate at least five transcripts. Apart from the full-length sequence, we found two other isoforms with all putative active site residues of the serine protease, suggesting that those variants may also be functional. Semi-quantitative analysis of the splice variants in different tissue samples revealed a strong correlation between the specific formation of alternat…

Gene isoformAdultMaleThymomamedicine.medical_treatmentImmunologyMolecular Sequence DataMorphogenesisThymus GlandGene Expression Regulation EnzymologicMyasthenia GravisGeneticsmedicineMorphogenesisHumansGeneGenetics (clinical)Serine proteaseMessenger RNAProteasebiologyBase SequenceSerine EndopeptidasesMiddle Agedmedicine.diseaseMolecular biologyMyasthenia gravisIsoenzymesAlternative Splicingbiology.proteinFemaleGenes and immunity
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WT1 isoform expression pattern in acute myeloid leukemia.

2013

WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression.

Gene isoformAdultMalecongenital hereditary and neonatal diseases and abnormalitiesCancer ResearchAdolescentCD34HL-60 CellsBiologyurologic and male genital diseasesPositive correlationCohort StudiesYoung AdultDual roleExpression patternhemic and lymphatic diseasesmedicineTumor Cells CulturedHumansProtein IsoformsWT1 ProteinsAgedAged 80 and overurogenital systemGene Expression Regulation LeukemicGene Expression ProfilingMyeloid leukemiaHematologyMiddle Agedmedicine.diseaseMolecular biologyfemale genital diseases and pregnancy complicationsLeukemiaLeukemia Myeloid AcuteOncologyCase-Control StudiesFemaleK562 CellsLeukemia research
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Differential apolipoprotein(a) isoform expression in heterozygosity is an independent contributor to lipoprotein(a) levels variability

2003

Abstract Background and methods : Lipoprotein(a) [Lp(a)] levels represent an independent risk factor for cardio- and cerebrovascular diseases. Since lipoprotein(a) levels show a wide variability even in subjects with similar apolipoprotein(a) isoforms, we investigated the contribution of apolipoprotein(a) heterozygosity to lipoprotein(a) variance. Lipoprotein(a) levels, apolipoprotein(a) isoforms identification and expression, and the correlation with other lipo-apolipoprotein parameters have been investigated in 628 subjects >18 years of age. Results : In our study, 246 subjects were found heterozygous for apolipoprotein(a) isoforms. Lipoprotein(a) levels were higher in females. About 40% …

Gene isoformAdultMalemedicine.medical_specialtyHeterozygoteApolipoprotein BClinical BiochemistryWestern blotApoprotein(a)BiochemistryProtein expressionLoss of heterozygosityWestern blotInternal medicinemedicineHumansProtein IsoformsAgedApolipoprotein(a) phenotypingmedicine.diagnostic_testbiologyMedical screeningBiochemistry (medical)General MedicineLipoprotein(a)Middle AgedEndocrinologyApolipoproteinsbiology.proteinProtein expressionlipids (amino acids peptides and proteins)FemaleLipoproteinLipoprotein(a)
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Induction of pyroptosis in colon cancer cells by LXRβ.

2014

Liver X receptors (LXRs) have been proposed to have some anticancer properties. We recently identified a new non-genomic role of LXRβ in colon cancer cells. Under LXR agonist treatment, LXRβ induces pyroptosis of these cells in vitro and in vivo, raising the possibility of targeting this isoform in cancer treatment.

Gene isoformAgonistCancer ResearchChemistryColorectal cancermedicine.drug_classpyroptosisCaspase 1PyroptosisNLRP3 pannexin 1medicine.diseaseIn vitro3. Good healthCell biologycolon cancerIn vivoCaspase-1medicineMolecular MedicineLXRLiver X receptorAuthor's ViewMolecularcellular oncology
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Endothelin receptor B in trabecular meshwork

2007

Abstract Endothelin-1 (ET-1), the most potent vasoconstrictor known to date, seems to be involved in the pathogenesis of primary open angle glaucoma. ET-1 was found in different tissues of the eye and in high concentrations in the aqueous humour. The effects of ET-1 are mediated by two receptors, ET-A receptor (ET-AR) and ET-B receptor (ET-BR), which are both expressed in bovine trabecular meshwork (TM). ET-1 induced contraction of TM predominantly by activation of ET-AR. This study analyzes the role of ET-BR in TM function and investigates the synthesis of ET-1 by human TM (HTM) cells. The effect of IRL-1620, a specific ET-BR agonist, on contractility of bovine TM (BTM) was investigated wi…

Gene isoformAgonistmedicine.medical_specialtyCarbacholmedicine.drug_classBlotting WesternEndothelin-Converting EnzymesBiologyPolymerase Chain ReactionCellular and Molecular NeuroscienceWestern blotTrabecular MeshworkInternal medicinemedicineAnimalsAspartic Acid EndopeptidasesHumansReceptorCells CulturedEndothelin-1medicine.diagnostic_testReceptors EndothelinAqueous humourEndothelinsMetalloendopeptidasesReceptor Endothelin BMolecular biologyPeptide FragmentsSensory SystemsOphthalmologyEndocrinologymedicine.anatomical_structureCalciumCattlesense organsTrabecular meshworkEndothelin receptormedicine.drugExperimental Eye Research
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Genomic Structure and in Vivo Expression of the Human Organic Anion Transporter 1 (hOAT1) Gene

2000

The human organic anion transporter 1 (hOAT1) plays a key role in the secretion of an array of potentially toxic organic anions including many clinically important drugs. Here we report on the genomic cloning of hOAT1. A human genomic library was used for screening of a PAC (P1 artificial chromosome) clone applying PCR techniques. Sequencing of several restriction subclones and of a PCR-generated clone revealed that the hOAT1 gene spans 8.2 kb and is composed of 10 exons divided by 9 introns. RT-PCR studies in a human kidney specimen led to the detection of two new splice variants, hOAT1-3 and hOAT1-4, showing a 132-bp in-frame deletion. Using fluorescence in situ hybridization (FISH) we ma…

Gene isoformAnion Transport ProteinsMolecular Sequence DataBiophysicsBiologyBiochemistryExonmedicineHumansGenomic libraryPromoter Regions GeneticMolecular BiologyGeneIn Situ Hybridization FluorescenceDNA PrimersGeneticsBase Sequencemedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionChromosomes Human Pair 11Chromosome MappingPromoterDNAExonsCell BiologyTCF4Molecular biologyIntronsDNA binding siteCarrier ProteinsFluorescence in situ hybridizationBiochemical and Biophysical Research Communications
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