{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:52:21Z","timestamp":1789426341075,"version":"build-2803163510"},"reference-count":41,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2118,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2007,10]]},"DOI":"10.1086\/521051","type":"journal-article","created":{"date-parts":[[2007,9,7]],"date-time":"2007-09-07T14:36:10Z","timestamp":1189175770000},"page":"756-767","source":"Crossref","is-referenced-by-count":71,"title":["Cowden Syndrome\u2013Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation"],"prefix":"10.1016","volume":"81","author":[{"given":"Rosemary E.","family":"Teresi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Zbuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus G.","family":"Pezzolesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin A.","family":"Waite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charis","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/521051_bib8","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0597-64","article-title":"Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome","volume":"16","author":"Liaw","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/521051_bib9","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1093\/hmg\/8.8.1461","article-title":"PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome","volume":"8","author":"Marsh","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/521051_bib10","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1086\/377109","article-title":"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","volume":"73","author":"Zhou","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/521051_bib11","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.yadr.2006.08.002","article-title":"More than just a bump: the hamartoma syndromes","volume":"22","author":"Witman","year":"2006","journal-title":"Adv Dermatol"},{"key":"10.1086\/521051_bib12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/nrc2037","article-title":"Cancer phenomics: RET and PTEN as illustrative models","volume":"7","author":"Zbuk","year":"2007","journal-title":"Nat Rev Cancer"},{"key":"10.1086\/521051_bib13","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/humu.10257","article-title":"PTEN: one gene, many syndromes","volume":"22","author":"Eng","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1086\/521051_bib14","series-title":"SEER cancer statistics review, 1975-2000","author":"Ries","year":"2003"},{"key":"10.1086\/521051_bib15","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.2004.018036","article-title":"Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome","volume":"41","author":"Pilarski","year":"2004","journal-title":"J Med Genet"},{"key":"10.1086\/521051_bib16","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.1320440309","article-title":"Bannayan-Riley-Ruvalcaba syndrome","volume":"44","author":"Gorlin","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1086\/521051_bib17","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J Med Genet"},{"key":"10.1086\/521051_bib18","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","article-title":"Will the real Cowden syndrome please stand up: revised diagnostic criteria","volume":"37","author":"Eng","year":"2000","journal-title":"J Med Genet"},{"key":"10.1086\/521051_bib19","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1093\/hmg\/ddm053","article-title":"Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome","volume":"16","author":"Pezzolesi","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1086\/521051_bib20","doi-asserted-by":"crossref","first-page":"6139","DOI":"10.1158\/0008-5472.CAN-06-0772","article-title":"p53 Down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction","volume":"66","author":"Tang","year":"2006","journal-title":"Cancer Res"},{"key":"10.1086\/521051_bib21","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1086\/508943","article-title":"Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes","volume":"79","author":"Pezzolesi","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1086\/521051_bib22","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1038\/sj.cdd.4401946","article-title":"c-Jun promotes cellular survival by suppression of PTEN","volume":"14","author":"Hettinger","year":"2007","journal-title":"Cell Death Differ"},{"key":"10.1086\/521051_bib23","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1038\/227680a0","article-title":"Cleavage of structural proteins during the assembly of the head of bacteriophage T4","volume":"227","author":"Laemmli","year":"1970","journal-title":"Nature"},{"key":"10.1086\/521051_bib24","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1086\/504392","article-title":"Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome","volume":"79","author":"Sarquis","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1086\/521051_bib25","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1006\/bbrc.2002.6662","article-title":"Promoter analysis of tumor suppressor gene PTEN: identification of minimum promoter region","volume":"292","author":"Sheng","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/521051_bib26","doi-asserted-by":"crossref","first-page":"5325","DOI":"10.1038\/sj.onc.1206783","article-title":"Regulation of constitutive expression of mouse PTEN by the 5\u2032-untranslated region","volume":"22","author":"Han","year":"2003","journal-title":"Oncogene"},{"key":"10.1086\/521051_bib27","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1097-2765(01)00323-9","article-title":"Regulation of PTEN transcription by p53","volume":"8","author":"Stambolic","year":"2001","journal-title":"Mol Cell"},{"key":"10.1086\/521051_bib28","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1128\/MCB.24.3.1007-1021.2004","article-title":"Suppression of PTEN expression by NF-kappa B prevents apoptosis","volume":"24","author":"Vasudevan","year":"2004","journal-title":"Mol Cell Biol"},{"key":"10.1086\/521051_bib29","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1126\/science.2468181","article-title":"On finding all suboptimal foldings of an RNA molecule","volume":"244","author":"Zuker","year":"1989","journal-title":"Science"},{"key":"10.1086\/521051_bib30","doi-asserted-by":"crossref","first-page":"40511","DOI":"10.1074\/jbc.M404496200","article-title":"Aberrant regulation of survivin by the RB\/E2F family of proteins","volume":"279","author":"Jiang","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1086\/521051_bib31","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1038\/ncb1201-1124","article-title":"The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling","volume":"3","author":"Virolle","year":"2001","journal-title":"Nat Cell Biol"},{"key":"10.1086\/521051_bib32","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/cc.6.1.3648","article-title":"CBF-1 (RBP-Jkappa) binds to the PTEN promoter and regulates PTEN gene expression","volume":"6","author":"Whelan","year":"2007","journal-title":"Cell Cycle"},{"key":"10.1086\/521051_bib33","doi-asserted-by":"crossref","first-page":"6139","DOI":"10.1158\/1078-0432.CCR-04-2453","article-title":"Estrogen receptor alpha binds to peroxisome proliferator-activated receptor response element and negatively interferes with peroxisome proliferator-activated receptor gamma signaling in breast cancer cells","volume":"11","author":"Bonofiglio","year":"2005","journal-title":"Clin Cancer Res"},{"key":"10.1086\/521051_bib34","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/S0960-9822(01)00225-1","article-title":"Tumor suppressor and anti-inflammatory actions of PPARgamma agonists are mediated via upregulation of PTEN","volume":"11","author":"Patel","year":"2001","journal-title":"Curr Biol"},{"key":"10.1086\/521051_bib35","doi-asserted-by":"crossref","first-page":"2390","DOI":"10.1002\/ijc.21799","article-title":"Increased PTEN expression due to transcriptional activation of PPARgamma by Lovastatin and Rosiglitazone","volume":"118","author":"Teresi","year":"2006","journal-title":"Int J Cancer"},{"key":"10.1086\/521051_bib36","series-title":"Technical report CBIL-TR-1997-1001-v0.0","author":"Schung","year":"1997"},{"key":"10.1086\/521051_bib37","first-page":"S1","article-title":"AliBaba2: context specific identification of transcription factor binding sites","volume":"2","author":"Grabe","year":"2002","journal-title":"In Silico Biol"},{"key":"10.1086\/521051_bib38","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1093\/nar\/26.1.362","article-title":"Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL","volume":"26","author":"Heinemeyer","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/521051_bib39","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/pros.20200","article-title":"Unopposed c-MYC expression in benign prostatic epithelium causes a cancer phenotype","volume":"63","author":"Williams","year":"2005","journal-title":"Prostate"},{"key":"10.1086\/521051_bib40","doi-asserted-by":"crossref","first-page":"4596","DOI":"10.1038\/sj.onc.1204620","article-title":"A somatic mutation in the 5\u2032UTR of BRCA1 gene in sporadic breast cancer causes down-modulation of translation efficiency","volume":"20","author":"Signori","year":"2001","journal-title":"Oncogene"},{"key":"10.1086\/521051_bib41","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/0092-8674(86)90762-2","article-title":"Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes","volume":"44","author":"Kozak","year":"1986","journal-title":"Cell"},{"key":"10.1086\/521051_bib42","doi-asserted-by":"crossref","first-page":"0004","DOI":"10.1186\/gb-2002-3-3-reviews0004","article-title":"Untranslated regions of mRNAs","volume":"3","author":"Mignone","year":"2002","journal-title":"Genome Biol"},{"key":"10.1086\/521051_bib43","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1136\/jmg.2005.036244","article-title":"Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2","volume":"43","author":"Saxena","year":"2006","journal-title":"J Med Genet"},{"key":"10.1086\/521051_bib44","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.1135308","article-title":"A \u201csilent\u201d polymorphism in the MDR1 gene changes substrate specificity","volume":"315","author":"Kimchi-Sarfaty","year":"2007","journal-title":"Science"},{"key":"10.1086\/521051_bib45","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1126\/science.1138239","article-title":"Genetics: SNPs, silent but not invisible","volume":"315","author":"Komar","year":"2007","journal-title":"Science"},{"key":"10.1086\/521051_bib46","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1126\/science.1131262","article-title":"Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure","volume":"314","author":"Nackley","year":"2006","journal-title":"Science"},{"key":"10.1086\/521051_bib47","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1017\/S135583820100108X","article-title":"The requirement for eukaryotic initiation factor 4A (elF4A) in translation is in direct proportion to the degree of mRNA 5\u2032 secondary structure","volume":"7","author":"Svitkin","year":"2001","journal-title":"RNA"},{"key":"10.1086\/521051_bib48","doi-asserted-by":"crossref","first-page":"8096","DOI":"10.1158\/0008-5472.CAN-05-1888","article-title":"Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis","volume":"65","author":"Chung","year":"2005","journal-title":"Cancer Res"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707630511?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707630511?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,4]],"date-time":"2019-01-04T16:53:01Z","timestamp":1546620781000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707630511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["S0002929707630511"],"URL":"https:\/\/doi.org\/10.1086\/521051","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2007,10]]}}}