Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
about
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardationCDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeDisruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationGenomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailRett syndrome: clinical review and genetic updateWhat we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyPalmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine developmentMolecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.T-cell tropism and the role of ORF66 protein in pathogenesis of varicella-zoster virus infectionRefinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.ORF66 protein kinase function is required for T-cell tropism of varicella-zoster virus in vivoExtrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation.CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsCAGE-defined promoter regions of the genes implicated in Rett Syndrome.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Characterisation of CDKL5 Transcript Isoforms in Human and MousePEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex.CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice.CDKL5 localizes at the centrosome and midbody and is required for faithful cell division.Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors.A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory.CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.
P2860
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P2860
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Identification and characteriz ...... nase gene from the Xp22 region
@ast
Identification and characteriz ...... nase gene from the Xp22 region
@en
Identification and characteriz ...... nase gene from the Xp22 region
@en-gb
Identification and characteriz ...... nase gene from the Xp22 region
@nl
type
label
Identification and characteriz ...... nase gene from the Xp22 region
@ast
Identification and characteriz ...... nase gene from the Xp22 region
@en
Identification and characteriz ...... nase gene from the Xp22 region
@en-gb
Identification and characteriz ...... nase gene from the Xp22 region
@nl
prefLabel
Identification and characteriz ...... nase gene from the Xp22 region
@ast
Identification and characteriz ...... nase gene from the Xp22 region
@en
Identification and characteriz ...... nase gene from the Xp22 region
@en-gb
Identification and characteriz ...... nase gene from the Xp22 region
@nl
P2093
P50
P3181
P356
P1433
P1476
Identification and characteriz ...... nase gene from the Xp22 region
@en
P2093
P304
P3181
P356
10.1006/GENO.1998.5391
P407
P577
1998-08-01T00:00:00Z