(Q51046620)

27 March 2018

title

When overgrowth bumps into cancer: the PTEN-opathies. (English)

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27 March 2018

author

Charis Eng

series ordinal

2

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27 March 2018

author name string

Jessica Mester

series ordinal

1

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27 March 2018

publication date

1 May 2013

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27 March 2018

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

published in

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27 March 2018

volume

163C

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27 March 2018

issue

2

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27 March 2018

page(s)

114-121

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27 March 2018

Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

The challenges of Proteus syndrome: diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Monozygotic twins discordant for Proteus syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

The tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Cellular survival: a play in three Akts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Pten is essential for embryonic development and tumour suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Mechanism of action of the immunosuppressant rapamycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Growth suppression of glioma cells by PTEN requires a functional phosphatase catalytic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Management of arteriovenous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Tumor suppressor PTEN inhibits integrin- and growth factor-mediated mitogen-activated protein (MAP) kinase signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Cowden's disease. A possible new symptom complex with multiple system involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Brain magnetic resonance imaging in patients with Cowden syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Germline mutations in PTEN are present in Bannayan-Zonana syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Mutant AKT1 in Proteus syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

An inhibitor of mTOR reduces neoplasia and normalizes p70/S6 kinase activity in Pten+/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Reduction of Pten dose leads to neoplastic development in multiple organs of Pten (shRNA) mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Lifetime cancer risks in individuals with germline PTEN mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Arteriovenous malformations in Cowden syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

LKB1 is the upstream kinase in the AMP-activated protein kinase cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Localization of the gene for Cowden disease to chromosome 10q22–23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31364

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31364

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27 March 2018

1 reference

27 March 2018