ArticleAmerican journal of human genetics2006
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Article
- RNA Alternative Splicing and Polyadenylation and Regulation of the Glomerular Filtration Barrier.Journal of the American Society of Nephrology : JASN · 2025Article
- PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Article
- Alternative Splicing ofFrontiers in microbiology · 2021Article
- Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Nature medicine · 2020Article
- The Complex Landscape ofCold Spring Harbor perspectives in medicine · 2020Review
- Precise Immunodetection of PTEN Protein in Human Neoplasia.Cold Spring Harbor perspectives in medicine · 2019Review
- Feedback regulation of RTK signaling in development.Developmental biology · 2019Review
- Article
- Mutations of KRAS/NRAS/BRAF predict cetuximab resistance in metastatic colorectal cancer patients.Oncotarget · 2016Article
- An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.British journal of cancer · 2013Article
- Potential molecular targeting of splice variants for cancer treatment.Indian journal of experimental biology · 2011Review
- Small bowel polyposis syndromes.Current gastroenterology reports · 2011Review
- Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.Gastroenterology & hepatology · 2010Article
- Manipulating insulin signaling to enhance mosquito reproduction.BMC physiology · 2009Article
- Pediatric juvenile polyposis syndromes: an update.Current gastroenterology reports · 2009Article
- PTEN hamartoma tumor syndromes.European journal of human genetics : EJHG · 2008Review
- Review
- Hamartomatous polyposis syndromes.The Surgical clinics of North America · 2008Review
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are autosomal dominant hamartoma syndromes. Germline PTEN mutations have been associated with 85% of CS cases and 65% of BRRS cases and also with other disorders, which are collectively referred to as the "PTEN hamartoma tumor syndrome." The human PTEN gene has been previously found to express two naturally occurring splice variants (SVs). Recently, we identified eight novel naturally occurring PTEN SVs that result in different downstream signaling effects: SV3a, SV3b, SV3c (inclusion of various lengths of intron 3 3' of exon 3), SV5a, SV5b, SV5c, SV5d (inclusion of various lengths of intron 5 3' of exon 5), and SV Delta Ex6 (deletion of exon 6). We therefore sought to characterize the relative expression of 5', middle, and 3' full-length PTEN mRNA (FL-PTEN) and also of these eight PTEN SVs in 85 (65 female and 20 male) patients with CS/BRRS (with or without PTEN mutations) compared with 27 controls, using a SYBR green quantitative polymerase chain reaction method. Significantly reduced FL-PTEN levels were found in the probands, compared with those of controls (P < .01). Apart from FL-PTEN, SV3a is the most consistently relatively underexpressed in patients compared with controls. The patients showed relative underexpression of SV3a and SV3b and overexpression of SV5b (P = .005, P = .02, and P = .04, respectively). Indeed, there appears to be an SV expressional genotype-phenotype correlation in which the SV expressional profiles are distinct among CS, CS-like, and BRRS. The reduced FL-PTEN transcript expression, associated with differential expression of PTEN SVs, regardless of PTEN mutation status, supports the concept that modulation of PTEN inactivation may also occur at the transcription level influencing the specific phenotypes seen in these syndromes.
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