Search results for "bone"

showing 10 items of 2629 documents

Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarc…

1995

The NF1 gene encodes neurofibromin, a GTPase-activating protein containing a GAP-related domain (NF1-GRD) that is capable of downregulating ras by stimulating ras intrinsic GTPase activity. We tested 44 sarcomas, nine of which corresponded to sporadic neurofibrosarcomas, for mutations at the NF1-GRD by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, finding no mutation in every sample tested. We suggest that inactivation of the NF1-GRD by gene mutation seems not to be an important event in the tumorigenesis of sarcomas.

congenital hereditary and neonatal diseases and abnormalitiesCancer ResearchNeurofibromatosis 1DNA Mutational AnalysisBone NeoplasmsSoft Tissue NeoplasmsGTPaseBiologyGene mutationmedicine.disease_causePolymerase Chain ReactionGeneticsmedicineHumansneoplasmsMolecular BiologyGenePolymorphism Single-Stranded ConformationalGeneticsMutationNeurofibromin 1ProteinsSarcomaSingle-strand conformation polymorphismmedicine.diseaseNeurofibromin 1eye diseasesnervous system diseasesNeurofibrosarcomaCancer researchbiology.proteinSarcomaCarcinogenesisCancer Genetics and Cytogenetics
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WRN protects against topo I but not topo II inhibitors by preventing DNA break formation

2008

The Werner syndrome helicase/3′-exonuclease (WRN) is a major component of the DNA repair and replication machinery. To analyze whether WRN is involved in the repair of topoisomerase-induced DNA damage we utilized U2-OS cells, in which WRN is stably down-regulated (wrn-kd), and the corresponding wild-type cells (wrn-wt). We show that cells not expressing WRN are hypersensitive to the toxic effect of the topoisomerase I inhibitor topotecan, but not to the topoisomerase II inhibitor etoposide. This was shown by mass survival assays, colony formation and induction of apoptosis. Upon topotecan treatment WRN deficient cells showed enhanced DNA replication inhibition and S-phase arrest, whereas af…

congenital hereditary and neonatal diseases and abnormalitiesWerner Syndrome HelicaseDNA RepairCell SurvivalDNA damageDNA repairBlotting WesternApoptosisBone NeoplasmsBiologyTopoisomerase-I InhibitorBiochemistryArticleWerner Syndrome HelicaseColony-Forming Units AssayHistonesTumor Cells CulturedmedicineHumansTopoisomerase II InhibitorsEnzyme InhibitorsRNA Small InterferingeducationMolecular BiologyEtoposideOsteosarcomaeducation.field_of_studyRecQ HelicasesTopoisomeraseCell CycleDNA Breaksnutritional and metabolic diseasesCell BiologyAntineoplastic Agents PhytogenicMolecular biologyDNA Topoisomerases Type IIExodeoxyribonucleasesBromodeoxyuridineDNA Topoisomerases Type IDNA Replication InhibitionCancer researchbiology.proteinTopoisomerase I InhibitorsTopoisomerase-II InhibitorTopotecanCamptothecinmedicine.drugDNA Repair
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Langer-Giedion syndrome with interstitial 8q-deletion.

1982

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

congenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyChromosome DisordersNoseBone and BonesLanger–Giedion syndromeFingersChromosome analysisInternal medicineIntellectual Disabilityotorhinolaryngologic diseasesMedicineHumansAbnormalities MultipleChildGenetics (clinical)Chromosome AberrationsChromosomes Human 6-12 and XSyndrome typebusiness.industryAnatomySyndromemedicine.diseaseSpineChromosome BandingEndocrinologyKaryotypingFemaleChromosome DeletionbusinessAmerican journal of medical genetics
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Evaluation of the risk factors of asymptomatic vertebral fractures in postmenopausal women with osteopenia at the femoral neck

2016

To identify risk factors of asymptomatic vertebral fracture (aVF) in postmenopausal women with osteopenia at the femoral neck and to evaluate the association between the number of aVFs and the risk of major and hip osteoporotic fracture calculated with the FRAX(®) algorithm.Epidemiological case-series study with data collected transversally.728 postmenopausal women with osteopenia were included: 284 (39.0%) had aVF, of whom 200 (70.4%) had prior fragility fractures (FF). The likelihood of having an osteoporotic fracture in the next 10 years increased significantly with the number of aVF. The percentage of women with height loss, which was assessed as the difference between the greatest heig…

congenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyFRAXBone density030209 endocrinology & metabolismRisk AssessmentAsymptomaticGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineBone DensityRisk FactorsEpidemiologymedicineHumanscardiovascular diseases030212 general & internal medicineAgedRetrospective StudiesFemoral neckFemur NeckHip Fracturesbusiness.industryObstetrics and GynecologyRetrospective cohort studyMiddle Agedmedicine.diseaseSurgeryPostmenopauseOsteopeniaBone Diseases Metabolicmedicine.anatomical_structureSpainMultivariate AnalysisSpinal FracturesFemalemedicine.symptombusinessRisk assessmentAlgorithmsOsteoporotic Fractures
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The C-ORAL-BRASIL project for Brazilian Portuguese spoken corpora

2020

En aquest article presentem un subconjunt de corpus orals de la família C-ORAL, concretament, el corpus C-ORAL-BRASIL de portuguès brasiler espontani (PB). Derivat de la branca no-europea del projecte C-ORAL-ROM (Cresti i Moneglia 2005), el projecte C-ORAL-BRASIL ha aplegat uns corpus orals de PB de tercera generació, el qual destaca no sols com a corpus de PB, sinó també com una bona eina per a l’estudi de la llengua parlada en general, gràcies a algunes millores metodològiques i tecnològiques. A més dels recursos per a l’estudi del PB oral, presentem un conjunt de minicorpus creats per a l’estudi específic de l’estructura informativa (també en altres llengües a més del PB); així mateix, t…

corpus oralsportuguès brasilerLinguistics and Language“UNESCO:HISTORIA”recollida de dades i bones pràctiquesLanguage and Linguisticsprojecte C-ORAL-BRASIL
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Enregistrement du cycle du carbone à la transition Oxfordien inférieur-moyen dans l'est du Bassin de Paris

2021

cycle du carbone[SDU] Sciences of the Universe [physics]Bassin de Parisproduction carbonatéeOxfordien
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Écologie microbienne du cycle du carbone

2007

cycle du carbone[SDV] Life Sciences [q-bio][SDE] Environmental Sciencessolécologie microbienne[SDV]Life Sciences [q-bio][SDE]Environmental Sciences
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Le cycle biogéochimique du carbone.

2013

5 pages; National audience; Bien qu’il ne soit pas l’élément chimique le plus présent sur Terre, le carbone est l’un des composés les plus marquants dans le fonctionnement et l’évolution du système Terre. Un ensemble de processus biogéochimiques nombreux et complexes permet son transfert d’un réservoir à un autre conduisant à un cycle planétaire. Ce dernier est partagé entre un cycle rapide, impliquant les réservoirs atmosphère, océan et biosphère, et un cycle lent, impliquant la croûte terrestre, les sols et l’océan.Le dioxyde de carbone étant un gaz à effet de serre, le cycle du carbone interagit très étroitement avec la machine climatique, aboutissant à la mise en place de boucles de rét…

cycle du carbonefluxréservoirsdioxyde de carboneclimatrégulation[ SDU.OTHER ] Sciences of the Universe [physics]/OtherrétroactionTerre[SDU.OTHER] Sciences of the Universe [physics]/OtherCO2[SDU.OTHER]Sciences of the Universe [physics]/Other
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Mesurer le temps de l'âge du Bronze

2022

Cette question de la mesure du temps reste une préoccupation majeure des archéologues et des spécialistes de l'âge du Bronze bien sûr. Si, globalement, cette période occupe en France une plage de quinze siècles environ, calée entre 2 300 et 800 avant notre ère, il convient toujours de préciser les limites des étapes majeures de l'évolution des sociétés de l'âge du Bronze, mais également de mieux apprécier la place réelle dans le temps des sites étudiés. La question, par exemple, du début de l'âge du Bronze reste toujours une problématique d'actualité qui occupe nos débats, ainsi que parfois ceux de nos collègues néolithiciens. Si on accepte, comme c' est de plus en plus le cas, que le Campa…

datation dendrochronologique[SHS.ARCHEO] Humanities and Social Sciences/Archaeology and Prehistoryâge du Bronzebioapatitedatation radiocarbone
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In Vitro and in Vivo investigation on stem cells isolated from pulp and gingival tissues from periodontally compromised teeth.

2016

dental pulp stem cells gingival mesenchymal stem cells bone regeneration periodontitisHuman medicine
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