ArticleFrontiers in pediatrics2022
Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
6 citing papers in PubMed, 3 syntheses or guidelines pooled it, 6 citations in OpenAlex.
- Respiratory and other organ manifestations inFrontiers in medicine · 2025Pooled it
- Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.PloS one · 2024Pooled it
- Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.PloS one · 2024Pooled it
- Long isoforms of the COPD risk gene FAM13A orchestrate human lung epithelial development.American journal of respiratory cell and molecular biology · 2026Article
- Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.PloS one · 2025Article
- Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.Pediatric research · 2024Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
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.