When Overgrowth Bumps Into Cancer: The PTEN-Opathies

scientific article published on 09 April 2013

When Overgrowth Bumps Into Cancer: The PTEN-Opathies is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/J.1552-4876.2013.31364.X
P698PubMed publication ID23613428

P50authorCharis EngQ37385393
P2093author name stringJessica Mester
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Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationQ45345194
Germline mutations in PTEN are present in Bannayan-Zonana syndromeQ48046915
Brain magnetic resonance imaging in patients with Cowden syndromeQ48974595
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephalyQ50303516
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Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelQ22337253
The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphateQ24317714
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseQ24322705
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signalingQ24536092
A mosaic activating mutation in AKT1 associated with the Proteus syndromeQ24598593
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Germline mutation of the tumour suppressor PTEN in Proteus syndromeQ24672675
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsQ24673663
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PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancerQ27860985
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Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosisQ28211005
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancersQ28306997
Pten is essential for embryonic development and tumour suppressionQ28509238
Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTENQ28513537
LKB1 is the upstream kinase in the AMP-activated protein kinase cascadeQ28610414
Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathwayQ28646919
Cellular survival: a play in three AktsQ29547806
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndromeQ29615538
The tuberous sclerosis complexQ29619128
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 modelQ32069431
Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?Q33674349
An inhibitor of mTOR reduces neoplasia and normalizes p70/S6 kinase activity in Pten+/- miceQ33943166
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.Q34399395
Reduction of Pten dose leads to neoplastic development in multiple organs of Pten (shRNA) miceQ34479331
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeQ34504165
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 carriersQ34579796
Lifetime cancer risks in individuals with germline PTEN mutations.Q35681689
P577publication date2013-04-09
P1433published inAmerican Journal of Medical Genetics Part C: Seminars in Medical GeneticsQ15749239
P1476titleWhen Overgrowth Bumps Into Cancer: The PTEN-Opathies

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