(Q34581217)

3 August 2017

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation (English)

1 reference

3 August 2017

Coffin-Lowry syndrome

1 reference

10

P A Futreal

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3 August 2017

8

J Teague

1 reference

3 August 2017

9

M R Stratton

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3 August 2017

11

R Wooster

1 reference

3 August 2017

M Field

1

1 reference

3 August 2017

P Tarpey

2

1 reference

3 August 2017

J Boyle

3

1 reference

3 August 2017

S Edkins

4

1 reference

3 August 2017

J Goodship

5

1 reference

3 August 2017

Y Luo

6

1 reference

3 August 2017

J Moon

7

1 reference

3 August 2017

F L Raymond

12

1 reference

3 August 2017

G Turner

13

1 reference

3 August 2017

1 December 2006

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3 August 2017

1 reference

3 August 2017

70

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3 August 2017

6

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3 August 2017

509-515

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Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Coffin-Lowry syndrome: clinical and molecular features

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

X-linked mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

The Coffin-Lowry syndrome. Experience from four centres.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2714973

10.1111/J.1399-0004.2006.00723.X

27 October 2018

Identifiers

DOI

1 reference

3 August 2017

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3 August 2017

1 reference