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Article

Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.

Pediatric research - 1 Feb 2024

Wang Huixian, Jiang Gaoli, Dai Dan, Hong Da, Zhou Weitao, Qian Liling

Abstract excerpt

BACKGROUND: We aim to report two unrelated patients with pulmonary surfactant dysfunction (PSD) that carried two novel NKX2-1 frameshift variants, and evaluated the impact of these variants in vitro. METHODS: We enrolled children with PSD and NKX2-1 variants, and collected their clinical information and follow-up data. We constructed wild-type (WT) and variant NKX2-1 plasmids and transfected them into A549 and...

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Source

Identifiers

PMID: 37935886
DOI: 10.1038/s41390-023-02882-x

Genes

PAX8
PSD
IMPACT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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