PTENHamartoma Tumor Syndrome

PTENHamartoma Tumor Syndrome is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/9780470893159.CH44

P50authorCharis EngQ37385393
P2093author name stringEmily Edelman
P2860cites workP-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
Protean PTEN: form and functionQ24613810
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
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndromeQ24675464
Will the real Cowden syndrome please stand up: revised diagnostic criteriaQ24681567
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane associationQ27620298
Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.Q27824772
A serine/threonine kinase gene defective in Peutz-Jeghers syndromeQ28119198
Altered PTEN expression as a diagnostic marker for the earliest endometrial precancersQ28145813
Cowden's disease. A possible new symptom complex with multiple system involvementQ28189705
PTEN: one gene, many syndromesQ28203387
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinaseQ28258611
Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancerQ28260081
Macrocephaly with multiple lipomas and hemangiomasQ28269372
Cancer phenomics: RET and PTEN as illustrative modelsQ28278854
Rapamycin causes regression of astrocytomas in tuberous sclerosis complexQ28295149
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammographyQ28295438
Male breast cancer in Cowden syndrome patients with germline PTEN mutationsQ28359884
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndromeQ29615538
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosisQ31533805
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluationQ33653132
Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?Q33674349
Germline PTEN mutations in Cowden syndrome-like families.Q33681468
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotypeQ33681476
Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in AdultsQ33905657
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosisQ34009330
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromesQ34020502
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeQ34504165
Hamartomatous polyposis syndromes.Q34582357
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesQ34658313
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.Q34658356
Macrocephaly with hamartomas: Bannayan-Zonana syndromeQ34710839
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.Q34742581
PTEN hamartoma tumor syndromes.Q34824223
American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer SusceptibilityQ35105968
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review.Q35805511
Cutaneous manifestations of proteus syndrome: correlations with general clinical severityQ35864499
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephalyQ36053966
Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translationQ36430799
Genetic testing in autism: how much is enough?Q36823411
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.Q37270416
Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndromeQ38304010
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
The hamartomatous polyposis syndromes: clinical and radiologic featuresQ40597896
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisQ40770781
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypesQ41078007
The dermatopathology of Cowden's syndrome*Q41724692
PTEN mutations are uncommon in Proteus syndrome.Q43045274
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and managementQ43232449
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationQ45345194
Mutations in the SMAD4/DPC4 gene in juvenile polyposisQ45345229
Germline mutations in PTEN are present in Bannayan-Zonana syndromeQ48046915
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.Q51990523
Lhermitte-Duclos Disease in 3 Children: A Clinical Long-Term ObservationQ53655103
Proteus syndrome: Misdiagnosis with PTEN mutationsQ55037807
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.Q55039065
Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic PolyposisQ57567716
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromesQ57591248
Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
P304page(s)661-675
P577publication date2010-05-17
P1476titlePTENHamartoma Tumor Syndrome

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