Search results for " loci"

showing 10 items of 227 documents

Sabina Era, 天才基因座和平面设计 / Sabina Era, genius loci and graphic design

2010

随着“国际风格”的即将到来,很多人在建筑方 面显露出了优势,并遵照精确的原理完成了设 计,到哪儿都能重复;新兴建筑开始在其他建筑 中兴起,一排花园的顶部是一块巨大的玻璃,虽 然阳光会把它们加热,大雪会把它们覆盖。如果 我可以把概念从建筑转移到平面设计,那我将 会很乐意讲一讲关于Sabina Era的工作方式。她 总是对她的出生地怀着深深的感情和敬意。她 所挑选出来的工具,都是为了去识别,去表达, 去把它转化成图像……她在工作场所言行谨慎, 一点也不夸张,她不会像那些老女人一样化着艳 俗不雅的妆,但会处理得很得体。她喜爱所有被 认为因为时间的流逝而变得极其普通的特点,因 此,她总是很难被认出。我正在写关于她的种种 迹象,她经常使用什么,写些什么,一直关注什 么,就好像是在地上新挖的沟渠一样。 By the coming of the International Style many people reflected upon the positive strength of architecture and carried out that design, which – by following accurate principles – could be repeatable in any place; new architectures rose among the others, and they were provided with big glass surfaces, even though the sun would have heated them up, w…

Settore ICAR/13 - Disegno IndustrialeSabina Era genius loci territory graphic design Sardinia
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Sul carattere dell'architettura. Note per una teoria dell'ambientamento nel paesaggio italiano

2019

Questo contributo intende chiarire il valore profondo che assume il “senso del luogo” nel processo di costruzione e trasformazione fisica del paesaggio tradizionale. Riferendosi alla teoria dell’ambientismo, sviluppata tra gli anni Venti e gli anni Cinquanta del XX secolo, si analizza quella “via italiana” all’architettura che si è opposta all’omologazione linguistica del Movimento Moderno. Un approccio progettuale che ha costruito capolavori capaci di rappresentare, allusivamente e analogicamente, i caratteri essenziali dei luoghi in cui sono costruiti.

Settore ICAR/14 - Composizione Architettonica E UrbanaAmbientamento dell’architettura tradizione carattere dell’architettura genius loci
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Genetic variation in human leukocyte antigen and susceptibility to acute myeloid leukemia.

2015

In this issue of Acta Haematologica, Authors report the association between the Human Major Histocompatibility complex (MHC) HLA-C3 and Acute Myeloid Leukemia (AML) in Korean population, confirming previous studies on association between HLA-C and AML.

Settore MED/04 - Patologia GeneraleMaleDatabases FactualMyeloid leukemiaHematologyGeneral MedicineHuman leukocyte antigenHLA-C AntigensBiologyVirologyLinkage DisequilibriumHLAAssociationLeukemia Myeloid AcuteHaplotypesGenetic LociGenetic variationImmunologyLeukaemiaHumansFemaleLeukaemia; HLA; AssociationActa haematologica
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Genome-wide association analysis identifies six new loci associated with forced vital capacity

2014

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P <5 x 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispani…

SpirometryLung DiseasesVital capacityQuantitative Trait LociVital CapacityGenome-wide association studyBiologyPolymorphism Single NucleotideArticleDISEASEPulmonary function testingCohort StudiesFEV1/FVC ratioIdiopathic pulmonary fibrosisSDG 3 - Good Health and Well-beingMeta-Analysis as TopicForced Expiratory VolumeDatabases GeneticGeneticsmedicineHumansRestrictive lung diseaseLung volumesGenetic Predisposition to Diseaselung; spriometry; SNP; geneGENE-EXPRESSIONGeneticsmedicine.diagnostic_testGenome HumanHERITABILITYHEALTHY TWINMORTALITYta3141respiratory systemmedicine.diseasePrognosis3. Good healthRespiratory Function Testsrespiratory tract diseasesFAMILYLUNG-FUNCTIONGenetic LociSpirometryImmunologyCELLSIDIOPATHIC PULMONARY-FIBROSISTRAITSFollow-Up StudiesGenome-Wide Association StudyNature Genetics
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Adaptive linear rank tests for eQTL studies

2012

Expression quantitative trait loci (eQTL) studies are performed to identify single-nucleotide polymorphisms that modify average expression values of genes, proteins, or metabolites, depending on the genotype. As expression values are often not normally distributed, statistical methods for eQTL studies should be valid and powerful in these situations. Adaptive tests are promising alternatives to standard approaches, such as the analysis of variance or the Kruskal-Wallis test. In a two-stage procedure, skewness and tail length of the distributions are estimated and used to select one of several linear rank tests. In this study, we compare two adaptive tests that were proposed in the literatur…

Statistics and ProbabilityGenetic ResearchModels StatisticalRank (linear algebra)EpidemiologyComputer scienceQuantitative Trait LociMonte Carlo methodLinear modelGene ExpressionPolymorphism Single NucleotideArticleSkewnessExpression quantitative trait lociStatisticsLinear ModelsRange (statistics)HumansAnalysis of varianceComputerized adaptive testingMonte Carlo MethodAlgorithmStatistics in Medicine
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Detection, validation, and downstream analysis of allelic variation in gene expression.

2009

AbstractCommon sequence variants within a gene often generate important differences in expression of corresponding mRNAs. This high level of local (allelic) control—or cis modulation—rivals that produced by gene targeting, but expression is titrated finely over a range of levels. We are interested in exploiting this allelic variation to study gene function and downstream consequences of differences in expression dosage. We have used several bioinformatics and molecular approaches to estimate error rates in the discovery of cis modulation and to analyze some of the biological and technical confounds that contribute to the variation in gene expression profiling. Our analysis of SNPs and alter…

Transcription GeneticQuantitative Trait LociGene ExpressionQuantitative trait locusBiologyInvestigationsPolymerase Chain ReactionPolymorphism Single NucleotideMiceGene mappingGene expressionDatabases GeneticGeneticsAnimalsHumansRNA MessengerGene3' Untranslated RegionsAllelesOligonucleotide Array Sequence AnalysisGeneticsGene Expression ProfilingAlternative splicingGene targetingComputational BiologyReproducibility of ResultsSequence Analysis DNAGene expression profilingAlternative SplicingExpression quantitative trait lociGenetics
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piRNAclusterDB 2.0: update and expansion of the piRNA cluster database.

2021

Abstract PIWI-interacting RNAs (piRNAs) and their partnering PIWI proteins defend the animal germline against transposable elements and play a crucial role in fertility. Numerous studies in the past have uncovered many additional functions of the piRNA pathway, including gene regulation, anti-viral defense, and somatic transposon repression. Further, comparative analyses across phylogenetic groups showed that the PIWI/piRNA system evolves rapidly and exhibits great evolutionary plasticity. However, the presence of so-called piRNA clusters as the major source of piRNAs is common to nearly all metazoan species. These genomic piRNA-producing loci are highly divergent across taxa and critically…

Transposable elementSmall RNAendocrine systemAcademicSubjects/SCI00010Sequencing dataPiwi-interacting RNADatasets as TopicBiologycomputer.software_genreGermlineEvolution Molecular03 medical and health sciences0302 clinical medicineDatabases GeneticGeneticsAnimalsCluster AnalysisHumansDatabase IssueRNA Small InterferingPhylogeny030304 developmental biologyRegulation of gene expression0303 health sciencesInternetGenomePhylogenetic treeDatabaseurogenital systemGenetic LociArgonaute ProteinsDNA Transposable Elementscomputer030217 neurology & neurosurgerySoftwareNucleic acids research
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Management of the image of the city in urban planning: experimental methodologies in the colour plan of the Egadi Islands

2022

AbstractThe debate over the value of the image of a city, which since the 1960s has been gaining wider room for reflection, has arisen as a criticism against the reductionism of the Modern Movement and highlighted the value of the qualitative aspects of an urban landscape. The question asked is if urban planning can in some way govern the image of a city. An investigation into which tools and strategies are necessary to defend the narrative of a city, its identity and its genius loci against the homologating forces that are transforming contemporary cities. The article explores the theoretical principles and methods being experimentally used to qualitatively manage the urban environment. Re…

Urban StudiesGeography Planning and DevelopmentUrban designColour planGenius LociEgadi IslandUrban landscapeSettore ICAR/21 - UrbanisticaUrban regeneration Cultural Heritage Urban Planning
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Geodesic flow of the averaged controlled Kepler equation

2008

A normal form of the Riemannian metric arising when averaging the coplanar controlled Kepler equation is given. This metric is parameterized by two scalar invariants which encode its main properties. The restriction of the metric to $\SS^2$ is shown to be conformal to the flat metric on an oblate ellipsoid of revolution, and the associated conjugate locus is observed to be a deformation of the standard astroid. Though not complete because of a singularity in the space of ellipses, the metric has convexity properties that are expressed in terms of the aforementioned invariants, and related to surjectivity of the exponential mapping. Optimality properties of geodesics of the averaged controll…

[ MATH.MATH-OC ] Mathematics [math]/Optimization and Control [math.OC]0209 industrial biotechnologyGeodesicGeneral MathematicsCut locusConformal map02 engineering and technologyKepler's equationFundamental theorem of Riemannian geometry01 natural sciencesConvexityIntrinsic metricsymbols.namesake020901 industrial engineering & automationSingularity0101 mathematicsorbit transferMathematicsApplied Mathematics010102 general mathematicsMathematical analysis[MATH.MATH-OC] Mathematics [math]/Optimization and Control [math.OC]cut and conjugate lociRiemannian metrics49K15 70Q05symbols[MATH.MATH-OC]Mathematics [math]/Optimization and Control [math.OC]
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