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 pathway - Wikidata - awgldk - TriplyDB

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 pathway

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 pathway

http://www.wikidata.org/entity/Q24532136

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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes PTEN function: how normal cells control it and tumour cells lose it A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes Hamartomatous polyposis syndromes Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer Combined PDGFR and HDAC Inhibition Overcomes PTEN Disruption in Chordoma Genetic testing for hereditary colorectal cancer.Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.Clinical management of hereditary breast cancer syndromes.Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.PTEN transcript variants caused by illegitimate splicing in "aged" blood samples and EBV-transformed cell lines.Elevation of methylated DNA in KILLIN/PTEN in the plasma of patients with thyroid and/or breast cancer 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.Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.Frequency of germline PTEN mutations in differentiated thyroid cancer.PTEN hamartoma tumor syndrome: an overview.Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients.Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations Deconvoluting mTOR biology Variants on the promoter region of PTEN affect breast cancer progression and patient survival.Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.Differential Requirement for Pten Lipid and Protein Phosphatase Activity during Zebrafish Embryonic Development.PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.ATP modulates PTEN subcellular localization in multiple cancer cell lines.A novel PTEN gene promoter mutation and untypical Cowden syndrome.

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P2860

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 pathway

http://www.wikidata.org/entity/Q24532136

description

2003 nî lūn-bûn

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2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հուլիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Germline PTEN promoter mutatio ...... oinositol-3-kinase/Akt pathway

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Annette Patterson

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Cindy Bos

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Donna Russo

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Ellen Matloff

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Gerald L Feldman

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Heather Hampel

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Magali J Fernandez

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Majed Dasouki

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P2860

Phosphorylation of the PTEN tail regulates protein stability and function

The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation

Protean PTEN: form and function

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

Will the real Cowden syndrome please stand up: revised diagnostic criteria

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome

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 model

Regulation of PTEN transcription by p53

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

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

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