Genetics of Pten Hamartoma Tumor Syndrome (PHTS)

Genetics of Pten Hamartoma Tumor Syndrome (PHTS) is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/978-3-211-69500-5_27

P2093author name stringCorrado Romano
P2860cites workDifferent splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTENQ57591094
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromesQ57591248
PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignanciesQ57591287
Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in miceQ58378937
PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathwayQ74404969
Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTENQ24322051
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseQ24322705
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathwayQ24532136
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsQ24673663
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndromeQ24675464
PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancerQ27860985
PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer modelQ28202775
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancersQ28306997
Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancersQ28393163
Pten is essential for embryonic development and tumour suppressionQ28509238
Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systemsQ28586004
The phosphatidylinositol 3-Kinase AKT pathway in human cancerQ29547860
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndromeQ29615538
PTEN/MMAC1/TEP1 suppresses the tumorigenicity and induces G1 cell cycle arrest in human glioblastoma cellsQ33586807
Germline PTEN mutations in Cowden syndrome-like families.Q33681468
Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in AdultsQ33905657
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeQ34504165
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.Q34742581
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.Q35250021
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposisQ35250337
Molecular neuro-oncology and development of targeted therapeutic strategies for brain tumors. Part 2: PI3K/Akt/PTEN, mTOR, SHH/PTCH and angiogenesisQ35641225
The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affectionsQ40273172
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisQ40770781
Form and function in protein dephosphorylationQ41193500
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entityQ44067197
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationQ45345194
P921main subjecthamartomaQ525075
P304page(s)483-489
P577publication date2008-01-01
P1476titleGenetics of Pten Hamartoma Tumor Syndrome (PHTS)