Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. - Wikidata - awgldk - TriplyDB

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

http://www.wikidata.org/entity/Q30487790

about

Identification of new epilepsy treatments: issues in preclinical methodology Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development Dlx5 and Dlx6 regulate the development of parvalbumin-expressing cortical interneurons.Genes and brain malformations associated with abnormal neuron positioning Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Basic mechanisms of catastrophic epilepsy -- overview from animal models Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations.Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies Common transcriptional mechanisms for visual photoreceptor cell differentiation among Pancrustaceans A toolbox for spatiotemporal analysis of voltage-sensitive dye imaging data in brain slices Arx is required for normal enteroendocrine cell development in mice and humans A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment A model of symptomatic infantile spasms syndrome Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome.Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Arx is required for specification of the zona incerta and reticular nucleus of the thalamus.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Molecular genetics of neuronal migration disorders.Epilepsy genetics--past, present, and future Regulation of histone H3K4 methylation in brain development and disease.Glucagon deficiency reduces hepatic glucose production and improves glucose tolerance in adult mice.Developing an animal model for infantile spasms: pathogenesis, problems and progress.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.NPAS1 represses the generation of specific subtypes of cortical interneurons The promise of an interneuron-based cell therapy for epilepsy Deletion of Dlx1 results in reduced glutamatergic input to hippocampal interneurons.GABAB receptors in maintenance of neocortical circuit function.Altered GABA signaling in early life epilepsies.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders Carisbamate acutely suppresses spasms in a rat model of symptomatic infantile spasms Hyper-excitability and epilepsy generated by chronic early-life stress.Nkx2.2 repressor complex regulates islet β-cell specification and prevents β-to-α-cell reprogramming.Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Genomic perspectives of transcriptional regulation in forebrain development.Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.Epilepsy as a neurodevelopmental disorder.Developmental interneuron subtype deficits after targeted loss of Arx Estradiol does not affect spasms in the betamethasone-NMDA rat model of infantile spasms.

P2860

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P2860

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

http://www.wikidata.org/entity/Q30487790

description

2009 nî lūn-bûn

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2009 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2009 թվականի մայիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Targeted loss of Arx results i ...... otype in heterozygous females.

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Targeted loss of Arx results i ...... otype in heterozygous females.

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Amy Brooks-Kayal

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Carl Fulp

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Eric Marsh

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Ernest Gomez

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Grazia Mancini

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Ilya Nasrallah

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Jeffrey A Golden

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Jeremy Minarcik

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Jyotsna Sudi

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Patricia Labosky

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P2860

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

Modification of seizure activity by electrical stimulation. II. Motor seizure

Lis1 is necessary for normal non-radial migration of inhibitory interneurons

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

Stressed-out, or in (utero)?

P304

1563-1576

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scholarly article

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10.1093/BRAIN/AWP107

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P433

Pt 6

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P478

132

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William B. Dobyns

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2009-05-12T00:00:00Z

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24424656

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19439424

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2685924

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