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Article

Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.

Pediatric research - 1 Sept 2018

Attarian Stephanie J, Leibel Sandra L, Yang Ping, Alfano Danielle N, Hackett Brian P, Cole F Sessions, Hamvas Aaron

Abstract excerpt

BACKGROUND: Mutations in the NK2 homeobox 1 (NKX2-1) gene are associated with lung disease in infants and children. We hypothesize that disruption of normal surfactant gene expression with these mutations contributes to the respiratory phenotypes observed. METHODS: To assess transactivational activity, cotransfection of luciferase reporter vectors containing surfactant protein B or C (SFTPB or SFTPC) promoters...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutagenesis, Site-Directed

Share to Pulmonary Surfactant-Associated Protein B

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Source

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Identifiers

PMID: 29538355
DOI: 10.1038/pr.2018.30
PMCID: PMC6599453

Genes

SFTPB
SFTPC

Variants

Provenance

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