Search results for "collagen"

showing 10 items of 620 documents

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hyper…

2023

Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…

ACMG/AMP criteria variants in collagen genes joint hypermobilityGeneticsACMG/AMP criteriacollagen geneshereditary connective tissue disorders (HCTD)Settore MED/03 - GENETICA MEDICAhereditary connective tissue disorders (HCTD) ACMG/AMP criteria collagen genesGenetics (clinical)Human Genetics
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Angiotensin II dependent cardiac remodeling in the eel Anguilla anguilla involves the NOS/NO system

2017

Angiotensin II (AngII), the principal effector of the Renin-Angiotensin System (RAS), plays an important role in controlling mammalian cardiac morpho-functional remodelling. In the eel Anguilla anguilla, one month administration of AngII improves cardiac performance and influences the expression and localization of molecules which regulate cell growth. To deeper investigate the morpho-functional chronic influences of AngII on the eel heart and the molecular mechanisms involved, freshwater eels (A. anguilla) were intraperitoneally injected for 2 months with AngII (1 nmol g BW-1). Then the isolated hearts were subjected to morphological and western blotting analyses, and nitrite measurements.…

AT(2) receptor; ERK(1-2); Hsp90; Myocardial growth; NOSTRIN0301 basic medicineMAPK/ERK pathwayCancer ResearchPhysiologyClinical Biochemistry030204 cardiovascular system & hematologyBiochemistrychemistry.chemical_compound0302 clinical medicineEnosMyocardial growthReceptorMitogen-Activated Protein Kinase 1Mitogen-Activated Protein Kinase 3Receptors AngiotensinVentricular RemodelingAngiotensin IIHeartNitric oxide synthaseERKmedicine.anatomical_structurecardiovascular systemCollagenmedicine.medical_specialtyEndotheliumHeart VentriclesHsp90BiologyNitric OxideNitric oxide03 medical and health sciencesInternal medicinemedicineAnimalsHSP90 Heat-Shock ProteinsVentricular remodelingAT receptorNitritesERK(1-2)Anguillamedicine.diseasebiology.organism_classificationNOSTRINAngiotensin II030104 developmental biologyEndocrinologychemistryAT(2) receptorbiology.proteinNitric Oxide SynthaseProto-Oncogene Proteins c-akt
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Nuovo siero con vitamina C levogira stabilizzato con melatonina e resveratrolo. Prove di stabilità e uso clinico

2012

Nuovo siero con vitamina C levogira stabilizzato con melatonina e resveratrolo. Prove di stabilità e uso clinico Matteo Tutino, Giuseppe Morici, L. Cavarra, Francesco Nanfitò, D. Camacaro, Vittorio Calabrese. Università di Palermo, Dipartimento di Biomedicina sperimentale e neuroscienze cliniche - Università di Catania, Dipartimento Biochimica Clinica Fino ad ora è stato difficile utilizzare la vitamina C nelle preparazioni cosmetiche a causa della sua instabilità. L’acido ascorbico infatti si ossida velocemente in seguito all’esposizione alla luce, alla temperatura e all’aria. In questo lavoro viene riportata la capacità della melatonina e del resveratrolo a stabilizzare la vitamina C levo…

Acido ascorbicoCollageneLisinaiper-pigmentazioniSettore BIO/09 - FisiologiaProlina
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Prolidase deficiency in two dermatological patients in western Sicily

2020

Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of the disorder are iminodipeptiduria, chronic skin ulcers, recurring infections, mental retardation and characteristic facial appearance, although prolidase deficiency can occur with no clinical manifestation. The primary biological function of the enzyme involves the metabolism of collagen degradation products and the recycling of proline for collagen resynthesis. We describe two patients with prolidase deficiency and review the different clinical manifestations suggesting the pathogenetic mechanism through few hypotheses.

Adult030203 arthritis & rheumatologyProlidase deficiencyCollagen degradationbusiness.industryDermatologyClinical manifestationmedicine.disease030207 dermatology & venereal diseases03 medical and health sciencesFacial appearanceChronic skin ulcers0302 clinical medicineImmunologymedicineHumansFemaleProlidase deficiency ulcersProlidase DeficiencyIminodipeptiduriabusinessSicilyGiornale Italiano di Dermatologia e Venereologia
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Biocompatibility of various collagen membranes in cultures of human PDL fibroblasts and human osteoblast-like cells

2004

The aim of the present study was to evaluate the biocompatibility of differently cross-linked collagen membranes in cultures of human PDL fibroblasts and human osteoblast-like cells. Four collagen membranes [BioGide (BG), BioMend (BM), Ossix (OS) and TutoDent (TD)] were tested. Cells plated on culture dishes (CD) served as positive controls. Six specimens of each membrane were incubated with (1) human PDL fibroblasts [2 x 10(4) cells] (n=24), and (2) human osteoblast-like cells (SaOs-2) [2 x 10(4) cells] (n=24) under standardized conditions. After 7 days, adherent cells were stained with hematoxylin and counted using a reflected light microscope and the cell density per square millimeter wa…

AdultBiocompatibilityPeriodontal LigamentFibrillar CollagensCellH&E stainBiocompatible MaterialsCell morphologyStatistics NonparametricMaterials TestingCell AdhesionTumor Cells CulturedmedicineHumansPeriodontal fiberCell adhesionCells CulturedOsteoblastsChemistryMembranes ArtificialOsteoblastFibroblastsMolecular biologyCross-Linking Reagentsmedicine.anatomical_structureMembraneImmunologyGuided Tissue Regeneration PeriodontalMicroscopy Electron ScanningFemaleOral SurgeryClinical Oral Implants Research
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Expression of host defense scavenger receptors in spondylarthropathy

2001

Objective Reactive arthritis (ReA) is postulated to be caused by a defective host defense against gram-negative bacteria. HLA–B27 could play a role in this process, but does not account for the many HLA–B27 negative patients. The objective of this study was to test the expression of 3 macrophage scavenger receptors (SRs) that are responsible for innate immunity against gram-negative bacteria: SR class A type I (SR-AI), SR-AII, and the macrophage receptor with collagenous structure (MARCO). We postulate that defects in such receptors might also contribute to the host risk factors that increase the predisposition to ReA and perhaps other subtypes of spondylarthropathy (SpA). Methods Periphera…

AdultCD36 AntigensMalemusculoskeletal diseasesCellular immunityAdolescentInflammatory arthritisImmunologyPeripheral blood mononuclear cellArthritis ReactiveImmune systemRheumatologyProhibitinsSynovial FluidmedicineImmunology and AllergySynovial fluidHumansPharmacology (medical)Spondylitis AnkylosingRNA MessengerScavenger receptorReceptors ImmunologicDNA PrimersReceptors LipoproteinReceptors Scavengerbusiness.industryReverse Transcriptase Polymerase Chain ReactionMacrophagesSynovial MembraneMembrane ProteinsScavenger Receptors Class AMiddle AgedScavenger Receptors Class Bmedicine.diseaseMacrophage receptor with collagenous structuremedicine.anatomical_structureImmunologySalmonella InfectionsLeukocytes MononuclearFemaleSynovial membranebusinessArthritis and rheumatism
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Volume stability of hydroxyapatite and β-tricalcium phosphate biphasic bone graft material in maxillary sinus floor elevation: a radiographic study u…

2015

Objectives The purpose of this study was to confirm volume stability of biphasic calcium phosphate (BCP) through the changes of grafted volume over the time by 3D CT analyzing software program. Patients and Methods Fifteen patients, 16 sinuses who were scheduled a staged implantation through sinus floor elevation (SFE)–lateral window technique from 2009 to 2011 were included in the study. Of the 15 patients, eight were male and seven were female (mean age 50.1). For sinus floor augmentation, BCP with local blood was packed loosely into the maxillary sinus and the grafted site was covered with a collagen membrane. For the evaluation of volume change, 3D CBCT scans were taken five times at pr…

AdultCalcium PhosphatesMaleCone beam computed tomographySinus Floor Augmentationmedicine.medical_specialtyMaterials scienceMaxillary sinusRadiographySinus Floor AugmentationSinus floor elevation03 medical and health sciencesImaging Three-Dimensional0302 clinical medicinemedicineHumansProspective Studies030212 general & internal medicineAgedβ tricalcium phosphatebusiness.industry3d image processingMembranes Artificial030206 dentistryCone-Beam Computed TomographyMiddle AgedSurgeryDurapatiteTreatment Outcomemedicine.anatomical_structureVolume (thermodynamics)Bone SubstitutesRadiographic Image Interpretation Computer-AssistedFemaleCollagenOral SurgerybusinessBiomedical engineeringClinical Oral Implants Research
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Expression of adhesion factors and degrading proteins in primary and secondary glioblastomas and their precursor tumors.

2000

In tumor tissue specimens of 27 primary and 17 secondary glioblastomas and the precursor lesions, the immunohistochemical expression patterns of the membrane protein CD44s, the basal lamina proteins laminin, collagen IV, and fibronectin, the lectin galectin-3 recognizing tenascin and N-CAM as well as of the matrix-degrading enzymes matrix metalloproteinase MMP-2 and MMP-9, and cathepsin D were studied. Besides expression of basal lamina proteins in vessels, all glioblastomas and the precursor lesions showed strong immunoreactivity of CD44s, tenascin, galectin-3, and N-CAM which were restricted to solid tumor masses. Present in solid tumor areas, MMP-2, MMP-9 and cathepsin D were also strong…

AdultCancer Researchanimal structuresGalectin 3TenascinCathepsin DBiologyAstrocytomaCathepsin DLamininGliomamedicineHumansCell adhesionNeural Cell Adhesion MoleculesBrain NeoplasmsMiddle Agedmedicine.diseaseMolecular biologyAntigens DifferentiationImmunohistochemistryMatrix MetalloproteinasesFibronectinsFibronectinmedicine.anatomical_structureHyaluronan ReceptorsMembrane proteinMatrix Metalloproteinase 9biology.proteinMatrix Metalloproteinase 2Basal laminaCollagenLamininNeoplasm Recurrence LocalGlioblastomaInvasionmetastasis
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Importance of Patella, Quadriceps Forces, and Depthwise Cartilage Structure on Knee Joint Motion and Cartilage Response During Gait

2015

In finite-element (FE) models of the knee joint, patella is often omitted. We investigated the importance of patella and quadriceps forces on the knee joint motion by creating an FE model of the subject's knee. In addition, depthwise strains and stresses in patellar cartilage with different tissue properties were determined. An FE model was created from subject's magnetic resonance images. Knee rotations, moments, and translational forces during gait were recorded in a motion laboratory and used as an input for the model. Three material models were implemented into the patellar cartilage: (1) homogeneous model, (2) inhomogeneous (arcadelike fibrils), and (3) random fibrils at the superficia…

AdultCartilage ArticularMalemusculoskeletal diseasesquadricepsMaterials science0206 medical engineeringShear forceBiomedical Engineering02 engineering and technologyOsteoarthritisKnee Jointmedicine.disease_causegaitModels BiologicalQuadriceps MuscleWeight-bearingWeight-Bearingknee joint03 medical and health sciences0302 clinical medicineTensile StrengthPhysiology (medical)Collagen networkfinite-element modelsmedicineHumansComputer SimulationRange of Motion Articularta315Orthodonticsta114Cartilage030229 sport sciencesmusculoskeletal systemmedicine.disease020601 biomedical engineeringmedicine.anatomical_structurepatellaPatellaStress MechanicalRange of motionhuman activitiesMuscle ContractionJournal of Biomechanical Engineering
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CD10 and HHF35 actin in the differential diagnosis between Collagenous Spherulosis and Adenoid-Cystic Carcinoma of the breast

2012

Collagenous Spherulosis (CS) and Adenoid-Cystic Carcinoma (AdCC) of the breast consist of cribriform proliferations of epithelial and myoepithelial cells with an immunophenotypic overlap of some myoepithelial markers, such as p63 and smooth muscle actin (SMA). To our knowledge, CD10 and HHF35 actin have not been assessed in the differential diagnosis of these two breast lesions. We performed an immunohistochemical study on 6 cases of CS and 9 cases of AdCC. We found CD10, muscle-specific actin (HHF35), Estrogen and Progesterone receptors (ER and PR) to be strongly expressed in CS, but not in AdCC; C-kit was diffusely positive in AdCC and scanty in CS; SMA, p63 and Cytokeratine 5/6 (CK5/6) w…

AdultCell typePathologymedicine.medical_specialtyCollagenous SpherulosiAdenoid cystic carcinomaBreast NeoplasmsSettore MED/08 - Anatomia PatologicaHistogenesisBiologyMyoepitheliomaAdenoid-Cystic CarcinomaPathology and Forensic MedicineDiagnosis DifferentialImmunophenotypingimmune system diseasesBiomarkers TumormedicineCarcinomaHumansBreastAgedRetrospective StudiesMyoepithelial cellBreast; Collagenous Spherulosis; Adenoid-Cystic Carcinoma; CD10; HHF35Cell BiologyMiddle Agedmedicine.diseaseCarcinoma Adenoid CysticActinsCollagenous spherulosisCD10ImmunohistochemistryFemaleNeprilysinHHF35Breast Collagenous Spherulosis Adenoid-Cystic Carcinoma CD10 HHF35CollagenPathology - Research and Practice
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