Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation (Q24534159)

11

0 references

Jean-Pierre Fryns

8

0 references

Martine Raynaud

6

0 references

Jozef Gécz

10

0 references

Hilde Van Esch

2

0 references

Bettina Moser

5

0 references

Vera M. Kalscheuer

Vera M Kalscheuer

12

0 references

Jiong Tao

1

Jiong Tao

0 references

Eberhard Schwinger

9

Eberhard Schwinger

0 references

Kirsten Hoffmann

4

Kirsten Hoffmann

0 references

author name string

M Hagedorn-Greiwe

3

0 references

Jürgen Sperner

American Journal of Human Genetics

7

0 references

language of work or name

English

0 references

publication date

December 2004

0 references

published in

0 references

volume

75

0 references

issue

6

0 references

page(s)

1149-54

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Identification of NKIAMRE, the human homologue to the mitogen-activated protein kinase-/cyclin-dependent kinase-related protein kinase NKIATRE, and its loss in leukemic blasts with chromosome arm 5q deletion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Structural basis of cyclin-dependent kinase activation by phosphorylation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Identification of MeCP2 mutations in a series of females with autistic disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Activation mechanism of the MAP kinase ERK2 by dual phosphorylation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

The clinical pattern of the Rett syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Atypical forms of Rett syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Rett syndrome: clinical manifestations in males with MECP2 mutations.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

In-frame deletion inMECP2 causes mild nonspecific mental retardation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

MECP2 is highly mutated in X-linked mental retardation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Rett variants: a suggested model for inclusion criteria.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

The distribution and biochemical properties of a Cdc2-related kinase, KKIALRE, in normal and Alzheimer brains.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182152

Two affected boys in a Rett syndrome family: clinical and molecular findings

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15499549

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15499549

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F426460

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/426460

1 reference

704113

704113

1 reference

1 reference

1 reference