(Q22009561)

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

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

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Ribosomal protein S6 kinase A3

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GOA release 2020-03-11

central nervous system development

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GOA release 2020-03-11

Jean-Louis Mandel

7

object named as

Jean-Louis Mandel

author given names

Jean-Louis

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Mandel

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Dimensions Publication ID

31 August 2022

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J Gecz

6

author given names

Jozef

author last names

Gecz

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Dimensions Publication ID

31 August 2022

author name string

K Merienne

1

author given names

Karine

author last names

Merienne

1 reference

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31 August 2022

S Jacquot

2

author given names

Sylvie

author last names

Jacquot

1 reference

Dimensions Publication ID

31 August 2022

S Pannetier

3

author given names

Solange

author last names

Pannetier

1 reference

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31 August 2022

M Zeniou

4

author given names

Maria

author last names

Zeniou

1 reference

Dimensions Publication ID

31 August 2022

A Bankier

5

author given names

Agnes

author last names

Bankier

1 reference

Dimensions Publication ID

31 August 2022

J Mulley

8

author given names

John

author last names

Mulley

1 reference

Dimensions Publication ID

31 August 2022

P Sassone-Corsi

9

author given names

Paolo

author last names

Sassone-Corsi

1 reference

Dimensions Publication ID

31 August 2022

A Hanauer

10

author given names

André

author last names

Hanauer

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Dimensions Publication ID

31 August 2022

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publication date

May 1999

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Nature Genetics

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22

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1

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13-4

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XLMR genes: update 1996.

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of Regulatory Phosphorylation Sites in Mitogen-activated Protein Kinase (MAPK)-activated Protein Kinase-1a/p90 That Are Inducible by MAPK

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038/8719

7 January 2021

based on heuristic

inferred from DOI database lookup

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