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

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 m...

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Detalles Bibliográficos
Autores principales: Peca, Donatella, Petrini, Stefania, Tzialla, Chryssoula, Boldrini, Renata, Morini, Francesco, Stronati, Mauro, Carnielli, Virgilio P, Cogo, Paola E, Danhaive, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179724/
https://www.ncbi.nlm.nih.gov/pubmed/21867529
http://dx.doi.org/10.1186/1465-9921-12-115

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