Search results for "Cyst"

showing 10 items of 1960 documents

Autosomal dominant polycystic kidney disease—in vitro culture of cyst-lining epithelial cells

1992

The major form of autosomal dominant polycystic kidney disease (ADPKD) in humans is linked to the PKD1 gene on chromosome 16p. The identity of the gene and the underlying pathogenetic mechanisms are not yet defined. Cyst-lining epithelial cells derived from a polycystic kidney were successfully grown in culture and designated MZ-PKD-1 cells. By linkage analysis, the related pedigree of the nephrectomized patient could be linked to the PKD1 gene on chromosome 16p. Thus, these cells exhibit the genotype of a mutated PKD1 gene and represent an in vitro culture model for ADPKD involving chromosome 16p. The antigenic phenotype was characterized immunohistologically by epithelial differentiation …

Genetic MarkersPathologymedicine.medical_specialtyAutosomal dominant polycystic kidney diseaseHLA-C AntigensBiologyEpitheliumGenetic linkagemedicineHumansNorthern blotGeneCells CulturedHLA-A AntigensPKD1urogenital systemAntibodies MonoclonalGeneral MedicineMiddle AgedBlotting NorthernPolycystic Kidney Autosomal Dominantmedicine.diseaseImmunohistochemistryMolecular biologyPhenotypePedigreeBlotMicroscopy ElectronPhenotypeHLA-B AntigensCell cultureFemaleChromosomes Human Pair 16Virchows Archiv B Cell Pathology Including Molecular Pathology
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Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?

2020

Gene therapy is an alternative therapy in many respiratory diseases with genetic origin and currently without curative treatment. After five decades of progress, many different vectors and gene editing tools for genetic engineering are now available. However, we are still a long way from achieving a safe and efficient approach to gene therapy application in clinical practice. Here, we review three of the most common rare respiratory conditions—cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), and primary ciliary dyskinesia (PCD)—alongside attempts to develop genetic treatment for these diseases. Since the 1990s, gene augmentation therapy has been applied in multiple clinical tria…

Genetic enhancementalpha-1-antitrypsin deficitprimary ciliary dyskinesialcsh:MedicineReviewrare respiratory diseasesBioinformaticsViral vectorcystic fibrosis03 medical and health sciences0302 clinical medicineGenome editingMedicineGene030304 developmental biologyPrimary ciliary dyskinesia0303 health sciencesTranscription activator-like effector nucleaseEffectorbusiness.industrylcsh:RGeneral Medicinemedicine.diseasegene therapyClinical trial030220 oncology & carcinogenesisbusinessJournal of Clinical Medicine
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Rational Design of a Carrier Protein for the Production of Recombinant Toxic Peptides in Escherichia coli

2016

Commercial uses of bioactive peptides require low cost, effective methods for their production. We developed a new carrier protein for high yield production of recombinant peptides in Escherichia coli very well suited for the production of toxic peptides like antimicrobial peptides. GKY20, a short antimicrobial peptide derived from the C-terminus of human thrombin, was fused to the C-terminus of Onconase, a small ribonuclease (104 amino acids), which efficiently drove the peptide into inclusion bodies with very high expression levels (about 200-250 mg/L). After purification of the fusion protein by immobilized metal ion affinity chromatography, peptide was obtained by chemical cleavage in d…

Genetics and Molecular Biology (all)0301 basic medicineProtein ExpressionCarboxylic Acidslcsh:MedicinePeptideMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)medicine.disease_causeBiochemistrylaw.inventionlawMedicine and Health SciencesAmino Acidslcsh:ScienceAcetic Acidchemistry.chemical_classificationAntimicrobial Cationic PeptideMultidisciplinaryAntimicrobialsOrganic CompoundsHydrolysisMedicine (all)Chemical ReactionsDrugsRecombinant ProteinRecombinant ProteinsAmino acidChemistryBiochemistryPhysical SciencesRecombinant DNAHumanResearch Article030106 microbiologyAntimicrobial peptidesResearch and Analysis MethodsMicrobiologyRibonuclease03 medical and health sciencesResidue (chemistry)RibonucleasesAffinity chromatographyMicrobial ControlGene Expression and Vector TechniquesEscherichia colimedicineSulfur Containing Amino AcidsHumansCysteineMolecular Biology TechniquesMolecular BiologyEscherichia coliPharmacologyMolecular Biology Assays and Analysis TechniquesBiochemistry Genetics and Molecular Biology (all)lcsh:ROrganic ChemistryFormic AcidChemical CompoundsBiology and Life SciencesProteins030104 developmental biologyAgricultural and Biological Sciences (all)chemistrylcsh:QCarrier ProteinPeptidesCarrier ProteinsAcidsAntimicrobial Cationic PeptidesCysteinePLOS ONE
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Effect of the Bovine Oviductal Fluid onIn VitroFertilization, Development and Gene Expression ofIn Vitro-Produced Bovine Blastocysts

2012

Oviductal microenvironment generally provides better condi-tions for early embryo development than the conventionalin vitro system. In an attempt to simulate the oviductconditions or the main potentially influencing factors, theeffect was studied of a bovine oviductal fluid (bOF) treatmentapplied prior to IVF on (i) IVF parameters, (ii) cleavage rate,(iii) blastocyst yield and (iv) blastocyst quality. Embryo qualitywas assessed by morphological embryo quality and relativetranscript abundance of several developmental genes in bovineblastocysts. Furthermore, to study the effect of bOF withoutthe male effect and zona–sperm interaction, artificially acti-vated metaphase II oocytes were also treated w…

Genetics0303 health sciences030219 obstetrics & reproductive medicineIn vitro fertilisationurogenital systemmedicine.medical_treatmentEmbryogenesisEmbryoBiologyOocyteAndrology03 medical and health sciences0302 clinical medicineEndocrinologymedicine.anatomical_structureHuman fertilizationembryonic structuresGene expressionmedicineAnimal Science and ZoologyBlastocystreproductive and urinary physiologyEmbryo quality030304 developmental biologyBiotechnologyReproduction in Domestic Animals
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Facilitating matched pairing and expression of TCR chains introduced into human T cells.

2006

AbstractAdoptive transfer of T lymphocytes is a promising treatment for a variety of malignancies but often not feasible due to difficulties generating T cells that are reactive with the targeted antigen from patients. To facilitate rapid generation of cells for therapy, T cells can be programmed with genes encoding the α and β chains of an antigen-specific T-cell receptor (TCR). However, such exogenous α and β chains can potentially assemble as pairs not only with each other but also with endogenous TCR α and β chains, thereby generating αβTCR pairs of unknown specificity as well as reducing the number of exogenous matched αβTCR pairs at the cell surface. We demonstrate that introducing cy…

GeneticsAdoptive cell transferTranscription GeneticCD3T-LymphocytesImmunologyGenetic transferT-cell receptorReceptors Antigen T-CellCell BiologyHematologyT lymphocyteGene TherapyBiologyBiochemistryCell biologyCell LineAntigenCell cultureProtein Biosynthesisbiology.proteinHumansCysteineReceptorBlood
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Does Down's syndrome support the homocysteine theory of atherogenesis?

2006

Abstract Down syndrome (DS) is generally considered as an “atheroma-free model”. In this preliminary study, we investigated homocysteine, folate and Vitamin B 12 levels in 13 DS patients (male, average age 60 years) and 20 age-matched individuals. We also studied lipid fractions, and polymorphisms for Cystothionine β-synthase (CBS), 5,10-methyl-tetrahydro-folate reductase (MTHFR) and apolipoprotein E (Apo-E) genes. However, DS patients with the MTHFR TT genotype showed an increased of plasma homocysteine (tHcy). Our results indicate that this group of “healthy old” Down syndrome patients, although showing some classical biochemical risk factors for atherosclerosis, did not suffer clinical c…

GeneticsApolipoprotein EAgingDown syndromemedicine.medical_specialtyHealth (social science)biologyApolipoprotein BHomocysteinebusiness.industrymedicine.diseasechemistry.chemical_compoundEndocrinologychemistryMethylenetetrahydrofolate reductaseInternal medicineGenotypebiology.proteinMedicineVitamin B12Geriatrics and GerontologybusinessTrisomyGerontologyArchives of Gerontology and Geriatrics
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Karyotypic diversity among Blastocystis hominis isolates

1997

Fifteen Blastocystis hominis strains, 13 axenic and 2 monoxenic, have been included in the present study. The chromosomal pattern was analyzed by the contour-clamped homogeneous electric-field (CHEF) system. The number of chromosomes detected ranged between 9 and 13, with sizes from 2200 kbp to 260 kbp. Eleven karyotypic profiles, with a common pattern constituted by 8 chromosomes of 2200, 1280, 890, 840, 700, 650, 540 and 260 kbp, were observed. The Jaccard index demonstrated that the similarity between isolates ranged from 0.5714 to 1. The different isolates were clustered in 3 karyotypes (A: 8 isolates; B: 6 isolates and C: 1 isolate). All isolates grouped in karyotype A presented a char…

GeneticsBlastocystisbiologyGenetic VariationKaryotypeBlastocystis InfectionsDNA ProtozoanLoboseabiology.organism_classificationChromosomesElectrophoresis Gel Pulsed-FieldInfectious DiseasesHomogeneousKaryotypingBlastocystis InfectionsGenetic variationAnimalsCluster AnalysisHumansParasite hostingBlastocystis hominisParasitologyAxenicInternational Journal for Parasitology
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Transcriptome Fingerprint of Bovine 2-Cell Stage Blastomeres Is Directly Correlated with the Individual Developmental Competence of the Corresponding…

2012

To date, gene expression profiles of bovine preimplantation embryos have only been indirectly related to developmental potential due to the invasive nature of such procedures. This study sought to find a direct correlation between transcriptome fingerprint of blastomeres of bovine 2-cell stage embryos with developmental competence of the corresponding sister blastomeres. Isolated blastomeres were classified according to the sister blastomere's development into three groups: two groups displayed developmental incompetency, including those blastomeres whose corresponding sister blastomeres either stopped cleaving after separation (2CB) or were blocked after two additional cleavages before emb…

GeneticsCandidate geneMicroarray analysis techniquesEmbryoCell BiologyGeneral MedicineBlastomereBiologyCleavage (embryo)Embryonic stem cellTranscriptomemedicine.anatomical_structureReproductive MedicinemedicineBlastocystBiology of Reproduction
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Molecular Genetic Investigations in Autosomal Dominant Polycystic Kidney Disease. Gene Mutation Detection, Linkage Analysis, and Preliminary ACE Gene…

1997

GeneticsI d polymorphismGenetic linkagebusiness.industryAutosomal dominant polycystic kidney diseasemedicineAce geneGene mutationmedicine.diseasebusinessGenetic association
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Cystinuria subtype and nephrolithiasis

1999

GeneticsMembrane glycoproteinsBiochemistryNephrologyCarrier proteinMutation (genetic algorithm)biology.proteinmedicineCystinuriaBiologymedicine.diseaseKidney International
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