Search results for " Organogenesis"

showing 7 items of 7 documents

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated acti…

2021

International audience; Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, with p.Arg87 substitutions in the majority.Methods: We assembled data from 19 newly identified and all 18 previously published individuals with CYFIP2 variants. By structural modeling and investigation of WAVE-regulatory complex (WRC)-mediated actin polymerization in six patient fibroblast lines we assessed the impact of CYFIP2 variants on the WRC.Results: Sixteen of 19 individuals harbor two previously described and 11 novel (likely) disease-ass…

0301 basic medicine[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyWAVEregulatory complex (WRC)030105 genetics & heredityBiologyArticleIntellectual disability; Epilepsy; CYFIP2; WAVE-regulatory complex (WRC); WASF03 medical and health sciencesNeurodevelopmental disorderSeizuresWAVE-regulatory complex (WRC)medicineCYFIP2Missense mutationHumansGenetics(clinical)WASFGeneGenetics (clinical)ActinAdaptor Proteins Signal TransducingGenetics/dk/atira/pure/subjectarea/asjc/2700/2716medicine.diseaseActin cytoskeletonPhenotypeHypotoniaActins3. Good healthddc:030104 developmental biology[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and OrganogenesisNeurodevelopmental Disordersintellectual disabilityCYFIP2epilepsymedicine.symptom
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Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

2020

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Oskyddad (Osy)—a human ABCA12 paralog—contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Osy function provokes rapid desiccation. Osy is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Osy activity is reduced. …

Cancer ResearchLife CyclesEmbryologyMutantCell MembranesATP-binding cassette transporterQH426-470Biochemistry0302 clinical medicineLarvaeAnimal WingsLoss of Function MutationMedicine and Health SciencesDrosophila ProteinsAnimal AnatomyGenetics (clinical)Barrier functionSkin0303 health sciencesbiologyDrosophila MelanogasterEukaryotaAnimal ModelsHarlequin IchthyosisLipidsCell biologyInsectsExperimental Organism SystemsEmbryology and OrganogenesisDrosophilaDrosophila melanogasterCellular Structures and OrganellesAnatomyIntegumentary SystemEmbryologie et organogenèseDrosophila ProteinAutre (Sciences du Vivant)Research Article[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]ArthropodaResearch and Analysis Methods03 medical and health sciencesModel OrganismsExtracellularGeneticsAnimalsABCA12DesiccationMolecular BiologyEcology Evolution Behavior and Systematics030304 developmental biologyEmbryosfungiOrganismsBiology and Life SciencesCell Biologybiology.organism_classificationInvertebrates[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesisbiology.proteinAnimal StudiesATP-Binding Cassette TransportersEpidermisZoology030217 neurology & neurosurgeryIchthyosis LamellarDevelopmental BiologyPLoS Genetics
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IN-VITRO REGENERATION OF CALENDULA MARITIMA GUSS. (ASTERACEAE), A THREATENED PLANT ENDEMIC TO WESTERN SICILY

2016

Calendula maritima is a critically endangered endemic plant of Western Sicily. Besides habitat destruction, the hybridization with the contiguous congener species C. fulgida is a major threat to its conservation. For this reason, seed-based propagation and seed storage are not appropriate for conservation purposes. In the present paper we describe a rapid and prolific in vitro plant regeneration method by direct organogenesis from leaves of C. maritima. Leaf explants were cultured on solid Murashige and Skoog (MS) medium in the presence of several plant growth regulator combinations. The best shoot multiplication rate (2.5 shoots/explant) was obtained on the medium containing 4.4 µM 6-benzy…

Endangered species Ex situ conservation Organogenesis Plant regenerationSettore BIO/03 - Botanica Ambientale E ApplicataSettore BIO/04 - Fisiologia Vegetale
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Citrus biotechnology

2020

Agricultural crops that can better withstand the changing climatic and pathogen landscape have been produced through natural selection throughout the millennia and, in recent years, through the process of human-assisted plant breeding and selection. However, a lack of genetic diversity in many commercially cultivated crops (due to monoculture) has made them more vulnerable to biotic and abiotic stresses (Esquinas-Alcazar, 2005; Keneni et al., 2012). Citrus, belonging to the Rutaceae family, is one of the most important commercial woody fruit crops in the tropical and subtropical areas of the world. The origin of citrus is traced back to parts of tropical and subtropical Southeast Asia (Wu e…

Settore AGR/03 - Arboricoltura Generale E Coltivazioni ArboreeMicropropagation Organogenesis and rooting Gametic embryogenesisSomaclonal variation Allotetraploids via somatic hybridization Somatic cybridization Molecular marker development for Alternaria brown spot disease Reducing juvenility via viral vectors Genetic transformation of citrus Direct DNA incorporation into citrus Protoplast transformation Particle bombardment/biolistics Agrobacterium-mediated transformation of citrus CRISPR gene editing
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Direct Organogenesis from Cotyledons in Cultivars of Citrus clementina Hort. ex Tan

2011

An efficient protocol to induce shoot buds regeneration in Citrus clementina cultivars (“Monreal”, “SRA 63” and “SRA 64”) by direct organogenesis has been developed using cotyledons as explants. Cotyledons transversely cut in three segments and entire ones were cultured on Murashige and Skoog (1962) solidified medium containing vitamins, 500 mg·l−1 malt extract, 50 g·l−1 sucrose and supplemented with three different concentrations of BAP (8.8, 13.2 and 17.6 μM). In all three cultivars the entire cotyledons showed more shoot morphogenic potential than transversely cut ones and after 60 incubation days the optimum BAP concentration was 17.6 μM in “Monreal” (50% ± 2.89% of frequency regenerati…

SucroseOrganogenesisGeneral MedicineBiologyAcclimatizationSettore BIO/01 - Botanica Generalechemistry.chemical_compoundHorticultureTissue culturechemistryBotanyShootCitrus clementina Cotyledons Direct Organogenesis Plant Regeneration Tissue CultureCultivarIncubationExplant culture
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The multiple facets of Cajal-Retzius neurons.

2021

ABSTRACTCajal-Retzius neurons (CRs) are among the first-born neurons in the developing cortex of reptiles, birds and mammals, including humans. The peculiarity of CRs lies in the fact they are initially embedded into the immature neuronal network before being almost completely eliminated by cell death at the end of cortical development. CRs are best known for controlling the migration of glutamatergic neurons and the formation of cortical layers through the secretion of the glycoprotein reelin. However, they have been shown to play numerous additional key roles at many steps of cortical development, spanning from patterning and sizing functional areas to synaptogenesis. The use of genetic l…

[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyCell Adhesion Molecules NeuronalNeurogenesisSynaptogenesisHippocampusNerve Tissue Proteins[SDV.BC.IC] Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]BiologyDevelopmentMolecular heterogeneityHippocampusCajal-Retzius neurons03 medical and health sciencesGlutamatergicMolecular profiling0302 clinical medicineCortex (anatomy)[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]Biological neural networkmedicineotorhinolaryngologic diseasesAnimalsHumansReelinMolecular Biology030304 developmental biologyCerebral CortexNeurons0303 health sciencesExtracellular Matrix ProteinsCell DeathSerine Endopeptidases[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology[SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and OrganogenesisReelin Proteinmedicine.anatomical_structure[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesisbiology.proteinCortexIdentification (biology)TranscriptomeNeuroscience030217 neurology & neurosurgerySingle-cell transcriptomicsDevelopmental BiologyDevelopment (Cambridge, England)
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Heat shock factor 2 is a stress-responsive mediator of neuronal migration defects in models of fetal alcohol syndrome

2014

Fetal alcohol spectrum disorder (FASD) is a frequent cause of mental retardation. However, the molecular mechanisms underlying brain development defects induced by maternal alcohol consumption during pregnancy are unclear. We used normal and Hsf2-deficient mice and cell systems to uncover a pivotal role for heat shock factor 2 (HSF2) in radial neuronal migration defects in the cortex, a hallmark of fetal alcohol exposure. Upon fetal alcohol exposure, HSF2 is essential for the triggering of HSF1 activation, which is accompanied by distinctive post-translational modifications, and HSF2 steers the formation of atypical alcohol-specific HSF1–HSF2 heterocomplexes. This perturbs the in vivo bindi…

[SDV]Life Sciences [q-bio][SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyMice0302 clinical medicineradial neuronal migrationHeat Shock Transcription FactorsHSF1[SDV.BDD]Life Sciences [q-bio]/Development BiologyResearch ArticlesHeat-Shock ProteinsComputingMilieux_MISCELLANEOUSRegulation of gene expressionCerebral CortexMice Knockout0303 health sciences[SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and OrganogenesisCell biologyheat shock factorsDNA-Binding Proteins[SDV.TOX] Life Sciences [q-bio]/Toxicologymedicine.anatomical_structureCerebral cortexFetal Alcohol Spectrum Disorders[SDV.TOX]Life Sciences [q-bio]/Toxicology[ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyMolecular MedicinetranscriptionProtein BindingDoublecortin ProteinFetal alcohol syndromeBiology03 medical and health sciencesMediatorStress PhysiologicalHeat shock protein[SDV.BDD] Life Sciences [q-bio]/Development BiologymedicineAnimals[ SDV.BDD ] Life Sciences [q-bio]/Development Biologymicrotubule‐associated proteinsTranscription factor030304 developmental biologymicrotubule-associated proteins[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiologymedicine.diseaseHeat shock factorDisease Models Animal[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and OrganogenesisGene Expression RegulationImmunologyfetal alcohol syndrome030217 neurology & neurosurgeryMalformations of Cortical Development Group IITranscription FactorsNeuroscience
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