(Q49060228)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

10

1 reference

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Charlotte Kilstrup-Nielsen

7 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Nicoletta Landsberger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Sarah L Williamson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Laura Giudici

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Wendy Gold

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Gregory J Pelka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Patrick P L Tam

6

1 reference

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7 February 2020

Andrew Grimm

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Dionigio Prodi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

12 July 2011

1 reference

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7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21748340%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

2

1 reference

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7 February 2020

page(s)

187-200

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-011-1058-x

7 February 2020

exact match

0 references

cites work

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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

21 January 2018

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Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome

21 January 2018

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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

21 January 2018

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Evidence for both neuronal cell autonomous and nonautonomous effects of methyl-CpG-binding protein 2 in the cerebral cortex of female mice with Mecp2 mutation.

21 January 2018

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

21 January 2018

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A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

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CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

21 January 2018

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MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

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

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RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

21 January 2018

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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

21 January 2018

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

21 January 2018

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Early onset seizures and Rett-like features associated with mutations in CDKL5.

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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Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1.

21 January 2018

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

21 January 2018

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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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Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

21 January 2018

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Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

21 January 2018

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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

21 January 2018

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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

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CDKL5 disruption by t(X;18) in a girl with West syndrome

21 January 2018

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Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

21 January 2018

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A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1058-X

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

21 January 2018

1 reference

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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

21 January 2018

1 reference

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CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

21 January 2018

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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

21 January 2018

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21 January 2018

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21 January 2018

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

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Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

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

21 January 2018

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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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21 January 2018

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21 January 2018

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An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

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12 December 2020

Selective dendritic alterations in the cortex of Rett syndrome

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12 December 2020

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

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12 December 2020

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

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12 December 2020

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12 December 2020