Search results for "Formations"
showing 10 items of 680 documents
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
2018
Symposium issue: Human Cortex Developmentidentifiant wos: 000482426800014; International audience; The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1,…
Post-tilleyite, a dense calcium silicate-carbonate phase
2019
Scientific reports 9(1), 7898 (2019). doi:10.1038/s41598-019-44326-9
Kinetic evidence for interaction of TMPyP4 with two different G-quadruplex conformations of human telomeric DNA
2018
Background: Stabilization of G-quadruplex helices by small ligands has attracted growing attention because they inhibit the activity of the enzyme telomerase, which is overexpressed in> 80% cancer cells. TMPyP4, one of the most studied G-quadruplex ligands, is used as a model to show that the ligands can exhibit different binding features with different conformations of a human telomeric specific sequence. Methods: UV–Vis, FRET melting Assay, Isothermal Titration Calorimetry, Time-resolved Fluorescence lifetime, T-Jump and Molecular Dynamics. Results: TMPyP4 yields two different complexes with two Tel22 telomeric conformations in the presence of Na+ or K+. T-Jump kinetic experiments show th…
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation
2020
Abstract The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received compassionate off-label treatment with everolimus for refractory epilepsy. This 12-year-old-girl presented with psychomotor regression, intractable seizures, hypopigmentation along Blaschko's lines (hypomelanosis of Ito), asymmetric regional body overgrowth, and ocular anomali…
Models of cortical malformation--Chemical and physical.
2015
Abstract Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model caus…
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
2016
International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…
RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid-Mediated Autoinflammation
2018
Aicardi-Goutières syndrome (AGS) is a rare early onset childhood encephalopathy caused by persistent neuroinflammation of autoimmune origin. AGS is a genetic disorder and >50% of affected individuals bear hypomorphic mutations in ribonuclease H2 (RNase H2). All available RNase H2 mouse models so far fail to mimic the prominent CNS involvement seen in AGS. To establish a mouse model recapitulating the human disease, we deleted RNase H2 specifically in the brain, the most severely affected organ in AGS. Although RNase H2δGFAPmice lacked the nuclease in astrocytes and a majority of neurons, no disease signs were apparent in these animals. We additionally confirmed these results…
Did you hear? Auditory prospective memory cues are more beneficial for autistic than for non-autistic children and adolescents
2021
Item does not contain fulltext Background: The transition from primary to secondary school is particularly difficult for autistic children, a transition underpinned by an increase in prospective memory (PM) demands. Aims: To better understand PM in autistic children of the relevant age range and its underlying processes, the current study investigated the impact of cue salience (distinctiveness) on PM in autistic and non-autistic children and adolescents. The study was unique in manipulating the visual and auditory salience of PM cues. Salient cues are assumed to put lower demands on executive control resources as compared to cues that blend in with the ongoing activity. Methods and procedu…
Optimizing Query Perturbations to Enhance Shape Retrieval
2020
3D Shape retrieval algorithms use shape descriptors to identify shapes in a database that are the most similar to a given key shape, called the query. Many shape descriptors are known but none is perfect. Therefore, the common approach in building 3D Shape retrieval tools is to combine several descriptors with some fusion rule. This article proposes an orthogonal approach. The query is improved with a Genetic Algorithm. The latter makes evolve a population of perturbed copies of the query, called clones. The best clone is the closest to its closest shapes in the database, for a given shape descriptor. Experimental results show that improving the query also improves the precision and complet…
Breaking the Dominance of Dominant Voices: How the Therapist Promotes Assimilation by Facilitating Dialogue with the Client’s Problematic Voices
2019
Assimilation requires a dialogue between the client’s dominant and non-dominant internal voices, that is between the client’s usual self and his or her problematic experiences. This dialogue is est...