Article: Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.
2023 Volume 10, Page(s) 978598
Abstract: Background: to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1: Methods: pathogenic variants were introduced into the pcDNA3-1(+)-wt-TTF1 plasmid. The proteins obtained were analyzed by western ... ...
| Abstract | Background: to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1 Methods: pathogenic variants were introduced into the pcDNA3-1(+)-wt-TTF1 plasmid. The proteins obtained were analyzed by western blot assay. Subcellular localization was assessed by confocal microscopy in A549 and Nthy cells. Transactivation of Results: The two sequence variants were predicted to produce aberrant proteins identical from the 86th amino acid, with deletion of their functional homeodomain, including the nuclear localization signal. However, 3D conformation prediction of the conformation prediction of the mutant protein assumed the presence of a nuclear localization signal, a bipartite sequence, confirmed by confocal microscopy showing both mutant proteins localized in the nucleus and cytoplasm. Transcriptional activity with Conclusion: These results provide novel insights into understanding the molecular mechanism of phenotypes associated with |
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| Language | English |
| Publishing date | 2023-01-17 |
| Publishing country | Switzerland |
| Document type | Journal Article |
| ZDB-ID | 2711999-3 |
| ISSN | 2296-2360 |
| ISSN | 2296-2360 |
| DOI | 10.3389/fped.2022.978598 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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