Search results for "IkB"

showing 4 items of 4 documents

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

2016

International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such …

0301 basic medicineMalePathologyMethyl-CpG-Binding Protein 2[SDV]Life Sciences [q-bio]030105 genetics & heredityCorpus callosumLateral ventricles0302 clinical medicineGene DuplicationIKBKGFLNAChildGenetics (clinical)GeneticsBrain Diseasesmedicine.diagnostic_testMiddle AgedPrognosisMagnetic Resonance ImagingHypotonia3. Good healthPedigree[SDV] Life Sciences [q-bio]medicine.anatomical_structurePhenotypeXq28 duplicationChild PreschoolFemalemedicine.symptomAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesAdolescentGenotypeBiologygenotype-phenotype correlationWhite matter03 medical and health sciencesYoung AdultGeneticsmedicineHumansGenetic Association StudiesChromosomes Human X[ SDV ] Life Sciences [q-bio]Infant NewbornInfantMagnetic resonance imagingHyperintensitynervous system diseasesMental Retardation X-LinkedMECP2 gene030217 neurology & neurosurgeryAmerican journal of medical genetics. Part A
researchProduct

MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits

2015

Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well. 75 microRNAs predicted to regulate RGS2 were identified by four bioinformatic algorithms and validated experimentally by luciferase reporter gene assays. Specificity was confirmed for six microRNAs (hsa-miR-1271-5p, hsa-miR-22-3p, hsa-miR-3…

AdultMaleCandidate geneSingle-nucleotide polymorphismMIR4717ComorbidityBiologyBioinformaticsPolymorphism Single NucleotideCellular and Molecular NeuroscienceGenes ReporterRisk FactorsmedicineHumansIKBKEGenetic Predisposition to DiseaseAllelepanic disorderLuciferases3' Untranslated RegionsAgoraphobiaAllelesGenetic Association StudiesGenetics (clinical)miRNAGeneticsPanic disorderassociationComputational BiologyReproducibility of Resultsmedicine.diseaseAnxiety DisordersMicroRNAsPsychiatry and Mental healthGene Expression RegulationCase-Control StudiesLinear ModelsAnxiety sensitivityAnxietyFemalemedicine.symptomgene regulationRGS ProteinsAgoraphobiaAmerican Journal of Medical Genetics Part B-neuropsychiatric Genetics
researchProduct

Molecular Modeling and Dynamics of the transcriptionfactor NF-kB complexed with IkB

2009

IkBMolecular ModelingNF-kBMolecular DynamicsSettore CHIM/08 - Chimica Farmaceutica
researchProduct

Kontemplativ, handlingsrettet spiritualitet - Stille stund og ledelse i Oxfordbevegelsen belyst ved nedtegnelser fra Erling Wikborg

2014

Author's version of an article in the journal: Teologisk tidsskrift. Also available from the publisher at: http://www.idunn.no/tt/2014/04/kontemplativ_handlingsrettet_spiritualitet_-_stille_stund_ Contemplation and belief in guidance from God had a distinct design in the international ecumenical revival the Oxford Group which gained great support in the interwar period. In this movement, contemplation, called quiet time, was focused on intention and action in order to grasp and carry out God’s guidance. The article examines teaching about and practice of quiet time and guidance in the Oxford Group and shows how these phenomena relate to a broader historical context within Christianity. Note…

The Oxford GroupPsychoanalysisVDP::Humanities: 000::History: 070ledelsekontemplasjonstille stundGeneral Medicinequiet timeErling WikborgspiritualityspiritualitetVDP::Humanities: 000::Theology and religious science: 150OxfordbevegelsencontemplationReligious studiesPsychologyguidanceTeologisk tidsskrift
researchProduct