Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (Q24632718)

25

0 references

Felicity Payne

3

0 references

Matthijs P Groeneveld

Matthijs P Groeneveld

9

0 references

Timothy Helliwell

Timothy Helliwell

21

0 references

Thomas N. Darling

Thomas N Darling

15

0 references

Robert K Semple

Robert K Semple

27

0 references

David B Savage

David B Savage

23

0 references

Stephen O'Rahilly

Stephen O'Rahilly

22

0 references

Leslie G Biesecker

26

Leslie G Biesecker

0 references

Christos Tziotzios

Christos Tziotzios

19

0 references

Michael Wakelam

24

Michael J O Wakelam

0 references

author name string

Marjorie J Lindhurst

1

0 references

Victoria E R Parker

2

0 references

Julie C Sapp

4

0 references

Simon Rudge

5

0 references

Julie Harris

6

0 references

Alison M Witkowski

7

0 references

Qifeng Zhang

8

0 references

Carol E Scott

10

0 references

Allan Daly

11

0 references

Susan M Huson

12

0 references

Laura L Tosi

13

0 references

Michael L Cunningham

14

0 references

Joseph Geer

16

0 references

Zoran Gucev

17

0 references

V Reid Sutton

18

0 references

Adrian K Dixon

Assessment and management of the orthopedic and other complications of Proteus syndrome

20

0 references

language of work or name

English

0 references

publication date

August 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

issue

8

0 references

page(s)

928-33

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

A map of human genome variation from population-scale sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

A frequent kinase domain mutation that changes the interaction between PI3K and the membrane

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

High frequency of mutations of the PIK3CA gene in human cancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Growth retardation and increased apoptosis in mice with homozygous disruption of the Akt1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

PI3K pathway alterations in cancer: variations on a theme

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

An activating mutation of AKT2 and human hypoglycemia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Oncogenic PIK3CA-driven mammary tumors frequently recur via PI3K pathway-dependent and PI3K pathway-independent mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Next generation sequencing--implications for clinical practice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Quantification of PtdInsP3 molecular species in cells and tissues by mass spectrometry.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

PIK3CA mutations in in situ and invasive breast carcinomas

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

The group of epidermal nevus syndromes Part I. Well defined phenotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Overgrowth conditions: a diagnostic and therapeutic conundrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Rapamycin treatment for a child with germline PTEN mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic 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=3461408

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Signalling through Class I PI3Ks in mammalian cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

The challenges of Proteus syndrome: diagnosis and management

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Role of Akt/protein kinase B in metabolism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Somatic activation of AKT3 causes hemispheric developmental brain malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Luminal expression of PIK3CA mutant H1047R in the mammary gland induces heterogeneous tumors

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

PIK3CA mutation is an early event in the development of endometriosis-associated ovarian clear cell adenocarcinoma.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

A proposal for classification of entities combining vascular malformations and deregulated growth.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Cooperation between Pik3ca and p53 mutations in mouse mammary tumor formation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3461408

Type 2 segmental Cowden disease vs. Proteus syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22729222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2332

1 reference

Dimensions Publication ID

2427674

1045971958

0 references

2427674

1 reference

1 reference

1 reference