Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome

scientific article published on 4 July 2017

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.23288
P932PMC publication ID5599331
P698PubMed publication ID28677221

P50authorCharis EngQ37385393
P2093author name stringTodd Romigh
Kaitlin Sesock
Hannah Jinlian Chen
P2860cites workAnalysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelQ22337253
TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor betaQ24310394
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseQ24322705
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsQ24606333
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsQ24673663
Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum DisorderQ26822064
Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTENQ28513537
Mechanism and regulation of mRNA polyadenylationQ29614774
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndromeQ29615538
Functional analysis of the protein phosphatase activity of PTENQ34194118
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposisQ35250337
Lifetime cancer risks in individuals with germline PTEN mutations.Q35681689
Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorderQ36048195
Modeling synovial sarcoma metastasis in the mouse: PI3'-lipid signaling and inflammationQ37500347
A day in the life of the spliceosomeQ38180972
PTEN hamartoma tumor syndrome: clinical risk assessment and management protocolQ38280809
The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulationQ40254270
Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosisQ40372916
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilizationQ42430246
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTENQ57591094
Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
P433issue10
P304page(s)1372-1377
P577publication date2017-07-04
P1433published inHuman MutationQ5937269
P1476titleCharacterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome
P478volume38

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cites work (P2860)
Q57261157Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients
Q57455573Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Q96171987Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas
Q49887901PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy.
Q92393007TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

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