CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome (Q24303656)

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12 January 2020

title

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

1 reference

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Cyclin dependent kinase like 5

12 January 2020

main subject

Rett syndrome

0 references

1 reference

GOA release 2020-03-11

kinase activity

1 reference

Cyclin-dependent kinase-like 5

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

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12 January 2020

Ilaria Bertani

3

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12 January 2020

Francesca Ariani

11

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12 January 2020

Joussef Hayek

12

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12 January 2020

Vania Broccoli

17

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Alessandra Renieri

18

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Charlotte Kilstrup-Nielsen

12 January 2020

19

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Nicoletta Landsberger

20

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7

Elisa Scala

1 reference

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12 January 2020

author name string

Sara Azimonti

2

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12 January 2020

Fabrizio Bolognese

4

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12 January 2020

Elena Colombo

5

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12 January 2020

Rossella Caselli

6

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12 January 2020

Ilaria Longo

8

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12 January 2020

Salvatore Grosso

9

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Chiara Pescucci

10

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12 January 2020

Paolo Balestri

13

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12 January 2020

Anna Bergo

14

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12 January 2020

Gianfranco Badaracco

15

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12 January 2020

Michele Zappella

16

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12 January 2020

language of work or name

English

0 references

publication date

25 May 2005

1 reference

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12 January 2020

published in

Human Molecular Genetics

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volume

14

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12 January 2020

issue

14

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12 January 2020

page(s)

1935-1946

1 reference

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

12 January 2020

cites work

1 reference

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls

21 January 2018

1 reference

Clinical manifestations and stages of Rett syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

Rett syndrome: the complex nature of a monogenic disease

21 January 2018

1 reference

Preserved speech variants of the Rett syndrome: molecular and clinical analysis

21 January 2018

1 reference

Study of MECP2 gene in Rett syndrome variants and autistic girls.

21 January 2018

1 reference

Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

1 reference

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

1 reference

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

1 reference

MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery

21 January 2018

1 reference

Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation

21 January 2018

1 reference

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

21 January 2018

1 reference

DNA methylation and chromatin modification.

21 January 2018

1 reference

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

21 January 2018

1 reference

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

21 January 2018

1 reference

A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

21 January 2018

1 reference

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

1 reference

DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

21 January 2018

1 reference

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

21 January 2018

1 reference

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

21 January 2018

1 reference

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

1 reference

Citron rho-interacting kinase, a novel tissue-specific ser/thr kinase encompassing the Rho-Rac-binding protein Citron

21 January 2018

1 reference

Rett variants: a suggested model for inclusion criteria

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

21 January 2018

1 reference

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

21 January 2018

1 reference

Direct association between PU.1 and MeCP2 that recruits mSin3A-HDAC complex for PU.1-mediated transcriptional repression

21 January 2018

1 reference

A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

21 January 2018

1 reference

Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1093/HMG/DDI198

2 references

Consolidated OpenCitations Corpus – April 2017

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12 January 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017