Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway (Q39021335)

9 June 2018

review article

1 reference

title

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway (English)

1 reference

9 June 2018

author

Thomas N. Darling

series ordinal

5

1 reference

8 September 2017

3

Leslie G Biesecker

1 reference

9 June 2018

PMCID

5130114

Kim M Keppler-Noreuil

series ordinal

2

object named as

Kim M Keppler-Noreuil

1 reference

9 June 2018

4

Joel Moss

1 reference

9 June 2018

author name string

Neera Nathan

series ordinal

1

1 reference

9 June 2018

publication date

1 January 2017

1 reference

9 June 2018

published in

Dermatologic Clinics

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9 June 2018

volume

35

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9 June 2018

issue

1

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9 June 2018

page(s)

51-60

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9 June 2018

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

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17 June 2018

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Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

17 June 2018

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

17 June 2018

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Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus

17 June 2018

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Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

17 June 2018

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Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

17 June 2018

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Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology

17 June 2018

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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

17 June 2018

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17 June 2018

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The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis

17 June 2018

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Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.

17 June 2018

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Proteus syndrome: A rare cause of gigantic limb

17 June 2018

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A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation

17 June 2018

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Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.

17 June 2018

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

17 June 2018

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Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria

17 June 2018

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Cutaneous mosaicisms: concepts, patterns and classifications

17 June 2018

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Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

17 June 2018

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Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

17 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

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

17 June 2018

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A genomic view of mosaicism and human disease

17 June 2018

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When Overgrowth Bumps Into Cancer: The PTEN-Opathies

17 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

mTOR in aging, metabolism, and cancer

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

mTOR signaling in growth control and disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes

17 June 2018

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mTOR signaling in disease

17 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

17 June 2018

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Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences

17 June 2018

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Blaschko lines and other patterns of cutaneous mosaicism

17 June 2018

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The group of epidermal nevus syndromes Part II. Less well defined phenotypes

17 June 2018

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Genetics and molecular biology of tuberous sclerosis complex

17 June 2018

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Overgrowth conditions: a diagnostic and therapeutic conundrum

17 June 2018

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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

17 June 2018

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A complex interplay between Akt, TSC2 and the two mTOR complexes

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

The mTOR pathway and its role in human genetic diseases

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Unilateral facial angiofibromas without other evidence of tuberous sclerosis: case report and review of the literature.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Linear Cowden nevus: a new distinct epidermal nevus

17 June 2018

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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Oral findings in 58 adults with tuberous sclerosis complex

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

The challenges of Proteus syndrome: diagnosis and management

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Cancer-specific mutations in PIK3CA are oncogenic in vivo

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Cutaneous manifestations of proteus syndrome: correlations with general clinical severity

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

AKT1/PKBalpha kinase is frequently elevated in human cancers and its constitutive activation is required for oncogenic transformation in NIH3T3 cells

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

PTEN: life as a tumor suppressor

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Regulation of cellular growth by the Drosophila target of rapamycin dTOR

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

High rate of mosaicism in tuberous sclerosis complex

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity

17 June 2018

1 reference

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Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features

17 June 2018

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Mosaicism in human skin. Understanding the patterns and mechanisms

17 June 2018

1 reference

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The categories of cutaneous mosaicism: A proposed classification.

17 June 2018

1 reference

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Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

11 August 2018

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Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

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

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

11 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis.

11 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

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

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Evolution of skin lesions in Proteus syndrome

11 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

When overgrowth bumps into cancer: the PTEN-opathies.

11 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

15 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5130114

2 December 2018

1 reference

12 December 2020

PTEN mosaicism with features of Cowden syndrome

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12 December 2020

Type 2 segmental Cowden disease vs. Proteus syndrome

1 reference

12 December 2020

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

1 reference

12 December 2020

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

1 reference

12 December 2020

10.1016/J.DET.2016.07.001

Identifiers

DOI

1 reference

9 June 2018

PMCID

5130114

1 reference

9 June 2018

PubMed ID

27890237

1 reference

9 June 2018