A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation (Q22009561)

central nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

7

Jean-Louis Mandel

Jean-Louis

Mandel

1 reference

31 August 2022

J Gecz

6

Jozef

Gecz

1 reference

31 August 2022

K Merienne

1

Karine

Merienne

1 reference

31 August 2022

S Jacquot

2

Sylvie

Jacquot

1 reference

31 August 2022

S Pannetier

3

Solange

Pannetier

1 reference

31 August 2022

M Zeniou

4

Maria

Zeniou

1 reference

31 August 2022

A Bankier

5

Agnes

Bankier

1 reference

31 August 2022

J Mulley

8

John

Mulley

1 reference

31 August 2022

P Sassone-Corsi

9

Paolo

Sassone-Corsi

1 reference

31 August 2022

A Hanauer

10

André

Hanauer

1 reference

31 August 2022

language of work or name

English

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publication date

May 1999

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published in

Nature Genetics

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volume

22

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issue

1

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page(s)

13-4

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cites work

XLMR genes: update 1996.

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Identification of serine 380 as the major site of autophosphorylation of Xenopus pp90rsk

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Identification of regulatory phosphorylation sites in mitogen-activated protein kinase (MAPK)-activated protein kinase-1a/p90rsk that are inducible by MAPK

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3

1 reference

https://api.crossref.org/works/10.1038%2F8719

7 January 2021

Identifiers

DOI

10.1038/8719

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