Search results for "duplication"

showing 10 items of 216 documents

Leukemia-associated activating mutation of Flt3 expands dendritic cells and alters T cell responses

2016

Lau et al. show that the FLT3-ITD mutation directly affects dendritic cell development in preleukemic mice, indirectly modulating T cell homeostasis and supporting the expansion of regulatory T cells.

0301 basic medicinemedicine.medical_treatmentT cellT-LymphocytesImmunologyDown-RegulationBiologyCD8-Positive T-LymphocytesArticle03 medical and health sciences0302 clinical medicinehemic and lymphatic diseasesGene DuplicationmedicineImmunology and AllergyAnimalsHomeostasisCell LineageProgenitor cellResearch ArticlesCell ProliferationLeukemiaCell growthGene Expression Regulation LeukemicMyeloid leukemiaMembrane Proteinshemic and immune systemsDendritic CellsCell biologyImmunosurveillanceMice Inbred C57BLHaematopoiesis030104 developmental biologyCytokinemedicine.anatomical_structureImmunologyMutationCD8030215 immunologySignal TransductionThe Journal of Experimental Medicine
researchProduct

Graph-based network analysis of transcriptional regulation pattern divergence in duplicated yeast gene pairs

2019

The genome and interactome of Saccharomyces cerevisiae have been characterized extensively over the course of the past few decades. However, despite many insights gained over the years, both functional studies and evolutionary analyses continue to reveal many complexities and confounding factors in the construction of reliable transcriptional regulatory network models. We present here a graph-based technique for comparing transcriptional regulatory networks based on network motif similarity for gene pairs. We construct interaction graphs for duplicated transcription factor pairs traceable to the ancestral whole-genome duplication as well as other paralogues in Saccharomyces cerevisiae. We c…

0303 health sciencesGene regulatory networkComputational biologyBiologyGenomeInteractomeGenetic divergence03 medical and health sciencesNetwork motif0302 clinical medicineGene duplicationDivergence (statistics)Gene030217 neurology & neurosurgery030304 developmental biologyProceedings of the Tenth International Conference on Computational Systems-Biology and Bioinformatics
researchProduct

Network motif-based analysis of regulatory patterns in paralogous gene pairs

2020

Current high-throughput experimental techniques make it feasible to infer gene regulatory interactions at the whole-genome level with reasonably good accuracy. Such experimentally inferred regulatory networks have become available for a number of simpler model organisms such as S. cerevisiae, and others. The availability of such networks provides an opportunity to compare gene regulatory processes at the whole genome level, and in particular, to assess similarity of regulatory interactions for homologous gene pairs either from the same or from different species. We present here a new technique for analyzing the regulatory interaction neighborhoods of paralogous gene pairs. Our central focu…

0303 health sciencesGenomeGene regulatory networkComputational BiologyWhole genome duplicationSaccharomyces cerevisiaeComputational biologyParalogous GeneBiologyBiochemistryComputer Science ApplicationsEvolution Molecular03 medical and health sciencesNetwork motif0302 clinical medicineGene DuplicationEscherichia coliAnimalsGene Regulatory NetworksCaenorhabditis elegansMolecular BiologyGene030217 neurology & neurosurgeryTranscription Factors030304 developmental biologyJournal of Bioinformatics and Computational Biology
researchProduct

“ArgumenteHin, ArgumenteHer.” Regularity and Idiomaticity in GermanN Hin,N Her

2017

This paper seeks to find the best linguistic analysis of the German semispecified, productive patternN hin, N her(for example,Krieg hin, Krieg her, es muss eine gute Show werden‘War or no war, it must be a good show’). The basic question is whether the properties ofN hin, N hercan be accounted for in a rule-based approach or whether they are to be regarded as idiosyncratic properties of this construction. One of the characteristic features ofN hin, N heris the identity of the nouns. This raises the question of whether or notN hin, N heris an instance of syntactic reduplication. It is shown that rule-based copying accounts fail when they are applied to the case ofN hin, N her. The paper argu…

060201 languages & linguisticsReduplicationLinguistics and LanguageLiterature and Literary Theorymedia_common.quotation_subject06 humanities and the artsPragmaticsLanguage and Linguisticslanguage.human_languageLinguisticsGermanLinguistic analysisIdentity (philosophy)Noun0602 languages and literaturelanguageSociologymedia_commonJournal of Germanic Linguistics
researchProduct

Duplication 12q21 in a patient with autistic disorder

2009

12q21 duplication autism
researchProduct

NUOVI AGENTI TERAPEUTICI PER IL TRATTAMENTO DI PATOLOGIE EMATOLOGICHE

2019

La presente invenzione si riferisce al campo di nuove molecole tetracicliche, aventi un sistema tetraciclico, e loro impiego come medicamenti di patologie ematologiche in particolare per il trattamento della leucemia mieloide acuta (AML) in pazienti emizigoti FLT3/ITD resistenti alle terapie convenzionali.

2H-Imidazo [2'1':23][13]thiazolo[45-e]isoindol-8-yl)phenyl]ureas Acute myeloid leukemia (AML) Internal tandem duplication (ITD) FMS-like tyrosine kinase 3 (FLT3) FLT3/ITDSettore CHIM/08 - Chimica Farmaceutica
researchProduct

NEW THERAPEUTIC AGENTS FOR THE TREATMENT OF HAEMATOLOGICAL PATHOLOGIES

2021

2H-Imidazo [2'1':23][13]thiazolo[45-e]isoindol-8-yl-phenylureas Acute myeloid leukemia (AML) Internal tandem duplication (ITD) FMS-like tyrosine kinase 3 (FLT3) FLT3/ITD
researchProduct

Active learning strategies for the deduplication of electronic patient data using classification trees.

2012

Graphical abstractDisplay Omitted Highlights? Active learning for medical record linkage is used on a large data set. ? We compare a simple active learning strategy with a more sophisticated variant. ? The active learning method of Sarawagi and Bhamidipaty (2002) 6] is extended. ? We deliver insights into the variations of the results due to random sampling in the active learning strategies. IntroductionSupervised record linkage methods often require a clerical review to gain informative training data. Active learning means to actively prompt the user to label data with special characteristics in order to minimise the review costs. We conducted an empirical evaluation to investigate whether…

Active learningComputer scienceActive learning (machine learning)Information Storage and RetrievalContext (language use)Health InformaticsSemi-supervised learningMachine learningcomputer.software_genreSet (abstract data type)Artificial IntelligenceBaggingData deduplicationElectronic Health RecordsHumansbusiness.industryString (computer science)Decision TreesOnline machine learningComputer Science ApplicationsData miningArtificial intelligenceMedical Record LinkageString metricbusinesscomputerAlgorithmsJournal of biomedical informatics
researchProduct

Genetic alterations and oxidative metabolism in sporadic colorectal tumors from a Spanish community

1997

Deletions of loci on chromosomes 5q, 17p, 18q, and 22q, together with the incidence of p53 mutations and amplification of the double minute-2 gene were investigated in the sporadic colorectal tumors of 44 patients from a Spanish community. Chromosome deletions were analyzed by means of loss of heterozygosity analysis using a restriction fragment length polymorphism assay. Allelic losses were also detected by polymerase chain reaction (PCR)-single-stranded conformation polymorphism (SSCP) analysis of a polymorphic site in intron 2 of the p53 gene. The percentages of genetic deletions on the screened chromosomes were 39.3% (5q), 58.3% (17p), 40.9% (18q), and 40% (22q). Mutations in p53 exons …

AdultGenetic MarkersMaleGenome instabilityHeterozygoteLipid PeroxidesCancer ResearchChromosomes Human Pair 22DNA Mutational AnalysisAdenocarcinomaBiologymedicine.disease_causeLoss of heterozygosityProto-Oncogene ProteinsGene duplicationmedicineHumansMolecular BiologyGenePolymorphism Single-Stranded ConformationalAgedSequence DeletionGene AmplificationDeoxyguanosineNuclear ProteinsProto-Oncogene Proteins c-mdm2Single-strand conformation polymorphismDNA NeoplasmMiddle AgedGenes p53GlutathioneMolecular biology8-Hydroxy-2'-DeoxyguanosineChromosomes Human Pair 1SpainGenetic markerChromosomes Human Pair 5FemaleRestriction fragment length polymorphismChromosomes Human Pair 18Colorectal NeoplasmsCarcinogenesisOxidation-Reduction
researchProduct

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

AdultGeneticsInverted duplicationBiologyChromosome BandingTerminal (electronics)PregnancyAborted FetusChromosome DuplicationChromosome InversionCat-like cryAmniocentesisGeneticsChromosomes Human Pair 5HumansAbnormalities MultipleFemaleChromosome DeletionAbortion EugenicIn Situ Hybridization FluorescenceGenetics (clinical)American Journal of Medical Genetics Part A
researchProduct