Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. (Q35924047)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Anna Zachariou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Anna Elliott

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

13

Elise Ruark

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

5

Anthony Renwick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

10

McKinlay Gardner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Chey Loveday

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Katrina Tatton-Brown

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Matthew Clarke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Isaac Westwood

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Emma Ramsay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Jennifer Campbell

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Shelagh Joss

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Rob van Montfort

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Childhood Overgrowth Collaboration

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Andrea Nemeth

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

1 reference

13 May 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

4775-4779

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

A framework for the interpretation of de novo mutation in human disease

8 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Phosphatase: PP2A structural importance, regulation and its aberrant expression in cancer.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Presenting your structures: the CCP4mg molecular-graphics software

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Structure and function of the PP2A-shugoshin interaction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Large-scale discovery of novel genetic causes of developmental disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

When overgrowth bumps into cancer: the PTEN-opathies.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Molecular mechanisms of childhood overgrowth

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Clk2 and B56β mediate insulin-regulated assembly of the PP2A phosphatase holoenzyme complex on Akt.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

Inhibition of B56-containing protein phosphatase 2As by the early response gene IEX-1 leads to control of Akt activity

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4527483

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25972378

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

release_ovlyuyw3frc6tmkd3kwjjdludi

8 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ovlyuyw3frc6tmkd3kwjjdludi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25972378%20AND%20SRC:MED&resulttype=core&format=json