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Article

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

Respiratory research - 25 Aug 2011

Peca Donatella, Petrini Stefania, Tzialla Chryssoula, Boldrini Renata, Morini Francesco, Stronati Mauro, Carnielli Virgilio P, Cogo Paola E, Danhaive Olivier

Abstract excerpt

BACKGROUND: Mutations of genes affecting surfactant homeostasis, such as SFTPB, SFTPC and ABCA3, lead to diffuse lung disease in neonates and children. Haploinsufficiency of NKX2.1, the gene encoding the thyroid transcription factor-1 (TTF-1)--critical for lung, thyroid and central nervous system morphogenesis and function--causes a rare form of progressive respiratory failure designated brain-lung-thyroid...

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Source

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Identifiers

PMID: 21867529
DOI: 10.1186/1465-9921-12-115
PMCID: PMC3179724

Genes

ABCA3
SFTPB
SFTPC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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