Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. (Q54356163)

28 May 2018

title

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. (English)

1 reference

28 May 2018

author

Thomas N. Darling

6

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28 May 2018

Meena Balasubramanian

12

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28 May 2018

Yanick J. Crow

16

1 reference

28 May 2018

Robert K Semple

30

1 reference

28 May 2018

Leslie G Biesecker

31

object named as

Leslie G Biesecker

1 reference

28 May 2018

PMCID

4320693

Kim M Keppler-Noreuil

1

object named as

Kim M Keppler-Noreuil

1 reference

28 May 2018

Julie C Sapp

2

1 reference

28 May 2018

Marjorie J Lindhurst

3

1 reference

28 May 2018

Victoria E R Parker

4

1 reference

28 May 2018

Cathy Blumhorst

5

1 reference

28 May 2018

Laura L Tosi

7

1 reference

28 May 2018

Susan M Huson

8

1 reference

28 May 2018

Richard W Whitehouse

9

1 reference

28 May 2018

Eveliina Jakkula

10

1 reference

28 May 2018

Ian Grant

11

1 reference

28 May 2018

Kate E Chandler

13

1 reference

28 May 2018

Jamie L Fraser

14

1 reference

28 May 2018

Zoran Gucev

15

1 reference

28 May 2018

Leslie Manace Brennan

17

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28 May 2018

Robin Clark

18

1 reference

28 May 2018

Elizabeth A Sellars

19

1 reference

28 May 2018

Loren D M Pena

20

1 reference

28 May 2018

Vidya Krishnamurty

21

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28 May 2018

Andrew Shuen

22

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28 May 2018

Nancy Braverman

23

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28 May 2018

Michael L Cunningham

24

1 reference

28 May 2018

V Reid Sutton

25

1 reference

28 May 2018

Velibor Tasic

26

1 reference

28 May 2018

John M Graham

27

1 reference

28 May 2018

Joseph Geer

28

1 reference

28 May 2018

Alex Henderson

29

1 reference

28 May 2018

language of work or name

English

0 references

publication date

29 April 2014

1 reference

28 May 2018

American Journal of Medical Genetics

published in

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28 May 2018

volume

164A

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28 May 2018

issue

7

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28 May 2018

page(s)

1713-1733

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28 May 2018

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Outcome impact of PIK3CA mutations in HER2-positive breast cancer patients treated with trastuzumab

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Novel AKT1-GLI3-VMP1 pathway mediates KRAS oncogene-induced autophagy in cancer cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Somatic activation of AKT3 causes hemispheric developmental brain malformations

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

An activating mutation of AKT2 and human hypoglycemia.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Next generation sequencing--implications for clinical practice

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Aberrant FGF signaling, independent of ectopic hedgehog signaling, initiates preaxial polydactyly in Dorking chickens

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

PI3K pathway alterations in cancer: variations on a theme

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Rapamycin treatment for a child with germline PTEN mutation

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

The challenges of Proteus syndrome: diagnosis and management

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Increasing Fgf4 expression in the mouse limb bud causes polysyndactyly and rescues the skeletal defects that result from loss of Fgf8 function

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Functional analysis of PIK3CA gene mutations in human colorectal cancer

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Mutations of PIK3CA in gastric adenocarcinoma

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

High frequency of mutations of the PIK3CA gene in human cancers

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Role of Akt/protein kinase B in metabolism.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

The phosphatidylinositol 3-Kinase AKT pathway in human cancer

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Aspirin extends life of some patients with colorectal cancer

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Aspirin, PIK3CA mutation, and colorectal-cancer survival

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

The prevalence of PIK3CA mutations in gastric and colon cancer.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Frequent mutation of the PIK3CA gene in ovarian and breast cancers.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320693

Klippel-Trenaunay syndrome

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24782230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation of the PIK3CA gene in ovarian and breast cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24782230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

More than just a big thumb

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24782230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36552

1 reference

28 May 2018

PMCID

4320693

1 reference

28 May 2018

PubMed ID

24782230

1 reference

28 May 2018