ArticleOncogene2005
A complex pattern of mutations and abnormal splicing of Smad4 is present in thyroid tumours.
Article in Oncogene, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 54 citations in OpenAlex.
- Underlying effect of SMAD4 gene polymorphism on risk prediction of papillary thyroid carcinoma in Chinese population.Heliyon · 2024Article
- Psychiatric manifestations of Myhre syndrome: A case report.Indian journal of psychiatry · 2023Article
- Novel thrombospondin-1 transcript exhibits distinctive expression and activity in thyroid tumorigenesis.Oncogene · 2023Article
- First documented case of Myhre syndrome in Romania: A case report.Experimental and therapeutic medicine · 2022Article
- Consequences of Mutations and Abnormal Expression of SMAD4 in Tumors and T Cells.OncoTargets and therapy · 2021Review
- Analysis of Prognostic Alternative Splicing Reveals the Landscape of Immune Microenvironment in Thyroid Cancer.Frontiers in oncology · 2021Article
- Acceleration of BRAFEndocrine · 2020Article
- Loss-of-function tolerance of enhancers in the human genome.PLoS genetics · 2020Article
- Transcription Factors in Cancer: When Alternative Splicing Determines Opposite Cell Fates.Cells · 2020Review
- Novel Alternatively Spliced Variants of Smad4 Expressed in TGF-β-Induced EMT Regulating Proliferation and Migration of A549 Cells.OncoTargets and therapy · 2020Article
- Immunohistochemical Expression of TGF-Β1, SMAD4, SMAD7, TGFβRII and CD68-Positive TAM Densities in Papillary Thyroid Cancer.Open access Macedonian journal of medical sciences · 2018Article
- Alternative Splicing of SMAD4 and Its Function in HaCaT Cells in Response to UVB Irradiation.Journal of Cancer · 2018Article
- Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.Endocrine connections · 2018Article
- Roles of Smads Family and Alternative Splicing Variants of Smad4 in Different Cancers.Journal of Cancer · 2018Review
- PfSMAD4 plays a role in biomineralization and can transduce bone morphogenetic protein-2 signals in the pearl oyster Pinctada fucata.BMC developmental biology · 2016Article
- [Identification of a novel aberrant spliceosome of MPL gene (MPLL391-V392ins12)in patients with myeloproliferative neoplasms].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2015Article
- Effects of the Smad4 C324Y mutation on thyroid cell proliferation.International journal of oncology · 2013Article
- TGF-beta/Smad pathway and BRAF mutation play different roles in circumscribed and infiltrative papillary thyroid carcinoma.Virchows Archiv : an international journal of pathology · 2012Article
- MicroRNA miR-146b-5p regulates signal transduction of TGF-β by repressing SMAD4 in thyroid cancer.Oncogene · 2012Article
- Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR).Breast cancer research : BCR · 2011Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sensitivity to transforming growth factor-beta is impaired in thyroid tumours. Similar to Mad -- Mother Against Decapentaplegic-(Smad)4 is frequently altered in cancers, but its involvement in this system is unknown. We analysed 56 thyroid tumours of various histotypes for Smad4 mutations by PCR-SSCP and sequencing, linking them to Smad4 reactivity as examined by immunohistochemistry (IHC), and 29 of them also for abnormalities in RNA expression due to alternative splicing. In all, 15/56 cases (27%), both benign and malignant lesions, harbour alterations of Smad4 coding sequence. We found several novel intragenic mutations (13 missense, two silent, one frameshift and one large insertion-deletion), with high incidence in the linker region. A subset of mutated tumours failed to express Smad4 protein by IHC. We have also detected four alternatively spliced tumour-associated Smad4 isoforms, lacking portions of the linker region, and three more due to unreported internal exon-exon rearrangements. Smad4 is both frequently mutated and deregulated by aberrant splicing in thyroid tumours and these alterations may contribute as an early event to thyroid tumorigenesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.