Search results for "Repair"

showing 10 items of 747 documents

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? : Somatic mutational profiles vs. ovarian and colorectal carcinomas

2020

// Noora K. Porkka 1 , Alisa Olkinuora 1 , Teijo Kuopio 2 , 3 , Maarit Ahtiainen 4 , Samuli Eldfors 5 , Henrikki Almusa 5 , Jukka-Pekka Mecklin 6 , 7 , 8 and Paivi Peltomaki 1 1 Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland 2 Department of Pathology, Jyvaskyla Central Hospital, Jyvaskyla, Finland 3 Department of Biological and Environmental Science, University of Jyvaskyla, Jyvaskyla, Finland 4 Department of Education and Research, Jyvaskyla Central Hospital and University of Eastern Finland, Jyvaskyla, Finland 5 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland 6 Faculty of Sport and Health Sciences, University of J…

0301 basic medicineOncologymedicine.medical_specialtyDNA mismatch repair3122 Cancersmedicine.disease_cause03 medical and health sciences0302 clinical medicineBreast cancerGermline mutationInternal medicinemedicinesomatic mutationbreast carcinomaLynchin oireyhtymäMSIperinnölliset tauditrintasyöpäbusiness.industryCancermedicine.diseaseLynch syndromedigestive system diseases3. Good health030104 developmental biologyLynch syndromeOncologysyöpägeenit030220 oncology & carcinogenesisMedical geneticsDNA mismatch repairsyöpätaudit3111 BiomedicinemutaatiotCarcinogenesisBreast carcinomabusinessResearch Paper
researchProduct

HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer

2016

IF 5.65; International audience; Background Every colorectal cancer (CRC) patient should be tested for microsatellite instability (MSI, a marker for defective DNA mismatch repair) as a first screen for Lynch syndrome (LS). In this study, we investigated whether it may be possible to improve the detection of MSI in CRC. We examined whether the HT17 DNA repeat (critical for correct splicing of the chaperone HSP110) might constitute a superior marker for diagnosis of the MSI phenotype in patients with CRC compared with the standard panel of markers (pentaplex).Methods The HT17 polymorphism was analysed in germline DNA from 1037 multi-ethnic individuals. We assessed its sensitivity and specific…

0301 basic medicineOncologymedicine.medical_specialtyGenotypeColorectal cancerPopulationMismatch RepairBiologyGuidelinesBioinformaticsDNA Mismatch RepairColon-Cancer03 medical and health sciences0302 clinical medicineMolecular geneticsInternal medicineDiagnostic-TestsGenotypeGeneticsmedicineBiomarkers TumorHumansChemotherapyHSP110 Heat-Shock Proteinseducation[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsGenotypingneoplasmsGenetics (clinical)Tumorseducation.field_of_studyPentaplex PcrMicrosatellite instabilityDNAmedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisLynch syndromedigestive system diseases3. Good healthMononucleotide Repeats030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics030220 oncology & carcinogenesisDNA mismatch repairMicrosatellite InstabilityLynch-SyndromeColorectal NeoplasmsMutations
researchProduct

Irreversible changes occurring in long-term denervated Schwann cells affect delayed nerve repair.

2017

OBJECTIVEMultiple factors may affect functional recovery after peripheral nerve injury, among them the lesion site and the interval between the injury and the surgical repair. When the nerve segment distal to the lesion site undergoes chronic degeneration, the ensuing regeneration (when allowed) is often poor. The aims of the current study were as follows: 1) to examine the expression changes of the neuregulin 1/ErbB system during long-term nerve degeneration; and 2) to investigate whether a chronically denervated distal nerve stump can sustain nerve regeneration of freshly axotomized axons.METHODSThis study used a rat surgical model of delayed nerve repair consisting of a cross suture betw…

0301 basic medicinePathologymedicine.medical_specialtyTime FactorsNerve rootNeuregulin-1Settore MED/19 - Chirurgia PlasticaSchwann cellNRG1/ErbB system03 medical and health sciences0302 clinical medicinePeripheral Nerve InjuriesMedicineAnimalsNeuregulin 1Rats Wistardelayed nerve repairDenervationneuregulin 1biologybusiness.industryRegeneration (biology)General MedicineAnatomyRecovery of FunctionDenervationMedian nerveNerve RegenerationRats030104 developmental biologymedicine.anatomical_structureperipheral nervePeripheral nerve injuryNerve Degenerationstereologybiology.proteinFemaleSchwann CellsbusinessEpineurial repair030217 neurology & neurosurgeryJournal of neurosurgery
researchProduct

The Role of Sirtuin1 in Regulating Endothelial Function, Arterial Remodeling and Vascular Aging

2019

Sirtuin1 (SIRT1), which belongs to a highly conserved family of protein deacetylase, is one of the best-studied sirtuins. SIRT1 is involved in a variety of biological processes, including energy metabolism, cell proliferation and survival, chromatin dynamics, and DNA repair. In the vasculature, SIRT1 is ubiquitously expressed in endothelial cells, smooth muscle cells, and perivascular adipose tissues (PVAT). Endothelial SIRT1 plays a unique role in vasoprotection by regulating a large variety of proteins, including endothelial nitric oxide synthase (eNOS). In endothelial cells, SIRT1 and eNOS regulate each other synergistically through positive feedback mechanisms for the maintenance of end…

0301 basic medicinePhysiologyDNA repairvascular remodelingAdipose tissueReview030204 cardiovascular system & hematologylcsh:Physiology03 medical and health sciencesSIRT10302 clinical medicineEnosPhysiology (medical)lcsh:QP1-981biologyCell growthbiology.organism_classificationChromatinCell biologyenzymes and coenzymes (carbohydrates)030104 developmental biologyvascular agingPVATeNOSProtein deacetylaseVascular aginghormones hormone substitutes and hormone antagonistsFunction (biology)Frontiers in Physiology
researchProduct

Extracellular vesicles: small bricks for tissue repair/regeneration

2017

Extracellular vesicles (EVs) are nano-sized membrane vesicles involved in intercellular communication. EVs have pleiotropic actions in physiological and pathological conditions. The ability of EVs to transports proteins, drugs and nucleic acid, to target specific cells and to increase the stability of therapeutic cargo, make EVs interesting as new devices for the treatment of human disease. In a recently published issue of European journal of pharmaceutical sciences, Silva and colleagues reviewed the ability of EVs to modulate tissue repair and regeneration, focusing on their roles and therapeutic potential as immunomodulatory messengers. In this perspective, we discussed the open questions…

0301 basic medicineRegeneration (biology)Medicine (all)Context (language use)Tissue repair/regenerationGeneral MedicineTissue repairBiologyExtracellular vesiclesCell biology03 medical and health sciences030104 developmental biologyDual roleHuman diseaseImmune systemImmunologyPerspectiveMembrane vesicleExtracellular vesicles (EVs); Immune system; Tissue repair/regeneration; Medicine (all)Extracellular vesicles (EVs)Pharmaceutical sciences
researchProduct

DICER- and MMSET-catalyzed H4K20me2 recruits the nucleotide excision repair factor XPA to DNA damage sites

2017

The endoribonuclease DICER facilitates chromatin decondensation during lesion recognition following UV exposure. Chitale and Richly show that DICER mediates the recruitment of the methyltransferase MMSET, which catalyzes the dimethylation of histone H4 at lysine 20 and facilitates the recruitment of the nucleotide excision repair factor XPA.

0301 basic medicineRibonuclease IIIDNA RepairDNA damageDNA repairUltraviolet Raysgenetic processes27Article24DEAD-box RNA HelicasesHistones03 medical and health sciencesCell Line TumorHumansResearch ArticlesbiologyLysinefungiEndoribonuclease Dicerfood and beverages37Cell BiologyDNA Repair PathwayHistone-Lysine N-MethyltransferaseCell biologyChromatinXeroderma Pigmentosum Group A ProteinRepressor Proteinsenzymes and coenzymes (carbohydrates)030104 developmental biologyHistoneHEK293 Cellsbiology.proteinBiocatalysisDicerNucleotide excision repairDNA DamageThe Journal of Cell Biology
researchProduct

Telomere Length Determines TERRA and R-Loop Regulation through the Cell Cycle

2017

Maintenance of a minimal telomere length is essential to prevent cellular senescence. When critically short telomeres arise in the absence of telomerase, they can be repaired by homology-directed repair (HDR) to prevent premature senescence onset. It is unclear why specifically the shortest telomeres are targeted for HDR. We demonstrate that the non-coding RNA TERRA accumulates as HDR-promoting RNA-DNA hybrids (R-loops) preferentially at very short telomeres. The increased level of TERRA and R-loops, exclusively at short telomeres, is due to a local defect in RNA degradation by the Rat1 and RNase H2 nucleases, respectively. Consequently, the coordination of TERRA degradation with telomere r…

0301 basic medicineSenescenceTelomeraseSaccharomyces cerevisiae ProteinssenescenceDNA damageR-loopTelomere-Binding ProteinsSaccharomyces cerevisiaeBiologyDDRGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesRif2Cellular SenescenceTelomere-binding proteinRNA-DNA hybridtelomereBiochemistry Genetics and Molecular Biology (all)Telomere-Binding ProteinCell CycleRNANucleic Acid HybridizationRecombinational DNA RepairTERRARepressor ProteinMolecular biologyRat1ExoribonucleaseTelomereRepressor Proteins030104 developmental biologyCell AgingExoribonucleasesR-loopRNase H2Cell agingSaccharomyces cerevisiae ProteinDNA Damage
researchProduct

Human platelet-rich plasma improves the nesting and differentiation of human chondrocytes cultured in stabilized porous chitosan scaffolds

2017

[EN] The clinical management of large-size cartilage lesions is difficult due to the limited regenerative ability of the cartilage. Different biomaterials have been used to develop tissue engineering substitutes for cartilage repair, including chitosan alone or in combination with growth factors to improve its chondrogenic properties. The main objective of this investigation was to evaluate the benefits of combining activated platelet-rich plasma with a stabilized porous chitosan scaffold for cartilage regeneration. To achieve this purpose, stabilized porous chitosan scaffolds were prepared using freeze gelation and combined with activated platelet-rich plasma. Human primary articular chond…

0301 basic medicineShort CommunicationsBiomedical EngineeringMedicine (miscellaneous)Human plateletCartilage tissue engineeringBiomaterialsChitosanlcsh:Biochemistry03 medical and health scienceschemistry.chemical_compoundTissue engineeringActivated platelet-rich plasmamedicinelcsh:QD415-436Cartilage repairPorosityCartilageRegeneration (biology)Stabilized porous chitosantechnology industry and agricultureAnatomyChondrogenesisequipment and supplies030104 developmental biologymedicine.anatomical_structurechemistryMAQUINAS Y MOTORES TERMICOSTERMODINAMICA APLICADA (UPV)Biomedical engineering
researchProduct

Opposite Effects of Mechanical Action of Fluid Flow on Proangiogenic Factor Secretion From Human Adipose-Derived Stem Cells With and Without Oxidativ…

2017

Mechanical forces, hypoxia, and oxidative stress contribute to skin renewal, perfusion, and wound healing, but how are they regulating subcutaneous adipose-derived stem cells (ASCs) in the inflammatory microenvironment associated to skin repair and disorders is unknown. In this study, ASCs were isolated from lipoaspirate samples from plastic surgery patients, primary cultured and their differentiation and secretion of a panel of cytokines with pronounced effects on skin repair and angiogenesis were studied under mechanical stimulation by intermittent fluid flow, 1% hypoxia and oxidative stress by glutathione (GSH) depletion with buthionine sulfoximine (BSO) treatment. Mechanical action of f…

0301 basic medicineSkin repairmedicine.medical_specialtyPhysiologyAngiogenesisClinical BiochemistryAdipose tissueCell BiologyBiologymedicine.disease_cause03 medical and health scienceschemistry.chemical_compound030104 developmental biology0302 clinical medicineEndocrinologychemistry030220 oncology & carcinogenesisInternal medicinemedicineButhionine sulfoximineHuman umbilical vein endothelial cellStem cellWound healingOxidative stressJournal of Cellular Physiology
researchProduct

Iwr1 facilitates RNA polymerase II dynamics during transcription elongation.

2017

Iwr1 is an RNA polymerase II (RNPII) interacting protein that directs nuclear import of the enzyme which has been previously assembled in the cytoplasm. Here we present genetic and molecular evidence that links Iwr1 with transcription. Our results indicate that Iwr1 interacts with RNPII during elongation and is involved in the disassembly of the enzyme from chromatin. This function is especially important in resolving problems posed by damage-arrested RNPII, as shown by the sensitivity of iwr1 mutants to genotoxic drugs and the Iwr1's genetic interactions with RNPII degradation pathway mutants. Moreover, absence of Iwr1 causes genome instability that is enhanced by defects in the DNA repair…

0301 basic medicineTranscription factoriesCytoplasmSaccharomyces cerevisiae ProteinsDNA RepairTranscription GeneticBiophysicsActive Transport Cell NucleusRNA polymerase IISaccharomyces cerevisiaeBiochemistryGenomic Instability03 medical and health sciencesStructural BiologyGeneticsMolecular BiologyRNA polymerase II holoenzymePolymeraseCell NucleusbiologyGeneral transcription factorMolecular biologyChromatinCell biology030104 developmental biologybiology.proteinTranscription factor II FRNA Polymerase IITranscription factor II DCarrier ProteinsTranscription factor II BDNA DamageBiochimica et biophysica acta. Gene regulatory mechanisms
researchProduct