Search results for "PATHOGENESIS"

showing 10 items of 761 documents

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syn…

2007

The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, on…

Hearing lossUsher syndromeDNA Mutational AnalysisMolecular Sequence DataNerve Tissue ProteinsPathogenesisRetinitis pigmentosaotorhinolaryngologic diseasesmedicineHumansAmino Acid SequenceGenetic TestingGeneGenetics (clinical)Geneticsbusiness.industrymedicine.diseaseeye diseasesMutational analysisOphthalmologySpainPediatrics Perinatology and Child HealthMutationSensorineural hearing lossmedicine.symptombusinessUsher SyndromesUSH1G GENEOphthalmic genetics
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Evaluation of a novel biomarker of type XXVIII collagen formation, PRO-C28, in samples from cancer and heart failure with preserved ejection fraction…

2020

Increased turnover of extracellular matrix proteins is seen in many different diseases and is an underlying and driving feature of pathogenesis. An increased ratio of formation over degradation of extracellular matrix proteins, such as collagens, leads to accumulation of proteins in the tissues, ultimately impairing organ function. Understanding how this balance is regulated is key to providing deeper insight into high extracellular matrix turnover diseases. Type XXVIII collagen is a novel collagen with limited information available in relation to expression, tissue prevalence and clinical implication. We generated a novel, technically robust ELISA to measure a C-terminal fragment of type X…

Heart Failuremedicine.medical_specialtyChemistryClinical BiochemistryPharmaceutical ScienceCancerStroke Volumemedicine.diseasePeptide FragmentsAnalytical ChemistryPathogenesisExtracellular matrixCollagen formationEndocrinologyInternal medicineNeoplasmsDrug DiscoverymedicineBiomarker (medicine)HumansIn patientLung cancerHeart failure with preserved ejection fractionSpectroscopyBiomarkersJournal of pharmaceutical and biomedical analysis
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Protective role of heat shock proteins in Parkinson's disease.

2010

Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease. Despite a large amount of research, the pathogenetic mechanism of these diseases has not yet been clarified. Abnormal protein folding, oxidative stress, mitochondrial dysfunction, and apoptotic mechanisms have all been reported as causes of neurodegenerative diseases in association with neuroinflammatory mechanisms which, by generating deleterious molecules, could promote the cascade of events leading to neurodegeneration. Heat shock proteins (HSPs) play a central role in preventing protein misfolding and inhibiting apoptotic activity, and represent a class of proteins potentially involve…

Heat shock proteins Parkinson disease neuroprotective roleParkinson's diseasebiologyNeurodegenerationParkinson DiseaseDiseasemedicine.diseasemedicine.disease_causeHsp90Hsp70PathogenesisNeurologyHeat shock proteinImmunologymedicinebiology.proteinAnimalsHumansHSP70 Heat-Shock ProteinsNeurology (clinical)HSP90 Heat-Shock ProteinsNeuroscienceOxidative stressHeat-Shock ProteinsNeuro-degenerative diseases
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Urticaria in children and adolescents: An updated review of the pathogenesis and management

2018

The present survey represents the latest data on diagnosis and management of childhood urticaria. It has been observed that urticaria occurs less often in children than adults, with symptoms rarely lasting for over 6 weeks. Triggers or aggravating factors can be found only in 21%-55% of cases. Finding autoantibodies in children does not impact a disease prognosis, unlike in adult patients, where the presence of autoantibodies is associated with a more prolonged run of the disease, a more severe prognosis and more intensive treatment methods. The incidence of food allergy equals to 8%-10% of cases. The incidence of Helicobacter Pylori infection in children is lower than that in adults and co…

Helicobacter pylori infectionPediatricsmedicine.medical_specialtyAdolescentUrticariaImmunologyOmalizumabDiseaseDiagnosis DifferentialPathogenesis03 medical and health sciences0302 clinical medicineFood allergyAnti-Allergic AgentsmedicineHumansImmunology and Allergy030212 general & internal medicineAggravating FactorChildbusiness.industryIncidence (epidemiology)Prognosismedicine.disease030228 respiratory systemChronic DiseasePractice Guidelines as TopicPediatrics Perinatology and Child HealthEtiologybusinessmedicine.drugPediatric Allergy and Immunology
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Hepatitis viruses: live and let die.

2007

Viral hepatitis is a diffuse inflammatory reaction of the liver caused by hepatotropic viruses. Among the hepatitis viruses, only hepatitis B virus and hepatitis C virus are able to persist in the host and cause chronic hepatitis. In the course of persistent infection, inflammation forms the pathogenetic basis of chronic hepatitis that can lead to nodular fibrosis, which can progress to cirrhosis and, eventually, hepatocellular carcinoma (HCC). Of the different antiviral defense systems employed by the host, apoptosis significantly contributes to the prevention of viral replication, dissemination, and persistence. Pathomorphologic studies have shown acidophilic bodies and hepatocyte dropout…

Hepatitis B virusHepatitis B virusHepatologyHepatitis C virusViral pathogenesisApoptosisHepacivirusHepatitis BBiologymedicine.diseasemedicine.disease_causeHepatitis BVirologyHepatitis CLiver diseaseViral replicationCytopathogenic Effect ViralLiverHepatocellular carcinomaImmunologymedicineHepatocytesAnimalsHumansViral hepatitisLiver international : official journal of the International Association for the Study of the Liver
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Liver membrane autoantibodies in chronic active hepatitis

1987

Summary Target antigens relevant for immune reactions in inflammatory liver diseases should be expressed on the hepatocellular membrane. Using mechanically or enzymatically isolated rabbit hepatocytes, we evaluated the influence of cell integrity on the detection of membrane-expressed antigens by sera from patients with chronic hepatitis and by murine monoclonal antibodies. Our results provide evidence that target antigens of liver membrane autoantibodies (LMA) as well as liver kidney microsomal antibodies (LKM) are not expressed on the hepatocellular membrane of viable and intact isolated rabbit hepatocytes. However, LMA were detected in the sera of 56% of patients with autoimmune chronic …

HepatitisAutoimmune diseaseHepatologymedicine.drug_classAutoantibodyBiologymedicine.diseaseMonoclonal antibodyPathogenesismedicine.anatomical_structureAntigenHepatocyteImmunologymedicinebiology.proteinAntibodyJournal of Hepatology
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Expression of the 60 kDa heat shock protein in normal and inflamed liver.

1993

The 60 kDa heat shock proteins (HSP 60) have been well conserved throughout evolution and are highly immunogenic. Cross-reactivity between bacterial and mammalian HSP 60 is considered a likely mechanism in the pathogenesis of autoimmune diseases. T cell and B cell reactivity to HSP 60 is found in patients with rheumatoid or juvenile arthritis, and the expression of HSP 60 in the inflamed joint is found to be increased. In this study the presence of HSP 60 was demonstrated in normal and inflamed lives. HSP 60 was found to be predominantly expressed in hepatocytes and Kupffer cells, and mainly localized in mitochondria. Heat stress in the form of a 1 h incubation at 42 degrees C increased HSP…

HepatitisHepatologyT cellKupffer cellInflammationAutoimmune hepatitisChaperonin 60Biologymedicine.diseaseMolecular biologyHepatitisPathogenesismedicine.anatomical_structureLiverReference ValuesHeat shock proteinImmunologyChronic DiseasemedicineHumansmedicine.symptomB cellHeat-Shock ProteinsJournal of hepatology
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HSP10,HSP70 AND HSP90 IMMUNOHISTOCHEMICAL LEVELS CHANGE IN ULCERATIVE COLITIS AFTER THERAPY

2011

Ulcerative colitis (UC) is a form of inflammatory bowel disease (IBD) characterized by damage of large bowel mucosa and frequent extra-intestinal autoimmune comorbidities. The role played in IBD pathogenesis by molecular chaperones known to interact with components of the immune system involved in inflammation is unclear. We previously demonstrated that mucosal Hsp60 decreases in UC patients treated with conventional therapies (mesalazine, probiotics), suggesting that this chaperonin could be a reliable biomarker useful for monitoring response to treatment, and that it might play a role in pathogenesis. In the present work we investigated three other heat shock protein/molecular chaperones:…

HistologyBiophysicsDown-RegulationInflammationcomorbidity.Inflammatory bowel diseaseulcerative colitis heat shock proteins Hsp molecular chaperones inflammation comorbidity.Pathogenesischemistry.chemical_compoundMesalazineulcerative colitis heat shock proteins Hsp molecular chaperones inflammation comorbidityHeat shock proteinChaperonin 10MedicineHspHumansHSP70 Heat-Shock ProteinsHSP90 Heat-Shock ProteinsColitisMesalaminelcsh:QH301-705.5ulcerative colitisbusiness.industryBrief Reportmolecular chaperonesAnti-Inflammatory Agents Non-SteroidalCell Biologymedicine.diseaseUlcerative colitisImmunohistochemistrydigestive system diseaseschemistrylcsh:Biology (General)inflammationImmunologyheat shock proteinsBiomarker (medicine)Colitis Ulcerativemedicine.symptombusiness
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Looking for pathways related to COVID-19 phenotypes: Confirmation of pathogenic mechanisms by SARS-CoV-2 - Host interactome

2020

AbstractIn the last months, many studies have clearly described several mechanisms of SARS-CoV-2 infection at cell and tissue level. Host conditions and comorbidities were identified as risk factors for severe and fatal disease courses, but the mechanisms of interaction between host and SARS-CoV-2 determining the grade of COVID- 19 severity, are still unknown.We provide a network analysis on protein–protein interactions (PPI) between viral and host proteins to better identify host biological responses, induced by both whole proteome of SARS-CoV-2 and specific viral proteins. A host-virus interactome was inferred on published PPI, using an explorative algorithm (Random Walk with Restart) tri…

Host (biology)Viral proteinvirusesCellComputational biologyBiologymedicine.disease_causePhenotypeInteractomePathogenesismedicine.anatomical_structureProteomemedicineViral Accessory Proteins
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Human cytomegalovirus pp71 stimulates major histocompatibility complex class i presentation of IE1-derived peptides at immediate early times of infec…

2013

ABSTRACT Suppression of major histocompatibility complex (MHC) class I-mediated presentation of human cytomegalovirus (HCMV) peptides is an important mechanism to avoid CD8 T lymphocyte recognition and killing of infected cells. Of particular interest is how MHC class I presentation of essential regulatory immediate early (IE) proteins of HCMV can be effectively compromised at times when known viral immunoevasins are not abundantly expressed. The tegument protein pp71 had been suggested to be involved in MHC class I downregulation. Intriguingly, this polypeptide is also critically engaged in the initial derepression of the major IE gene locus, leading to enhanced expression of IE proteins I…

Human cytomegalovirusCD74virusesImmunologyCytomegalovirusBiologyCD8-Positive T-LymphocytesMajor histocompatibility complexMicrobiologyImmediate-Early ProteinsViral ProteinsDownregulation and upregulationVirologyMHC class ImedicineHumansDerepressionAntigen PresentationAntigen processingMHC class I antigenHistocompatibility Antigens Class Ivirus diseasesbiochemical phenomena metabolism and nutritionmedicine.diseaseUp-RegulationInsect ScienceImmunologyCytomegalovirus Infectionsbiology.proteinPathogenesis and ImmunityPeptidesJournal of virology
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