Pierre Billuart
Billuart, Pierre, 19..-....
Billuart, Pierre
VIAF ID: 209234899 (Personal)
Permalink: http://viaf.org/viaf/209234899
Preferred Forms
- 100 1 _ ‡a Billuart, Pierre
- 100 1 _ ‡a Billuart, Pierre, ‡d 19..-....
- 100 0 _ ‡a Pierre Billuart
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
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IL-38 Ameliorates Skin Inflammation and Limits IL-17 Production from γδ T Cells | |
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. | |
Apport des modèles murins à la compréhension des maladies associées à des variations du nombre de copies : monosomie 21 partielle et délétions et duplications des régions 16p11.2 et 17q21.31 | |
Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome | |
Astroglial contribution to synaptophaties : the oligophrenin1 gene model. | |
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant. | |
Autophosphorylation-independent and -dependent functions of focal adhesion kinase during development | |
Caractérisation des fonctions du facteur de transcription Foxp2 dans le cortex murin. | |
Characterization of Foxp2 functions in the mouse cortex | |
A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα | |
Clonage du gène Rho-GAP MRX impliqué dans un retard mental non spécifique lié au chromosome X | |
Contribution of mouse models for understanding diseases associated with changes in the number of copies : 21 monosomy and partial deletions and duplications of the 16p11.2 region and 17q21.31. | |
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. | |
Deciphering the genetic basis of the autism-associated 16p11.2 micro-deletion syndrome and the impact of the Major Vault Protein in association with MAPKinase pathway on brain physiology | |
Deciphering the role of VPS13B in the central nervous system. | |
Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model | |
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22 | |
Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system | |
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. | |
Étude de la dysfonction du RhoGEF TRIO et son implication dans les troubles du neurodéveloppement | |
Etude génétique et fonctionnelle de CNTNAP2 | |
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability. | |
From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP. | |
From Genotype to Phenotype : Comparative Analysis of PAK3 Intellectual Disability Gene's Mutations. | |
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. | |
Genetic and functional study of CNTNAP2/Caspr2 in autism spectrum disorders | |
Génétique et physiopathologie du syndrome de Lowe, analyse des aspects neurologiques | |
Identification et manipulation d'interactions protéines - protéines codées par des gènes impliqués dans des synaptopathies | |
Identification of intellectual disability genes showing circadian clock-dependent expression in the mouse hippocampus. | |
Identifier le rôle de VPS13B dans le système nerveux central | |
IL1RAPL1 controls inhibitory networks during cerebellar development in mice | |
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation. | |
Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation | |
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family | |
Interactions neurogliales dans la déficience intellectuelle : étude du modèle oligophrénine-1 | |
Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway. | |
Localisation et identification de gènes impliqués dans les retards mentaux liés au chromosome X | |
Loss of Function of KCNC1 is associated with intellectual disability without seizures. | |
Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice. | |
Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. | |
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. | |
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. | |
A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis | |
Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions | |
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. | |
Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences | |
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells | |
Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells. | |
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation. | |
Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb | |
Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis. | |
Pathophysiological mechanisms of the cognitive deficit associated with mutations in the IL-1 receptor accessory protein like-1 gene. | |
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. | |
Protein Kinase A Deregulation in the Medial Prefrontal Cortex Impairs Working Memory in Murine Oligophrenin-1 Deficiency. | |
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse. | |
Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation. | |
Regulating axon branch stability: the role of p190 RhoGAP in repressing a retraction signaling pathway. | |
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function | |
The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain | |
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome | |
ROCK/PKA Inhibition Rescues Hippocampal Hyperexcitability and GABAergic Neuron Alterations in a Oligophrenin-1 Knock-Out Mouse Model of X-Linked Intellectual Disability | |
[A role for astrocytes in intellectual disabilities?] | |
Target-specific vulnerability of excitatory synapses leads to deficits in associative memory in a model of intellectual disorder. | |
Unraveling the impact of IL1RAPL1 mutations on synapse formation : towards potential therapies for intellectual disability | |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes | |
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. | |
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter. |