Search results for "Genome Components"

showing 9 items of 9 documents

Prenatal Ambient Air Pollution, Placental Mitochondrial DNA Content, and Birth Weight in the INMA (Spain) and ENVIRONAGE (Belgium) Birth Cohorts

2016

The research leading to these results was funded by the Spanish Ministry of Health (FIS-PI11/00610, FIS-PI041436, FIS-PI081151, FIS-PI042018, and FIS-PI09/02311), the European Union (EU) (FP7-ENV-2011 cod 282957 and HEALTH.2010.2.4.5-1), the Instituto de Salud Carlos III (Red INMA G03/176, CB06/02/0041, FIS-FEDER 03/1615, 04/1509, 04/1112, 04/1931, 05/1079, 05/1052, 06/1213, 07/0314, 09/02647, 11/01007, 11/02591, CP11/00178, FIS-PI06/0867, and FIS-PS09/00090), the Conselleria de Sanitat Generalitat Valenciana, the Generalitat de Catalunya-CIRIT (1999SGR 00241), the Obre Social Cajastur, the Universidad de Oviedo, the Department of Health of the Basque Government (2005111093 and 2009111069),…

0301 basic medicinePediatrics:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Birth Weight [Medical Subject Headings]:Phenomena and Processes::Physiological Phenomena::Physiological Processes::Growth and Development::Morphogenesis::Embryonic and Fetal Development::Fetal Development [Medical Subject Headings]Health Toxicology and MutagenesisPlacentaEspañaPhysiology:Diseases::Pathological Conditions Signs and Symptoms::Pathologic Processes::Growth Disorders::Fetal Growth Retardation [Medical Subject Headings]ADN mitocondrial010501 environmental sciencesMitochondrion01 natural sciencesFetal DevelopmentBélgicaPregnancyBirth Weightskin and connective tissue diseasesPeso al nacerNews | Science SelectionsMitocondrias:Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy [Medical Subject Headings]:Anatomy::Cells::Cellular Structures::Intracellular Space::Cytoplasm::Cytoplasmic Structures::Organelles::Mitochondria [Medical Subject Headings]2. Zero hunger:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]Air PollutantsAmbient air pollutionAire -- ContaminacióFemenino3. Good healthmedicine.anatomical_structureMaternal ExposureFemaleBirth cohort:Health Care::Environment and Public Health::Public Health::Environmental Pollution::Air Pollution [Medical Subject Headings]Mitochondrial DNAmedicine.medical_specialtyModelos LinealesEmbarazoBirth weightInfants -- DesenvolupamentBiology:Chemicals and Drugs::Inorganic Chemicals::Gases::Nitrogen Oxides::Nitrogen Dioxide [Medical Subject Headings]DNA Mitochondrial:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes Mitochondrial [Medical Subject Headings]03 medical and health sciencesAir pollutantsPlacentaAir PollutionmedicineHumans:Geographicals::Geographic Locations::Europe::Belgium [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models Statistical::Linear Models [Medical Subject Headings]Contaminación del aire0105 earth and related environmental sciencesRetardo del crecimiento fetal:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleic Acids::DNA::DNA Circular::DNA Mitochondrial [Medical Subject Headings]Genes mitocondrialesPregnancyPublic Health Environmental and Occupational HealthDesarrollo fetalmedicine.disease:Anatomy::Embryonic Structures::Placenta [Medical Subject Headings]030104 developmental biology:Check Tags::Female [Medical Subject Headings]13. Climate actionSpainsense organsDióxido de nitrógeno
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SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

2017

AbstractBiogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotypic variability. This study aims to identify single nucleotide polymorphisms (SNPs) affecting the expression levels of bone-related mature microRNAs and thus, triggering an osteoporotic phenotype. An association analysis of SNPs located in pri-miRNA sequences with bone mineral density (BMD) was performed in the OSTEOMED2 cohort (n = 2183). Functional studies were performed for assessing the role of BMD-associated miRNAs in bone cells. Two SNPs, rs6430498 in the miR-3679 and rs12512664 in the miR-4274, were significantly associated with femoral neck BMD. Further, we…

0301 basic medicineconformation:Diseases::Wounds and Injuries::Fractures Bone::Hip Fractures [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleGene ExpressionboneOsteoblastosDensidad ósea:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Cohort StudiesGene Frequencysingle nucleotide polymorphismBone DensityBone cellOssosgeneticsFracturas osteoporóticasCells CulturedGeneticsBone mineralMicroARNsMultidisciplinarymicroRNAbiologyQalleleR:Diseases::Wounds and Injuries::Fractures Bone::Osteoporotic Fractures [Medical Subject Headings]clinical trialMiddle Agedcohort analysisPhenotypeHumanosFenotipmedicine.anatomical_structureCancellous BoneosteoblastMedicine:Diseases::Musculoskeletal Diseases::Bone Diseases [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Anatomy::Cells::Connective Tissue Cells::Osteoblasts [Medical Subject Headings]AlelosFenotipomusculoskeletal diseasesmedicine.medical_specialtyGenotypeScienceSingle-nucleotide polymorphismBiologychemistryPolymorphism Single NucleotideArticleBone and Bones:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Cancellous Bone [Medical Subject Headings]03 medical and health sciencesCalcification PhysiologicInternal medicinemicroRNAmedicineHumanshumanproceduresAllele:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesFemoral neckGenetic associationAgedcell culture:Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Bone Density [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]OsteoblastsEnfermedades óseasFracturas de caderaComputational BiologyCuello femoral:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Antisense Elements (Genetics)::RNA Antisense::MicroRNAs [Medical Subject Headings]MicroRNAs030104 developmental biologyEndocrinologymulticenter studybone mineralizationNucleic Acid ConformationOsteoporosispathology:Anatomy::Musculoskeletal System::Skeleton::Bone and Bones::Bones of Lower Extremity::Leg Bones::Femur::Femur Neck [Medical Subject Headings]TranscriptomemetabolismGenotipoFractures
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Genetics in restless legs syndrome

2004

Several studies on Restless leas syndrome (RLS) have suggested a substantial genetic contribution in the etiology of this sleep disorder. Clinical surveys of idiopathic RLS patients have shown that up to 60% report a positive family history. Investigations of single families with RLS have suggested an autosomal dominant mode of inheritance with variable expressivity, and some families show possible anticipation. At present, only one twin study is available, showing a high concordance rate (83.3%) between identical twins. Despite several reports suggesting a genetic contribution to the etiology of idiopathic RLS, few molecular genetic studies have been carried out attempting to identify gene…

GeneticsConcordanceTwinsChromosomeGeneral MedicineBiologymedicine.diseaseTwin studyPedigreeGenome ComponentsGeneticmental disordersAnticipation (genetics)EtiologymedicineHumansGenetic Predisposition to DiseaseRestless legs syndromeGenome-wideFamily historyRestless legs syndromeMolecular BiologyGene
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Common variants of the liver fatty acid binding protein gene influence the risk of type 2 diabetes and insulin resistance in Spanish population.

2012

Journal Article; Research Support, Non-U.S. Gov't; SUMMARY The main objective was to evaluate the association between SNPs and haplotypes of the FABP1-4 genes and type 2 diabetes, as well as its interaction with fat intake, in one general Spanish population. The association was replicated in a second population in which HOMA index was also evaluated. METHODS 1217 unrelated individuals were selected from a population-based study [Hortega study: 605 women; mean age 54 y; 7.8% with type 2 diabetes]. The replication population included 805 subjects from Segovia, a neighboring region of Spain (446 females; mean age 52 y; 10.3% with type 2 diabetes). DM2 mellitus was defined in a similar way in b…

MaleAnatomy and PhysiologyEspañaDiabetes Mellitus Tipo 2:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Type 2 diabetesResistencia a la InsulinaVariación Genética:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]EndocrinologyPolymorphism (computer science)Risk FactorsAnálisis de RegresiónFactores de Riesgo:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]Geneticseducation.field_of_studyMultidisciplinaryAdultoQRMiddle AgedCardiovascular Diseases:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Diabetes Mellitus::Diabetes Mellitus Type 2 [Medical Subject Headings]Regression AnalysisMedicineFemale:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings]Fatty Acid Binding Protein 3Research ArticleAdult:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]GenotypeSciencePopulation:Check Tags::Male [Medical Subject Headings]Single-nucleotide polymorphismEndocrine SystemBiologyFatty Acid-Binding ProteinsPolymorphism Single Nucleotide:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Hyperinsulinism::Insulin Resistance [Medical Subject Headings]Insulin resistanceGenetic variation:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]medicineGeneticsHumans:Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings]education:Diseases::Cardiovascular Diseases [Medical Subject Headings]Biology:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesAgedDiabetic Endocrinology:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Regression Analysis [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]Polymorphism GeneticEndocrine PhysiologyHaplotypeGenetic Variation:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]medicine.diseaseObesity:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Carrier Proteins::Fatty Acid-Binding Proteins [Medical Subject Headings]:Check Tags::Female [Medical Subject Headings]Diabetes Mellitus Type 2HaplotypesSpainMetabolic DisordersMutationInsulin ResistancePopulation GeneticsPloS one
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The nutrigenetic influence of the interaction between dietary vitamin E and TXN and COMT gene polymorphisms on waist circumference: a case control st…

2015

Background Abdominal obesity (AO) is a common modifiable risk factor for certain non-communicable diseases associated with enhanced oxidative stress (OS). The objective of this work was to investigate whether the interaction between antioxidant vitamin intake and OS-related polymorphisms modulates gene-associated anthropometry in a Spanish population. Methods A total of 246 subjects with AO, and 492 age and gender matched non-AO subjects were included in the study. Anthropometric, biochemical, and OS parameters, and antioxidant dietary intake data were assessed using validated procedures. DNA from white blood cells was isolated and the genotype of seven polymorphisms from genes involved in …

MaleAntioxidantPolimorphismmedicine.medical_treatment:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Thioredoxins [Medical Subject Headings]Antioxidantes:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]AntioxidantsVitamin E intakeObesidad abdominalchemistry.chemical_compoundNutrigenomicsThioredoxinsPolymorphism (computer science):Anatomy::Cells::Blood Cells::Leukocytes [Medical Subject Headings]Risk FactorsGenotypeVitamin E:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleosides::Deoxyribonucleosides::Deoxyguanosine [Medical Subject Headings]:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Growth Substances::Micronutrients::Vitamins [Medical Subject Headings]:Phenomena and Processes::Metabolic Phenomena::Metabolism::Oxidative Stress [Medical Subject Headings]Abdominal obesityNutrigenómicaMedicine(all)AnthropometryAge FactorsGeneral MedicineAbdominal obesity:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity::Obesity Abdominal [Medical Subject Headings]Middle Aged:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Models Statistical::Logistic Models [Medical Subject Headings]Waist circumferenceDietaFemale:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]medicine.symptomFactores de riesgoVitaminAdultmedicine.medical_specialtyGenotypeVitamina ECatechol-O-methyltransferaseBiology:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes Reporter [Medical Subject Headings]Catechol O-Methyltransferase:Chemicals and Drugs::Biological Factors::Pigments Biological::Carotenoids::Retinoids::Vitamin A [Medical Subject Headings]Polymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologySex FactorsInternal medicine:Chemicals and Drugs::Inorganic Chemicals::Oxygen Compounds::Reactive Oxygen Species [Medical Subject Headings]:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Protective Agents::Antioxidants [Medical Subject Headings]medicinePerímetro abdominal:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Waist Circumference [Medical Subject Headings]:Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds 2-Ring::Benzopyrans::Vitamin E [Medical Subject Headings]HumansObesityPolymorphismThioredoxinAgedCatechol-O-methyl transferaseBiochemistry Genetics and Molecular Biology(all)Vitamin EResearchCase-control studyGenes informadores:Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics::Nutrigenomics [Medical Subject Headings]DietOxidative StressEndocrinologychemistrySpainOxidative stressCase-Control Studies:Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::One-Carbon Group Transferases::Methyltransferases::Catechol O-Methyltransferase [Medical Subject Headings]:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Nucleic Acids::DNA [Medical Subject Headings]Genotipo
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The Genotype of the Donor for the (GT)n Polymorphism in the Promoter/Enhancer of FOXP3 Is Associated with the Development of Severe Acute GVHD but Do…

2015

The FOXP3 gene encodes for a protein (Foxp3) involved in the development and functional activity of regulatory T cells (CD4+/CD25+/Foxp3+), which exert regulatory and suppressive roles over the immune system. After allogeneic stem cell transplantation, regulatory T cells are known to mitigate graft versus host disease while probably maintaining a graft versus leukemia effect. Short alleles (<=(GT)(15)) for the (GT)(n) polymorphism in the promoter/enhancer of FOXP3 are associated with a higher expression of FOXP3, and hypothetically with an increase of regulatory T cell activity. This polymorphism has been related to the development of auto-or alloimmune conditions including type 1 diabetes …

MaleAnálisis de supervivenciatrasplante de células madre hematopoyéticasmedicine.medical_treatmenthumanos:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Survival Analysis [Medical Subject Headings]Graft vs Host Diseaselcsh:MedicinePolimorfismo genético:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Hematopoietic stem cell transplantationStem cellsRegiones promotoras genéticas:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Trasplante homólogoIL-2 receptorLymphocytesMasculinoPromoter Regions Geneticlcsh:Sciencemediana edadancianoMultidisciplinaryAdultoFemenino:Analytical Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures Operative::Transplantation::Cell Transplantation::Stem Cell Transplantation::Hematopoietic Stem Cell Transplantation [Medical Subject Headings]Hematopoietic Stem Cell TransplantationFOXP3Forkhead Transcription Factorsadultoanálisis de supervivenciaMiddle AgedTissue DonorsHumanosestudios de asociación genéticaadulto jovenmedicine.anatomical_structuresurgical procedures operativeCèl·lules T:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Transcription Factors::Winged-Helix Transcription Factors::Forkhead Transcription Factors [Medical Subject Headings]Female:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]Factores de transcripción en cabeza de tenedorCèl·lules mareTrasplante de células madre hematopoyéticasResearch ArticleAdult:Named Groups::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings]GenotypeGraft-vs-Leukemia EffectRegulatory T cellAncianoT cells:Check Tags::Male [Medical Subject Headings]Graft vs Leukemia Effectfactores de transcripción en cabeza de tenedorHuman leukocyte antigenBiologyEnfermedad injerto contra huéspedLimfòcitsYoung AdultDonantes de tejidos:Named Groups::Persons::Tissue Donors [Medical Subject Headings]:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]medicineHumansTransplantation Homologous:Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings]Genetic Association StudiesAgedMediana edadTransplantationPolymorphism GeneticEstudios de asociación genéticaEfecto injerto contra leucemialcsh:Rdonantes de tejidostrasplante:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]medicine.diseaseSurvival Analysis:Diseases::Immune System Diseases::Graft vs Host Disease [Medical Subject Headings]Transplantation:Analytical Diagnostic and Therapeutic Techniques and Equipment::Surgical Procedures Operative::Transplantation::Transplantation Homologous [Medical Subject Headings]efecto injerto contra leucemiaGraft-versus-host disease:Check Tags::Female [Medical Subject Headings]Immunology:Phenomena and Processes::Immune System Phenomena::Immune System Processes::Transplantation Immunology::Graft vs Host Reaction::Graft vs Tumor Effect::Graft vs Leukemia Effect [Medical Subject Headings]enfermedad injerto contra huésped:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Regulatory Elements Transcriptional::Promoter Regions Genetic [Medical Subject Headings]lcsh:QgenotipoGenotipoPLoS ONE
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The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

2013

Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…

MaleLinkage disequilibrium:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleSLElcsh:MedicineAutoimmunityGenome-wide association studyLinkage DisequilibriumScleroderma:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Gene Frequency:Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group [Medical Subject Headings]Risk FactorsIRF5Genetics of the Immune SystemLupus Erythematosus Systemic:Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma Systemic [Medical Subject Headings]skin and connective tissue diseaseslcsh:ScienceMultidisciplinary:Diseases::Immune System Diseases::Autoimmune Diseases::Lupus Erythematosus Systemic [Medical Subject Headings]Predisposición genética a la enfermedad:Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings]PhenotypeInterferon Regulatory FactorsSYSTEMIC SCLEROSISMedicineEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]FemaleIRF5; SLE; TYPE I INTERFERON; SYSTEMIC SCLEROSISHaplotiposResearch ArticleFactores de riesgoImmunology:Chemicals and Drugs::Amino Acids Peptides and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins Signal Transducing::Interferon Regulatory Factors [Medical Subject Headings]:Check Tags::Male [Medical Subject Headings]:Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings]Single-nucleotide polymorphismHuman leukocyte antigenBiologyPolymorphism Single NucleotideWhite PeopleAutoimmune DiseasesRheumatologyLupus eritematoso sistémicoGeneticsHumansGenetic Predisposition to DiseaseGrupo de ascendencia continental europeaAlleleBiologyAllele frequencyAllelesGenetic Association Studies:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]Scleroderma SystemicHaplotypelcsh:R:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci [Medical Subject Headings]Human Genetics:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]Factores reguladores del interferónHaplotypesDesequilibrio de ligamiento:Check Tags::Female [Medical Subject Headings]Genetic LociTYPE I INTERFERONGenetics of DiseaseImmunologyGenetic PolymorphismClinical Immunologylcsh:Q:Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]Population GeneticsIRF5PLoS ONE
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Role of Kras Status in Patients with Metastatic Colorectal Cancer Receiving First-Line Chemotherapy plus Bevacizumab: A TTD Group Cooperative Study

2012

Background: In the MACRO study, patients with metastatic colorectal cancer (mCRC) were randomised to first-line treatment with 6 cycles of capecitabine and oxaliplatin (XELOX) plus bevacizumab followed by either single-agent bevacizumab or XELOX plus bevacizumab until disease progression. An additional retrospective analysis was performed to define the prognostic value of tumour KRAS status on progression-free survival (PFS), overall survival (OS) and response rates. Methodology/Principal Findings: KRAS data (tumour KRAS status and type of mutation) were collected by questionnaire from participating centres that performed KRAS analyses. These data were then cross-referenced with efficacy da…

MaleOncologyOrganoplatinum Compoundsendocrine system diseasesEpidemiologyColorectal cancer:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]DeoxycytidineMetastasis:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Antineoplastic Combined Chemotherapy ProtocolsPathologyMedicineNeoplasm Metastasisgeneslcsh:Sciencemediana edad:Analytical Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Clinical Protocols::Antineoplastic Protocols::Antineoplastic Combined Chemotherapy Protocols [Medical Subject Headings]Aged 80 and overanciano:Chemicals and Drugs::Organic Chemicals::Organometallic Compounds::Organoplatinum Compounds [Medical Subject Headings]Cancer Risk FactorsClinical Pharmacologyprotocolos de quimioterapia antineoplásica combinadaColon AdenocarcinomaPronósticoCombination chemotherapyadultoPrognosisBevacizumabOxaliplatinpronósticoOncologyMedicineOncology Agentsmedicine.medical_specialty:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]FluorouraciloBevacizumab:Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds 1-Ring::Pyrimidines::Pyrimidine Nucleosides::Cytidine::Deoxycytidine [Medical Subject Headings]:Check Tags::Male [Medical Subject Headings]Molecular GeneticsCapecitabine:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Blood Proteins::Immunoproteins::Immunoglobulins::Antibodies::Antibodies Monoclonal::Antibodies Monoclonal Humanized [Medical Subject Headings]Gastrointestinal TumorsGenetics:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]HumansClinical TrialsBiologyneoplasmsCapecitabineAgedlcsh:R:Diseases::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes Neoplasm::Oncogenes::Proto-Oncogenes::Genes ras [Medical Subject Headings]medicine.diseasedigestive system diseasesOxaliplatin:Check Tags::Female [Medical Subject Headings]PharmacogeneticsMutationlcsh:QfluorouraciloMultivariate analysisDesoxicitidinahumanosCancer Treatment:Named Groups::Persons::Age Groups::Adult::Aged::Aged 80 and over [Medical Subject Headings]lcsh:Medicinemedicine.disease_causeNeoplasias colorrectalesSurgical oncologyBasic Cancer Research:Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds 1-Ring::Pyrimidines::Pyrimidinones::Uracil::Fluorouracil [Medical Subject Headings]Clinical Trials (Cancer Treatment)metástasis neoplásicaMetástasis neoplásicaMultidisciplinaryMiddle AgedGenetic EpidemiologyProtocolos de quimioterapia antineoplásica combinadaFemaleAntiangiogenesis TherapyFluorouracilKRASColorectal NeoplasmsResearch Articlemedicine.drugAdultDrugs and DevicesClinical Pathologyneoplasias colorrectalesClinical Research DesignGenetic Causes of CancerAntibodies Monoclonal HumanizedAntibodiesRectal CancerAntibody TherapyDiagnostic MedicineInternal medicine:Diseases::Neoplasms::Neoplastic Processes::Neoplasm Metastasis [Medical Subject Headings]:Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings]mutaciónClinical GeneticsMutaciónbusiness.industryPharmacoepidemiologyCancers and NeoplasmsHuman GeneticsChemotherapy and Drug TreatmentdesoxicitidinaGenes rasanticuerposGenetics of Diseasebusinesscompuestos organoplatinoPLoS ONE
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The contribution of epistasis to the architecture of fitness in an RNA virus

2004

4 pages, 2 figures.-- PMID: 15492220 [PubMed].-- PMCID: PMC524436.-- Additional information (Suppl. table S1: Relevant information about each single- and double-nucleotide substitution mutant created) available at: http://www.pnas.org/content/101/43/15376/suppl/DC1

RNA virusesGeneticsDNA ComplementaryMultidisciplinarybiologyEpistasis and functional genomicsRNAEpistasis GeneticEvolutionary biologyRNA virusBiological Sciencesbiology.organism_classificationGenomeInteractions among genome componentsVesicular stomatitis virusFitnessFisher's geometric modelGenotypeMutagenesis Site-DirectedEpistasisRNA VirusesEpistasisCloning MolecularMutationsProceedings of the National Academy of Sciences
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