Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. (Q51827365)

13 April 2018

title

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. (English)

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Nadia Bahi-Buisson

object named as

Nadia Bahi-Buisson

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author name string

Juliette Nectoux

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Yann Fichou

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Patrick Nusbaum

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Franck Letourneur

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Jamel Chelly

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Thierry Bienvenu

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publication date

24 November 2010

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Journal of Molecular Medicine

published in

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volume

89

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issue

2

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page(s)

193-202

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

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The three stages of epilepsy in patients with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

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CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling

21 January 2018

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Selective interactions between helix VIII of the human mu-opioid receptors and the C terminus of periplakin disrupt G protein activation

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CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

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The small GTP-binding protein Rac1 induces cardiac myocyte hypertrophy through the activation of apoptosis signal-regulating kinase 1 and nuclear factor-kappa B

21 January 2018

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

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Hyperactivity in novel environment with increased dopamine and impaired novelty preference in apoptosis signal-regulating kinase 1 (ASK1)-deficient mice.

21 January 2018

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CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

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Effects of filtering by Present call on analysis of microarray experiments

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Periplakin interferes with G protein activation by the melanin-concentrating hormone receptor-1 by binding to the proximal segment of the receptor C-terminal tail

21 January 2018

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Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

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CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

21 January 2018

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Apoptosis signal-regulating kinase 1 (ASK1) induces neuronal differentiation and survival of PC12 cells

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Involvement of ASK1 in Ca2+-induced p38 MAP kinase activation

21 January 2018

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

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MAPK cascade signalling and synaptic plasticity

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Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

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RNA interference by expression of short-interfering RNAs and hairpin RNAs in mammalian cells

21 January 2018

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Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

21 January 2018

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12 December 2020

Widespread monoallelic expression on human autosomes

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12 December 2020

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

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12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

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12 December 2020

Limit-dilution assay and clonal expansion of all T cells capable of proliferation

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12 December 2020

10.1007/S00109-010-0699-X

Identifiers

DOI

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13 April 2018

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13 April 2018