DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions
DGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid lesions was genoty...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-11-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/23/14812 |
| _version_ | 1797463149519044608 |
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| author | Lia Rodrigues Sule Canberk Sofia Macedo Paula Soares João Vinagre |
| author_facet | Lia Rodrigues Sule Canberk Sofia Macedo Paula Soares João Vinagre |
| author_sort | Lia Rodrigues |
| collection | DOAJ |
| description | DGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid lesions was genotyped for the c.1552G>A p.(E518K) mutation. When frozen tissue was available, <i>DGCR8</i> mRNA expression was analysed by qPCR. Formalin-fixed paraffin-embedded tissues were studied for DGCR8 immunoexpression. We present for the first time the p.(E518K) mutation in a case of poorly differentiated thyroid carcinoma and present the deregulation of <i>DGCR8</i> expression at mRNA level in follicular-patterned tumours. The obtained data solidify DGCR8 as another important player of miRNA-related gene mutations in thyroid tumorigenesis, particularly in follicular-patterned thyroid tumours. |
| first_indexed | 2024-03-09T17:46:35Z |
| format | Article |
| id | doaj.art-7f01fb8ee7bf4dccb62be2e721f0faa9 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T17:46:35Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-7f01fb8ee7bf4dccb62be2e721f0faa92023-11-24T11:08:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-11-0123231481210.3390/ijms232314812DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid LesionsLia Rodrigues0Sule Canberk1Sofia Macedo2Paula Soares3João Vinagre4Escola Superior de Saúde do Instituto Politécnico do Porto, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, PortugalInstituto de Investigação e Inovação em Saúde da Universidade do Porto (I3S), Rua Alfredo Allen, 4200-135 Porto, PortugalInstituto de Investigação e Inovação em Saúde da Universidade do Porto (I3S), Rua Alfredo Allen, 4200-135 Porto, PortugalInstituto de Investigação e Inovação em Saúde da Universidade do Porto (I3S), Rua Alfredo Allen, 4200-135 Porto, PortugalInstituto de Investigação e Inovação em Saúde da Universidade do Porto (I3S), Rua Alfredo Allen, 4200-135 Porto, PortugalDGCR8 emerged recently as miRNAs biogenesis pathway protein with a highlighted role in thyroid disease. This study aimed to characterize this miRNA biogenesis component, in particular the p.(E518K) mutation and DGCR8 expression in a series of thyroid lesions. The series of thyroid lesions was genotyped for the c.1552G>A p.(E518K) mutation. When frozen tissue was available, <i>DGCR8</i> mRNA expression was analysed by qPCR. Formalin-fixed paraffin-embedded tissues were studied for DGCR8 immunoexpression. We present for the first time the p.(E518K) mutation in a case of poorly differentiated thyroid carcinoma and present the deregulation of <i>DGCR8</i> expression at mRNA level in follicular-patterned tumours. The obtained data solidify DGCR8 as another important player of miRNA-related gene mutations in thyroid tumorigenesis, particularly in follicular-patterned thyroid tumours.https://www.mdpi.com/1422-0067/23/23/14812miRNAthyroid cancermicroprocessor complexDGCR8 |
| spellingShingle | Lia Rodrigues Sule Canberk Sofia Macedo Paula Soares João Vinagre DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions International Journal of Molecular Sciences miRNA thyroid cancer microprocessor complex DGCR8 |
| title | DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions |
| title_full | DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions |
| title_fullStr | DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions |
| title_full_unstemmed | DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions |
| title_short | DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions |
| title_sort | dgcr8 microprocessor subunit mutation and expression deregulation in thyroid lesions |
| topic | miRNA thyroid cancer microprocessor complex DGCR8 |
| url | https://www.mdpi.com/1422-0067/23/23/14812 |
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