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Article

Surfactant protein C mutation links postnatal type 2 cell dysfunction to adult disease.

JCI insight - 22 Jul 2021

Sitaraman Sneha, Martin Emily P, Na Cheng-Lun, Zhao Shuyang, Green Jenna, Deshmukh Hitesh, Perl Anne-Karina T, Bridges James P, Xu Yan, Weaver Timothy E

Abstract excerpt

Mutations in the gene SFTPC, encoding surfactant protein C (SP-C), are associated with interstitial lung disease in children and adults. To assess the natural history of disease, we knocked in a familial, disease-associated SFTPC mutation, L188Q (L184Q [LQ] in mice), into the mouse Sftpc locus. Translation of the mutant proprotein, proSP-CLQ, exceeded that of proSP-CWT in neonatal alveolar type 2 epithelial cells...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34138759
DOI: 10.1172/jci.insight.142501
PMCID: PMC8410047

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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