Search results for "Related gene"

showing 10 items of 11 documents

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

2018

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…

0301 basic medicineMedicine (General)Candidate geneclinical evaluationgenetic identificationgenetic analysisQH426-470medicine.disease_causeChromatin Epigenetics Genomics & Functional Genomicswhole exome sequencingddc:590mutator genesingle nucleotide polymorphismddc:576.5Gene Regulatory NetworksExomeExome sequencingCancercancer cellGeneticsMutation1184 Genetics developmental biology physiology3. Good healthgenetic codesyöpägeenitpriority journalMolecular Medicinewild typepoint mutationSystems MedicineColorectal Neoplasmscongenital hereditary and neonatal diseases and abnormalitiesddc:025.063/5703122 Cancerscancer geneticsSingle-nucleotide polymorphismcolorectal cancerBiologygene frequencyta3111mikrosatelliititcolony formationR105W geneArticle03 medical and health sciencesR5-920Gene interactionReportGeneticsmedicineHumanscontrolled studyhumanneoplasmspaksusuolisyöpäPoint mutationgene interactionhuman celltumor-related geneMicrosatellite instabilityMolecular Sequence AnnotationSequence Analysis DNAmedicine.diseaseta3122digestive system diseaseshuman tissueSTK38L gene030104 developmental biologyvalidation processgene expressionSMARCB1 genemicrosatellite instability3111 Biomedicinegene replicationReports
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Quality and antioxidant response of gilthead seabream (Sparus aurata L.) to dietary supplements of fenugreek (Trigonella foenum graecum) alone or com…

2017

The present study was conducted to determine the potential effect of the dietary intake of fenugreek (Trigonella foenum graecum) seeds alone or in combination with Bacillus licheniformis, Lactobacillus plantarum or B. subtilis on gilthead seabream quality and antioxidant response after 2 and 3 weeks of experimental feeding. The results showed that the supplements did not affect the percentage of the fatty acid profiles of muscle, demonstrating that all the additives tested can be administrated without any negative effect on biochemical composition and quality of gilthead seabream. The quantification of thiobarbituric acid reactive substances in muscle demonstrated the significant beneficial…

0301 basic medicineTrigonellaFenugreek seedThiobarbituric acidAquatic ScienceProbioticTeleostsGilthead seabream (Sparus aurata L.)law.inventionSuperoxide dismutase03 medical and health sciencesIngredientchemistry.chemical_compoundProbioticRandom AllocationAdjuvants ImmunologicSettore AGR/20 - ZoocolturelawEnvironmental ChemistryAnimalsBacillus licheniformisFood scienceSettore BIO/06 - Anatomia Comparata E Citologiachemistry.chemical_classificationbiologyPlant ExtractsAntioxidant statuProbioticsFatty acid04 agricultural and veterinary sciencesGeneral Medicinebiology.organism_classificationAnimal FeedImmunity InnateSea BreamDietAntioxidant-related gene expression030104 developmental biologyTrigonellachemistryBiochemistryCatalaseDietary Supplements040102 fisheriesbiology.protein0401 agriculture forestry and fisheriesLactobacillus plantarumBacillus subtilisLactobacillus plantarumFishshellfish immunology
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Targeted mRNA sequencing of small formalin-fixed and paraffin-embedded breast cancer samples for the quantification of immune and cancer-related genes

2017

0301 basic medicinebusiness.industryHematologyFormalin fixedmedicine.diseaseMolecular biologyParaffin embedded03 medical and health sciencesCancer related genes030104 developmental biology0302 clinical medicineMRNA SequencingImmune systemBreast cancerOncology030220 oncology & carcinogenesisMedicinebusiness
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Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Gènes fongiques liés au calcium impliqués dans la mycorhize à arbuscules

2012

Fluctuations in intracellular (Ca2+) calcium levels generate signaling events and regulate different cellular processes. Whilst the implication of Ca2+ in plant cell responses during arbuscular mycorrhiza (AM) interactions is well documented, nothing is known about the regulation or role of this secondary meesenger in the fungal symbiont. The molecular basis of fungal calcium homeostasis in the AM symbiosis was analyzed by investigating the expression of Ca2+-related fungal genes. In a first study, G. mosseae genes putatively encoding a MAP3k-like protein kinase (Gm2) and a P-type ATPase (Gm152) were investigated. Both Ca2+-related genes were up-regulated by A. sinicum root exudates, sugges…

Cell signalingGlomus mosseaeHoméostase calcique[SDV]Life Sciences [q-bio]Protéines membranaires/nucléairesCa2+ homeostasiscalcium;gene;fungal;arbuscular mycorrhiza[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyChampignons mycorhizogènesGènes liés au Ca2+thesegeneMembrane/nuclear proteinsMycorrhizal fungi[SDV.SA] Life Sciences [q-bio]/Agricultural sciencescalciumarbuscular mycorrhizaCa2+-related genesTempo-spatial expressionInteractions symbiotiquesSignalisation cellulairefungal[SDE]Environmental SciencesGlomus intraradicesSymbiotic interactionsExpression tempo-spatiale
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Microsatellite allele 5.1 of major histocompatibility complex class I chain related gene A (MIC-A) is increased among non-insulin dependent diabetes …

2000

Geneticsbiologybusiness.industryEndocrinology Diabetes and MetabolismNon insulin dependent diabetes mellitusGeneral Medicinemedicine.diseaseMajor histocompatibility complexEastern indiaEndocrinologyDiabetes mellitusInternal Medicinemedicinebiology.proteinMicrosatelliteRelated geneAllelebusinessDiabetes Research and Clinical Practice
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P0973 : Quercetin ameliorates MCD-induced non-alcoholic fatty liver disease in mice by modulating inflammatory, oxidative/nitrosative stress and lipi…

2015

HepatologyChemistryFatty liverNon alcoholicLipid metabolismOxidative phosphorylationDiseasePharmacologymedicine.diseasechemistry.chemical_compoundBiochemistrymedicineRelated geneQuercetinPI3K/AKT/mTOR pathwayJournal of Hepatology
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Ranking Series of Cancer-Related Gene Expression Data by Means of the Superposing Significant Interaction Rules Method

2020

The Superposing Significant Interaction Rules (SSIR) method is a combinatorial procedure that deals with symbolic descriptors of samples. It is able to rank the series of samples when those items are classified into two classes. The method selects preferential descriptors and, with them, generates rules that make up the rank by means of a simple voting procedure. Here, two application examples are provided. In both cases, binary or multilevel strings encoding gene expressions are considered as descriptors. It is shown how the SSIR procedure is useful for ranking the series of patient transcription data to diagnose two types of cancer (leukemia and prostate cancer) obtaining Area Under Recei…

Male0301 basic medicineKey genesComputer sciencelcsh:QR1-502Binary numberBiochemistrylcsh:MicrobiologyArticlePattern Recognition AutomatedStructure-Activity Relationship03 medical and health sciencesBig data0302 clinical medicinerankingData MiningHumanscancergene expressionsRelated geneCàncerMolecular BiologyOligonucleotide Array Sequence AnalysisCancerPròstata -- CàncerLeukemiaReceiver operating characteristicbusiness.industryGene Expression ProfilingleukemiaProstatic NeoplasmsLeucèmiaDades massivesPattern recognitionprostate cancerExpressió gènicaSSIR method030104 developmental biologyROC Curvemultilevel fingerprintsExpression dataData Interpretation Statistical030220 oncology & carcinogenesisProstate -- CancerArtificial intelligenceGene expressionbusinessAlgorithms
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Does large NGS panel analysed using exome tumour sequencing improve the management of advanced non-small-cell lung cancers?

2020

Abstract Introduction Non-small-cell lung cancer (NSCLC) is one of the most common and deadly cancers. Several molecular drivers of oncogene addiction are now known to be strong predictive biomarkers for target therapies. Advances in large Next Generation Sequencing (LNGS) have improved the ability to detect potentially targetable mutations. However, the integration of LNGS into clinical management in an individualized manner remains challenging. Methods In this single-center observational study we included all patients with advanced NSCLC who underwent LNGS. Somatic and germline exome analysis was performed with a restriction on 323 cancer related genes. Variants were classified and Molecu…

Pulmonary and Respiratory MedicineOncologyCancer Researchmedicine.medical_specialtyLung Neoplasmsmedicine.medical_treatmentGermlineTargeted therapyInternal medicineCarcinoma Non-Small-Cell LungMedicineHumansExomeLung cancerExomeLungbusiness.industryHigh-Throughput Nucleotide SequencingOncogenesPrecision medicinemedicine.diseaseCancer related genesmedicine.anatomical_structureOncologyMutationNon small cellbusinessLung cancer (Amsterdam, Netherlands)
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Sequence of the new Drosophila melanogaster small heat-shock-related gene, lethal(2) essential for life [l(2)efl], at locus 59F4,5.

1995

Abstract In this study, we report the molecular cloning of a novel Drosophila melanogaster small heat-shock (HS)-homologous gene, l(2)efl, identified on the right arm of the second chromosome at locus 59F4,5. We describe the temporal expression of l(2)efl in the wild-type and present its structure. The deduced amino-acid sequence of the Efl protein shows significant homology to all known small HS proteins identified in Drosophila and vertebrates, and to mammalian α-crystallin.

Signal peptideTranscription GeneticMolecular Sequence DataRestriction MappingLocus (genetics)Genes InsectMolecular cloningHomology (biology)biology.animalSequence Homology Nucleic AcidGeneticsAnimalsDrosophila ProteinsAmino Acid SequenceRNA MessengerRelated geneCloning MolecularGeneHeat-Shock ProteinsIn Situ HybridizationGeneticsbiologyBase SequenceSequence Homology Amino AcidVertebrateGeneral MedicineSequence Analysis DNAbiology.organism_classificationDrosophila melanogasterInsect HormonesGenes LethalDrosophila melanogasterGene
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