Search results for "Molecular pathogenesis"

showing 10 items of 13 documents

Sequential transcriptome analysis of human liver cancer indicates late stage acquisition of malignant traits

2014

Background & Aims Human hepatocarcinogenesis is as a multi-step process starting from dysplastic lesions to early carcinomas (eHCC) that ultimately progress to HCC (pHCC). However, the sequential molecular alterations driving malignant transformation of the pre-neoplastic lesions are not clearly defined. This lack of information represents a major challenge in the clinical management of patients at risk. Methods We applied next-generation transcriptome sequencing to tumor-free surrounding liver (n=7), low- (n=4) and high-grade (n=9) dysplastic lesions, eHCC (n=5) and pHCC (n=3) from 8 HCC patients with hepatitis B infection. Integrative analyses of genetic and transcriptomic changes were pe…

AdultMaleHepatocarcinogenesisCarcinoma HepatocellularCarcinogenesisBiologyBioinformaticsmedicine.disease_causePolymorphism Single NucleotideArticleMalignant transformationTranscriptomeCarcinomamedicineTumor MicroenvironmentHumansMolecular pathogenesisRNA NeoplasmGeneAgedTumor microenvironmentHepatologyGene Expression ProfilingLiver NeoplasmsWnt signaling pathwayRNA sequencingMiddle Agedmedicine.diseaseGene expression profilingCell Transformation NeoplasticMutationCancer researchDisease ProgressionFemaleCarcinogenesis
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Desmin-related myopathies

1997

Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material. Excess of desmin might represent an abnormal type of protein metabolism.

AdultPathologymedicine.medical_specialtyGranulofilamentous materialCardiomyopathyChromosome DisordersGenes Recessivemacromolecular substancesBiologyDesminMuscular DiseasesmedicineHumansChildMuscle SkeletalGenotype-Phenotype CorrelationsGenes DominantChromosome AberrationsInclusion BodiesDESMIN-RELATED MYOPATHYMyocardiumMolecular pathogenesismusculoskeletal systemmedicine.diseaseActin CytoskeletonNeurologyCytoplasmDesminNeurology (clinical)CardiomyopathiesCurrent Opinion in Neurology
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Clostridium difficile Toxins Disrupt Epithelial Barrier Function by Altering Membrane Microdomain Localization of Tight Junction Proteins

2001

ABSTRACT The anaerobic bacterium Clostridium difficile is the etiologic agent of pseudomembranous colitis. C. difficile toxins TcdA and TcdB are UDP-glucosyltransferases that monoglucosylate and thereby inactivate the Rho family of GTPases (W. P. Ciesla, Jr., and D. A. Bobak, J. Biol. Chem. 273:16021–16026, 1998). We utilized purified reference toxins of C. difficile , TcdA-10463 (TcdA) and TcdB-10463 (TcdB), and a model intestinal epithelial cell line to characterize their influence on tight-junction (TJ) organization and hence to analyze the mechanisms by which they contribute to the enhanced paracellular permeability and disease pathophysiology of pseudomembranous colitis. The increase i…

Bacterial ToxinsImmunologyClostridium difficile toxin ABiologyZonula Occludens-2 ProteinOccludinMicrobiologyCell junctionPermeabilityTight JunctionsMicrobiologyAdherens junctionEnterotoxinsMembrane MicrodomainsBacterial ProteinsIntestinal MucosaClostridioides difficileCell PolarityMembrane ProteinsPseudomembranous colitisClostridium difficilePhosphoproteinsMolecular PathogenesisActinsCell biologyInfectious DiseasesMembrane proteinGlucosyltransferasesParacellular transportZonula Occludens-1 ProteinParasitologyInfection and Immunity
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Molecular diagnosis and therapy of hepatocellular carcinoma (HCC): an emerging field for advanced technologies.

2011

Despite great progress in diagnosis and management of hepatocellular carcinoma (HCC), the exact biology of the tumor remains poorly understood overall limiting the patients' outcome. Detailed analysis and characterization of the molecular mechanisms and subsequently individual prediction of corresponding prognostic traits would revolutionize both diagnosis and treatment of HCC and is the key goal of modern personalized medicine. Over the recent years systematic approaches for the analysis of whole tumor genomes and transcriptomes as well as epigenomes became affordable tools in translational research. This includes simultaneous analyses of thousands of molecular targets using microarray-bas…

Carcinoma HepatocellularSystems biologyGenomicsTranslational researchDiseaseBioinformaticsTarget therapyEpigenesis GeneticTranslational Research BiomedicalCancer stem cellmedicineHumansMolecular pathogenesisPathology MolecularHepatologybusiness.industrySystems BiologyLiver NeoplasmsGenomicsGene expression profilemedicine.diseaseHepatocellular carcinomaNeoplastic Stem CellsPersonalized medicineLiver cancerbusinessTranscriptomeLiver cancerSignal TransductionJournal of hepatology
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Phobalysin, a Small β-Pore-Forming Toxin of Photobacterium damselae subsp. damselae

2015

ABSTRACT Photobacterium damselae subsp. damselae , an important pathogen of marine animals, may also cause septicemia or hyperaggressive necrotizing fasciitis in humans. We previously showed that hemolysin genes are critical for virulence of this organism in mice and fish. In the present study, we characterized the hlyA gene product, a putative small β-pore-forming toxin, and termed it phobalysin P (PhlyP), for “photobacterial lysin encoded on a plasmid.” PhlyP formed stable oligomers and small membrane pores, causing efflux of K + , with no significant leakage of lactate dehydrogenase but entry of vital dyes. The latter feature distinguished PhlyP from the related Vibrio cholerae cytolysin…

ErythrocytesBacterial ToxinsMolecular Sequence DataImmunologyVirulencemedicine.disease_causeHemolysin ProteinsHemolysisMicrobiologyBacterial AdhesionMicrobiologyHemolysin ProteinsmedicineAnimalsHumansAmino Acid SequencePore-forming toxinbiologyPhotobacteriumEpithelial CellsHemolysinPhotobacteriumbiology.organism_classificationMolecular PathogenesisInfectious DiseasesPhotobacterium damselaeVibrio choleraeParasitologyRabbitsCytolysinSequence AlignmentInfection and Immunity
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Desmin‐related Myopathies

2006

Outstanding progress in elucidating the pathology of muscular disorders at light and electron microscopic levels has allowed the identification of proteins involved in pathological alterations. This, in turn, has led to discoveries of multiple genes and mutations associated with previously poorly understood conditions. An unexpected result is that phenotypically similar and pathogenetically related neuromuscular disorders are associated with mutations in one or the other of several interacting proteins. Keywords: desmin-related myopathy; distal myopathy; cardiomyopathy; desmin and alpha-B crystallin gene mutations; functional analysis; molecular pathogenesis; genotype–phenotype correlations

GeneticsCrystallinMolecular pathogenesismedicineCardiomyopathyDesminGene mutationmedicine.symptomBiologyMyopathymedicine.diseaseGenePathologicaleLS
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Hepatozelluläres Karzinom - molekulare Grundlagen und Zielmoleküle für die Therapie

2012

Das hepatozellulare Karzinom zahlt zu den haufigsten Krebserkrankungen weltweit mit einer steigenden Inzidenz in westlichen Landern. Leberzellkarzinome zeichnen sich durch eine molekulare Vielfalt und ein schlechtes Therapieansprechen aus. Trotz groser Fortschritte in der Diagnostik und Behandlung des Leberzellkarzinoms in den letzten Jahren bleiben die Details der biochemischen Mechanismen weitestgehend unverstanden. Hierdurch wird die Entwicklung neuer Therapiestrategien erheblich erschwert. Die rasante Entwicklung von neuen Verfahren zur Analyse molekularer Mechanismen der Krebsentstehung auf verschiedenen molekularen Ebenen hat wesentlich zum Verstandnis der Hepatokarzinogenese beigetra…

Gynecologymedicine.medical_specialtyOncologybusiness.industrymedicineMolecular pathogenesisGeneral MedicinebusinessDMW - Deutsche Medizinische Wochenschrift
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Vibrio vulnificus biotype 2 serovar E gne but not galE is essential for lipopolysaccharide biosynthesis and virulence

2008

ABSTRACT This work aimed to establish the role of gne (encoding UDP-GalNAc 4-epimerase activity) and galE (encoding UDP-Gal-4-epimerase activity) in the biosynthesis of surface polysaccharides, as well as in the virulence for eels and humans of the zoonotic serovar of Vibrio vulnificus biotype 2, serovar E. DNA sequence data revealed that gne and galE are quite homologous within this species (≥90% homology). Mutation in gne of strain CECT4999 increased the surface hydrophobicity, produced deep alterations in the outer membrane architecture, and resulted in noticeable increases in the sensitivity to microcidal peptides (MP), to eel and human sera, and to phagocytosis/opsonophagocytosis. Furt…

LipopolysaccharidesLipopolysaccharidePhagocytosisMolecular Sequence DataImmunologyMutantVirulenceVibrio vulnificusMicrobiologyMicrobiologyMiceUDPglucose 4-Epimerasechemistry.chemical_compoundBacterial ProteinsPhagocytosisVibrionaceaeAnimalsCloning MolecularVibrio vulnificusPhagocytesEelsBase SequenceVirulencebiologyChemotaxisTransferrinGene Expression Regulation Bacterialbiology.organism_classificationMolecular PathogenesisComplementationcarbohydrates (lipids)Infectious DiseaseschemistryBiofilmsMutationBacteris patògensParasitologyCarbohydrate EpimerasesBacterial outer membraneAntimicrobial Cationic Peptides
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Dominant role of paraoxonases in inactivation of the Pseudomonas aeruginosa quorum-sensing signal N-(3-oxododecanoyl)-L-homoserine lactone.

2008

Pseudomonas aeruginosa is an opportunistic bacterium which causes serious infections in immunocompromised and cystic fibrosis patients (10). As with many gram-negative bacteria, P. aeruginosa produces acyl-homoserine lactone (AHL) quorum-sensing (QS) signaling molecules termed autoinducers which allow the single-celled organisms to coordinate their actions (36). N-(3-Oxododecanoyl)-l-homoserine lactone (3OC12-HSL) is a key autoinducer synthesized by P. aeruginosa which regulates the expression of extracellular virulence factors and biofilm formation (5, 36). Rats and mice experimentally infected with P. aeruginosa mutants deficient in the ability to produce or respond to 3OC12-HSL exhibited…

ProteasesCell signalingImmunologyHomoserineBiologymedicine.disease_causeMicrobiologyMicrobiologychemistry.chemical_compoundMice4-ButyrolactonemedicineHomoserineLeukocyte proliferationAnimalsHumansLungEdetic AcidMice Inbred ICRPseudomonas aeruginosaAryldialkylphosphataseHydrolysisBiofilmEsterasesfood and beveragesQuorum SensingGene Expression Regulation BacterialMolecular PathogenesisQuorum sensingInfectious DiseasesBiochemistrychemistryLiverMetalsPseudomonas aeruginosaParasitologyAutoinducerInfection and immunity
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The Streptococcal Exotoxin Streptolysin O Activates Mast Cells To Produce Tumor Necrosis Factor Alpha by p38 Mitogen-Activated Protein Kinase- and Pr…

2003

ABSTRACTStreptolysin O (SLO), a major virulence factor of pyogenic streptococci, binds to cholesterol in the membranes of eukaryotic cells and oligomerizes to form large transmembrane pores. While high toxin doses are rapidly cytocidal, low doses are tolerated because a limited number of lesions can be resealed. Here, we report that at sublethal doses, SLO activates primary murine bone marrow-derived mast cells to degranulate and to rapidly induce or enhance the production of several cytokine mRNAs, including tumor necrosis factor alpha (TNF-α). Mast cell-derived TNF-α plays an important protective role in murine models of acute inflammation, and the production of this cytokine was analyzed…

Transcriptional ActivationImmunologyBiologyp38 Mitogen-Activated Protein KinasesMicrobiologyMiceBacterial ProteinsmedicineAnimalsASK1Mast CellsRNA MessengerProtein kinase AProtein Kinase CProtein kinase CMice Inbred BALB CDose-Response Relationship DrugTumor Necrosis Factor-alphaMast cellMolecular PathogenesisProtein kinase RMolecular biologyInterleukin 33Infectious Diseasesmedicine.anatomical_structureStreptolysinsParasitologyTumor necrosis factor alphaStreptolysinMitogen-Activated Protein KinasesInfection and Immunity
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