(Q24539742)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Jean-Louis Mandel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

Jacquot S

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

De Cesare D

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Pannetier S

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Sassone-Corsi P

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Hanauer A

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

language of work or name

English

0 references

publication date

1 December 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

7 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

page(s)

1631-1640

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

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

7 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

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=1377634

Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

Evidence for two catalytically active kinase domains in pp90rsk

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

Signal transduction via the MAP kinases: proceed at your own RSK.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

A Xenopus ribosomal protein S6 kinase has two apparent kinase domains that are each similar to distinct protein kinases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

The Coffin-Lowry 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=1377634

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry 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=1377634

Coffin-Lowry syndrome: a multicenter study.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation 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=1377634

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

The Coffin-Lowry syndrome. Experience from four centres.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377634

Cardiac involvement in Coffin-Lowry syndrome

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837815

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A New Dominant Gene Mental Retardation Syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302153

inferred from DOI database lookup

7 January 2021

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%2F302153

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/302153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9837815%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference