Search results for "génétique"

showing 10 items of 132 documents

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

0301 basic medicineMaleGénétique clinique[SDV]Life Sciences [q-bio]MedizinPhysiology030105 genetics & hereditySeizures/epidemiologyEpilepsyBrain Diseases/epidemiologyX-linked inheritanceIntellectual disabilityGuanine Nucleotide Exchange FactorsProtein IsoformsMissense mutationGenetics(clinical)10. No inequalityNon-U.S. Gov'tGenetics (clinical)X-linked recessive inheritanceComputingMilieux_MISCELLANEOUSBrain DiseasesSex CharacteristicsResearch Support Non-U.S. Gov'tBrainSciences bio-médicales et agricoles3. Good healthPedigreePhenotypeintellectual disabilityFemaleBrain/growth & developmentSex characteristicsGénétique moléculaireGuanine Nucleotide Exchange Factors/geneticsEncephalopathyResearch SupportX-inactivationArticle03 medical and health sciencesSeizuresProtein Isoforms/geneticsmedicineJournal ArticleIQSEC2HumansIntellectual Disability/epidemiology[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfant NewbornisoformsCorrectionInfantmedicine.diseaseNewbornHuman genetics030104 developmental biologyMutationepilepsyHuman medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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A Peptidoglycan-Remodeling Enzyme Is Critical for Bacteroid Differentiation in Bradyrhizobium spp. During Legume Symbiosis.

2016

International audience; In response to the presence of compatible rhizobium bacteria, legumes form symbiotic organs called nodules on their roots. These nodules house nitrogen-fixing bacteroids that are a differentiated form of the rhizobium bacteria. In some legumes, the bacteroid differentiation comprises a dramatic cell enlargement, polyploidization, and other morphological changes. Here, we demonstrate that a peptidoglycan-modifying enzyme in Bradyrhizobium strains, a DD-carboxypeptidase that contains a peptidoglycan-binding SPOR domain, is essential for normal bacteroid differentiation in Aeschynomene species. The corresponding mutants formed bacteroids that are malformed and hypertrop…

0301 basic medicinePhysiology[SDV]Life Sciences [q-bio]Mutantnodosité racinairechemistry.chemical_compoundBacteroidesBradyrhizobiumPhotosynthesisPhotosynthèseDifférenciation cellulaire2. Zero hungerhttp://aims.fao.org/aos/agrovoc/c_2603http://aims.fao.org/aos/agrovoc/c_6094food and beveragesFabaceaeGeneral MedicinePolyploïdieCode génétiqueRhizobiumhttp://aims.fao.org/aos/agrovoc/c_3215Symbiosihttp://aims.fao.org/aos/agrovoc/c_27138F60 - Physiologie et biochimie végétaleSymbioseBacterial Proteinhttp://aims.fao.org/aos/agrovoc/c_772PeptidoglycanBiologyBradyrhizobiumMicrobiology03 medical and health sciencesPhotosynthesiBacterial ProteinsSymbiosisPeptidaseSymbiosishttp://aims.fao.org/aos/agrovoc/c_7563Binding Sites[ SDV ] Life Sciences [q-bio]Binding SiteP34 - Biologie du solAeschynomeneGene Expression Regulation Bacterialbiology.organism_classificationhttp://aims.fao.org/aos/agrovoc/c_27601http://aims.fao.org/aos/agrovoc/c_5014030104 developmental biologychemistryEnzymeMutationhttp://aims.fao.org/aos/agrovoc/c_5812http://aims.fao.org/aos/agrovoc/c_5690PeptidoglycanBacteroidesAgronomy and Crop ScienceBacteriahttp://aims.fao.org/aos/agrovoc/c_2265
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The concept of genus within the family Phytoseiidae (Acari: Parasitiformes): historical review and phylogenetic analyses of the genus Neoseiulus Hugh…

2012

Systematic studies on the family Phytoseiidae were first conducted at the beginning of the 20th century but increased greatly after the Second World War. Various classifications have been proposed based on different characters such as: dorsal, ventral, and leg chaetotaxy; the shape of ventrianal and sternal shields; the shape of the insemination apparatus (spermatheca) and spermatodactylus; the number of teeth on the movable digit of chelicera; and dorsal and ventral adenotaxy. The genus concepts developed over the last five decades can be divided into two main categories or hypotheses. The first, supported mainly by Chant and McMurtry, focuses on dorsal and ventral chaetotaxy, and the gene…

12S rRNA – chaetotaxy – insemination apparatus – ITS – phylogenyArthropoda[SDV]Life Sciences [q-bio]BiodiversitygénétiqueSettore BIO/18 - GeneticaSettore AGR/11 - Entomologia Generale E ApplicataSAclassificationArachnidaMesostigmataphylogénieAnimaliaappareils d'inséminationPhytoseiidaeARNr 12SacarienchétotaxieTaxonomy
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Temporal variability of airborne bacterial community structure in an urban area

2006

International audience; Temporal airborne bacterial genetic community structure and meteorological factors were analysed above an urban area in the northwest of France from December 2003 to April 2004 with a sampling strategy considering different time intervals (from an hour to a month). Principal component analysis (PCA) of B-ARISA (Bacterial-Automated Ribosomal Intergenic Spacer Analysis) profiles revealed a hierarchy in the temporal variability of bacterial community: daily<weekly<seasonal. Co-inertia analysis between B-ARISA data and meteorological factors demonstrated the correlation between the seasonal variability in the bacterial community and climatic conditions such as temperatur…

Atmospheric ScienceHierarchybactérie aériennegeography.geographical_feature_category010504 meteorology & atmospheric sciencesairEcology[SDE.MCG]Environmental Sciences/Global ChangesRibosomal Intergenic Spacer analysisPopulation structureCommunity structureSampling (statistics)010501 environmental sciencesUrban areabacterial communitytemporal varibility01 natural sciencesdiversityGeographydiversité génétiquePrincipal component analysisGENETIQUE DES POPULATIONS0105 earth and related environmental sciencesGeneral Environmental ScienceAtmospheric Environment
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Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec …

2020

In the last years, the advent of exome sequencing (ES) in diagnosis and in research led to the identification of the genetic bases of many Mendelian disorders, allowing many diagnostic wavering cases to be solved. Nevertheless, ES data analysis only leads to the identification of pathogenic or likely pathogenic variants in 30 to 45 % of the undiagnosed cases. Indeed, some limits exist, both at clinical, molecular and bioinformatic levels. The constant evolution of the clinical knowledge, of the number of genes involved in human diseases, and of the clinical-biological correlations, has a significant impact on data analysis, leading to a progressive improvement in diagnostic research. Limits…

BioinformatiqueBioinformatics[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyMaladies génétiques raresExome[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyRare genetic diseases
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Butor, Mondrian et la fragmentation de l’espace: parcours génétique d’un roman-laboratoire

2018

Passage de Milan est sans aucune doute le chantier où Butor commence à travailler sur la forme du roman qui trouve son contrepoint théorique dans les essais publiés juste après sa parution. Parmi les épisodes qui se trouvent en relation métonymique avec le roman, c’est par la description du tableau de Martin De Vere, claire allusion au néoplasticisme de Mondrian, que Butor nous donne une représentation à échelle réduite de l’édifice et de ses habitants. Ce tableau inachevé où tous les éléments sont provisoires n’est que l’image du roman en gestation qui s’écrit au fur et à mesure que la narration avance. Les phases d’élaboration de cet épisode permettent d’éclaircir la technique de fragment…

Butor Mondrian manuscrits critique génétique fragmentation géométrisationSettore L-LIN/03 - Letteratura Francese
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Another Life

2013

Many writers started their professional lives in very diverse fields before embracing writing, or on the contrary have turned away from writing. The present volume seeks to explore the complex relationship between that ‘other life’ and writing. The aim is to determine whether a writer’s ‘other life’ appears in, influences or even shapes his/her work, and to what extent. What is the part of gestation and that of rupture? A diversity of writers is examined: Patrick Chamoiseau, J. M. Coetzee, Jan J. Dominique, Janet Frame, Amitav Ghosh, L. K. Johnson, Wilson Harris, Dany Laferrière, Yannick Lahens, NourbeSe Philip, Emmelie Prophète, Arundhati Roy, Edward Said, but also Bartolomé de las Casas a…

CaribbeanCritique génétique[SHS.ANTHRO-SE] Humanities and Social Sciences/Social Anthropology and ethnology[SHS.MUSIQ]Humanities and Social Sciences/Musicology and performing arts[SHS.LITT]Humanities and Social Sciences/LiteratureLittérature caribéenne[ SHS.MUSIQ ] Humanities and Social Sciences/Musicology and performing artsAnother Life[SHS.ANTHRO-SE]Humanities and Social Sciences/Social Anthropology and ethnology[ SHS.LITT ] Humanities and Social Sciences/LiteratureFred D'AguiarGenetic criticism[SHS.LITT] Humanities and Social Sciences/Literature[SHS.MUSIQ] Humanities and Social Sciences/Musicology and performing arts[ SHS.ANTHRO-SE ] Humanities and Social Sciences/Social Anthropology and ethnologyCaraïbePostcolonial literatureCyril DabydeenLittérature postcolonialeMarie-Célie AgnantCaribbean Literature
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Optimization of flat area coverage under connectivity constraint in wireless sensor networks

2022

A wireless sensor network consists of a set of small autonomous units that interact via a network built by their communication modules. They observe their environment, capture information, then manage this information according to their computing and/or storage capacity. To effectively accomplish their task(s), they need to cover as much of the area of interest as possible. It is therefore essential to quantify the quality of their coverage. In this thesis, we therefore seek to best cover an area of interest, with a precise number of sensors. While taking into account the possible overlaps between sensors, we first deploy in a zone of regular dimensions and evaluate the exact coverage using…

ConnectivityGenetic AlgorithmConnectivitéAlgorithme génétiqueInternet des objets[INFO.INFO-TS] Computer Science [cs]/Signal and Image ProcessingRéseaux de capteurs sans filInternet Of ThingsCouverture de zoneWireless sensor networksArea Coverage
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Les Fleurs bleues de Raymond Queneau : vers une entropie diégétique

2018

Les manuscrits des Fleurs Bleues nous permettent d'envisager le procédé de superposition bidimensionnelle qui alterne les espaces réel et onirique et de mieux distinguer son mécanisme d'organisation romanesque. Toutefois, le manuscrit de 1964 démontre une unité et une transparence diégétique qui ont été soumises à une révision afin d'obtenir une narration plus dynamique et une alternance diégétique plus complexe.

Critique Génétique Queneau Manuscrits modernesSettore L-LIN/03 - Letteratura Francese
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Génétique textuelle : approches croisées et études de cas

2023

"Génétique textuelle : approches croisées et études de cas" confronte, sur des oeuvres diverses, les acquis de la critique génétique telle qu'elle s'est développée et enrichie particulièrement en France depuis sa fondation d'obédience structuraliste et à distance des analyses issues de la tradition philologique italienne dans le fil de la « critique des variantes ». D'autre part, les différents articles offrent, à côté de corpus manuscrits déjà bien étudiés tels que Flaubert et Proust, des investigations sur des auteurs qui ne sont que rarement analysés dans le cadre d'études de genèse, qu'il s'agisse de Butor - dont on présente ici des manuscrits inédits - Némirovsky, Malraux ou Pavese.

Critique génétique Flaubert Proust Butor Némirovsky Malraux Pavese
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