Search results for "CML"

showing 10 items of 91 documents

Influence of heme oxygenase 1 modulation on the progression of murine collagen-induced arthritis.

2005

Contains fulltext : 48023.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Heme oxygenase 1 (HO-1) can be induced by inflammatory mediators as an adaptive response. The objective of the present study was to determine the consequences of HO-1 modulation in the murine collagen-induced arthritis (CIA) model. METHODS: DBA/1J mice were treated with an inhibitor of HO-1, tin protoporphyrin IX (SnPP), or with an inducer of HO-1, cobalt protoporphyrin IX (CoPP), from day 22 to day 29 after CIA induction. The clinical evolution of disease was monitored visually. At the end of the experiment, joints were examined for histopathologic changes. Cytokine levels in paws were measured by enzyme-linked…

Metalloporphyrinsmedicine.medical_treatmentImmunologyArthritisProtoporphyrinsInflammationPharmacologyAuto-immunity transplantation and immunotherapy [N4i 4]MiceRheumatologyFibrosismedicinePerception and Action [DCN 1]Immunology and AllergyAnimalsPharmacology (medical)Enzyme InhibitorsChronic inflammation and autoimmunity [UMCN 4.2]biologybusiness.industryMembrane Proteinsmedicine.diseaseCOPPArthritis ExperimentalHeme oxygenaseEnzyme ActivationPathogenesis and modulation of inflammation [N4i 1]Disease Models AnimalCytokineCyclooxygenase 2Mice Inbred DBAProstaglandin-Endoperoxide SynthasesImmunologyChronic DiseaseHeme Oxygenase (Decyclizing)biology.proteinDisease ProgressionTumor necrosis factor alphaJointsCyclooxygenasemedicine.symptombusinessInfection and autoimmunity [NCMLS 1]Heme Oxygenase-1
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Two tiered privacy enhanced intrusion detection system architecture

2009

The paper describes an architecture for privacy-enhanced intrusion detection systems, that separates privacy-invasive and privacy-preserving operations. This can be useful in cases where less sensitive network monitoring is outsourced to a third party and more sensitive network monitoring operations and data forensics are performed in-house or by law enforcement agencies.

Network forensicsInformation privacyComputer sciencePrivacy policyLaw enforcementXACMLComputingMilieux_LEGALASPECTSOFCOMPUTINGIntrusion detection systemNetwork monitoringComputer securitycomputer.software_genreHost-based intrusion detection systemcomputercomputer.programming_language2009 IEEE International Workshop on Intelligent Data Acquisition and Advanced Computing Systems: Technology and Applications
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Interferon-alpha combined with cytarabine in chronic myelogenous leukemia - clinical benefits.

2001

During the last decade, several studies have evaluated the treatment of chronic phase chronic myeloid leukemia (CML) with a combination of interferon (IFN)-alpha and low- dose cytarabine (Ara-C). This combination therapy has been shown to be superior compared to monotherapy with IFN-alpha in randomized studies with regard to hematologic and cytogenetic remissions. However, the survival benefit is small, and the toxicity of the combination therapy is high. This paper reviews the published studies on IFN-alpha/low-dose Ara-C for the treatment of chronic phase CML and discusses the value of the combination therapy.

OncologyCancer Researchmedicine.medical_specialtyCombination therapyAlpha interferonInterferonhemic and lymphatic diseasesInternal medicineLeukemia Myelogenous Chronic BCR-ABL PositiveAntineoplastic Combined Chemotherapy ProtocolsmedicineHumansChronic phase CMLClinical Trials as Topicbusiness.industryCytarabineInterferon-alphaHematologymedicine.diseaseSurvival benefitOncologyToxicityCytarabinebusinessChronic myelogenous leukemiamedicine.drugLeukemialymphoma
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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2…

2012

Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 × 10−5), but increased with age at diagnosis among BRCA2, carriers (P-trend = 6.8 × 10−6). The proportion of triple-negative tumors decreased with age at diagnos…

OncologyPathologyendocrine system diseasesEpidemiologyGenes BRCA2Genes BRCA1Estrogen receptorGene mutation0302 clinical medicineCancer screeningMedicineskin and connective tissue diseasesEstrogen Receptor StatusOvarian Neoplasms0303 health sciencesMiddle Agedfemale genital diseases and pregnancy complications3. Good healthSerous fluidtriple-negative tumorsOncology030220 oncology & carcinogenesisFemaleestrogen receptorAdultmedicine.medical_specialtyBRCA1; BRCA2; breast cancer; estrogen receptor; triple-negative tumorsHereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1]Breast NeoplasmsArticle03 medical and health sciencesbreast cancerBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Internal medicineHumansGenetic Predisposition to DiseaseGenetics and epigenetic pathways of disease Translational research [NCMLS 6]Germ-Line MutationAged030304 developmental biologyHereditary cancer and cancer-related syndromes [ONCOL 1]business.industryCancerBRCA1medicine.diseaseBRCA2Neoplasm GradingbusinessOvarian cancer
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

2012

Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian …

Oncologyendocrine system diseases[SDV]Life Sciences [q-bio]Càncer d'ovariDCN PAC - Perception action and controlCohort StudiesBreast cancer0302 clinical medicinebrca1brca2Odds RatioGenetics (clinical)ComputingMilieux_MISCELLANEOUSOvarian NeoplasmsGenetics0303 health scienceseducation.field_of_studyBRCA1 ProteinHazard ratioMiddle Aged3. Good healthovarian cancer030220 oncology & carcinogenesisFemaleAdultHeterozygotemedicine.medical_specialtyHereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1]PopulationSingle-nucleotide polymorphismBiologyOvarian Neoplasms - geneticsPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerGermline mutationSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancerInternal medicineGeneticsmedicineHumansGenetic Predisposition to Diseaseddc:610Genetics and epigenetic pathways of disease Translational research [NCMLS 6]educationRetrospective Studies030304 developmental biologyBRCA2 ProteinHereditary cancer and cancer-related syndromes [ONCOL 1]associationRetrospective cohort studysnpOdds ratioBRCA1 Protein - geneticsmedicine.diseaseBRCA2 Protein - geneticsMutationOvarian cancerbrca2; snp; brca1; association; ovarian cancer
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Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Pair 6/geneticsGenetics and epigenetic pathways of disease [NCMLS 6]Genome-wide association studyAetiology screening and detection [ONCOL 5]1Q21.1Major Histocompatibility Complex/geneticsMajor Histocompatibility ComplexTranscription Factor 40302 clinical medicineChemicals And Cas Registry NumbersPerception and Action [DCN 1]Copy-number variationPOPULATIONGeneticsPair 18/genetics0303 health scienceseducation.field_of_studyGenomeHuman/geneticsMultidisciplinaryBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsSchizophrenia/*genetics/immunologyGenetic Predisposition to Disease/*genetics3. Good healthDNA-Binding ProteinsNeurogranin/geneticsDISEASESChromosomes Human Pair 6Single Nucleotide/*geneticsFunctional Neurogenomics [DCN 2]Zinc finger protein 804AHumanGenetic MarkersPsychosisGenotypePopulationTranscription Factors/geneticsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideChromosomesPair 11/geneticsArticleChromosomes; Human; Pair 11/genetics; Pair 18/genetics; Pair 6/genetics; DNA-Binding Proteins/genetics; Genetic Markers/genetics; Genetic Predisposition to Disease/*genetics; Genome; Human/genetics; Genome-Wide Association Study; Genotype; Humans; Major Histocompatibility Complex/genetics; Neurogranin/genetics; Polymorphism; Single Nucleotide/*genetics; Schizophrenia/*genetics/immunology; Transcription Factors/geneticsGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesTranslational research [ONCOL 3]medicineHumansSNPGenetic Predisposition to DiseasePolymorphismGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyGenetic associationGenetic Markers/geneticsHereditary cancer and cancer-related syndromes [ONCOL 1]Genome HumanChromosomes Human Pair 11MEMORYmedicine.diseaseGENENEUROGRANINDELETIONSSchizophreniabiology.proteinNeurograninChromosomes Human Pair 18DNA-Binding Proteins/geneticsMENTAL-RETARDATIONSCAN030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…

2008

Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…

ParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Genetics (clinical)0303 health sciencesTPH210058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthData Interpretation StatisticalFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideGenetic determinismGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]Translational research [ONCOL 3]medicineAttention deficit hyperactivity disorderHumansFamilyGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAlleles030304 developmental biologyChi-Square DistributionEndocrinology and reproduction [UMCN 5.2]business.industrymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Multicenter studyAttention Deficit Disorder with HyperactivityEtiologybusiness030217 neurology & neurosurgeryAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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Effects of carboxyamidotriazole on in vitro models of imatinib-resistant chronic myeloid leukemia.

2008

Although imatinib mesylate (IM) has revolutionized the treatment of chronic myeloid leukemia (CML), some patients develop resistance with progression of leukemia. Alternative or additional targeting of signaling pathways deregulated in bcr-abl-driven CML cells may provide a feasible option for improving clinical response and overcoming resistance. In this study, we show that carboxyamidotriazole (CAI), an orally bioavailable calcium influx and signal transduction inhibitor, is equally effective in inhibiting the proliferation and bcr-abl dependent- and independent-signaling pathways in imatinib-resistant CML cells. CAI inhibits phosphorylation of cellular proteins including STAT5 and CrkL a…

PhysiologyMAP Kinase Signaling SystemClinical BiochemistryFusion Proteins bcr-ablDown-RegulationApoptosisSignal transduction inhibitorPharmacologyPiperazineschemistry.chemical_compoundhemic and lymphatic diseasesCell Line TumorLeukemia Myelogenous Chronic BCR-ABL PositivemedicineHumansEnzyme InhibitorsPhosphotyrosineCMLneoplasmsIn Situ Hybridization FluorescenceChronic Myelogenous LeukemiaCell ProliferationCarboxyamidotriazolebusiness.industryCAIMyeloid leukemiaImatinibCell BiologyTriazolesmedicine.diseaseCRKLEnzyme ActivationGene Expression Regulation NeoplasticLeukemiaImatinib mesylatePyrimidineschemistryDrug Resistance NeoplasmMolecular ProbesBenzamidesimatinib resistanceImatinib Mesylateras ProteinsCML; imatinib resistance; CAICarboxyamidotriazolebusinesssignal transductionChronic myelogenous leukemiamedicine.drugJournal of cellular physiology
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BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

2012

OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carrie…

ProbandMaleBBS1Genetics and epigenetic pathways of disease [NCMLS 6]DNA Mutational AnalysisEvaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2]GenotypeEthnicityPrevalenceIsraelGeneticseducation.field_of_studyRetinitis Pigmentosa/diagnosisMiddle AgedDisease gene identificationPedigreeEuropePhenotypeFemaleMicrotubule-Associated ProteinsRetinitis PigmentosaAdultcongenital hereditary and neonatal diseases and abnormalitiesCanadaPopulationCanada/epidemiologyMicroscopy AcousticMutation MissenseEthnic GroupsDNA/geneticsBiologyEurope/epidemiologyGenomic disorders and inherited multi-system disorders [IGMD 3]Bardet-Biedl Syndrome/diagnosisBardet–Biedl syndromeRetinitis pigmentosamedicineElectroretinographyHumansAlleleeducationBardet-Biedl SyndromeIsrael/epidemiologyAllelesDNAMicrotubule-Associated Proteins/geneticsmedicine.diseaseOphthalmoscopyOphthalmologyGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
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Intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is not predicted by either dopamine receptor/transporter genes or other…

2008

Contains fulltext : 69677.pdf (Publisher’s version ) (Closed access) A major goal of genetic studies of attention deficit hyperactivity disorder (ADHD) is to identify individual characteristics that might help segregate the disorder's inherent heterogeneity. [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] recently reported a potentially important association between two dopamine-related risk polymorphisms (DRD4 variable number tandem repeat (VNTR) in exon 3 and DAT1 VNTR in the 3' UTR) and lowered IQ in ADHD. The objective of the current study was to replicate the [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] findings in a clinical sample and to extend the analysis to a large ra…

ProbandMaleGenetics and epigenetic pathways of disease [NCMLS 6]Intelligence2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Receptors DopamineCohort Studies2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]MedicineGenetics(clinical)ChildGenetics (clinical)10058 Department of Child and Adolescent Psychiatry3. Good healthVariable number tandem repeatPsychiatry and Mental healthChild PreschoolFemaleFunctional Neurogenomics [DCN 2]Clinical psychology2716 Genetics (clinical)AdolescentGenotypeSingle-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleRisk factorAssociation (psychology)AllelesDopamine Plasma Membrane Transport Proteinsbusiness.industrymedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Genetic markerAttention Deficit Disorder with Hyperactivitybusiness030217 neurology & neurosurgery
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