CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages

Autor: Jonathan L. Gillan, Mithil Chokshi, Gareth R. Hardisty, Sara Clohisey Hendry, Daniel Prasca-Chamorro, Nicola J. Robinson, Benjamin Lasota, Richard Clark, Lee Murphy, Moira K. B. Whyte, J. Kenneth Baillie, Donald J. Davidson, Gang Bao, Robert D. Gray

Publikováno v: Gillan, J L, Chokshi, M, Hardisty, G R, Clohisey Hendry, S, Prasca-Chamorro, D, Robinson, N J, Lasota, B, Clark, R, Murphy, L, Whyte, M K B, Baillie, J K, Davidson, D J, Bao, G & Gray, R D 2023, ' CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages ', Science Advances, vol. 9, no. 21, eadg5128, pp. 1-17 . https://doi.org/10.1126/sciadv.adg5128

An intense, nonresolving airway inflammatory response leads to destructive lung disease in cystic fibrosis (CF). Dysregulation of macrophage immune function may be a key facet governing the progression of CF lung disease, but the underlying mechanism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1d6f49036f9327fdf6f94531d99523
https://www.pure.ed.ac.uk/ws/files/350052675/sciadv.adg5128.pdf

Costo-efectividad de la prueba de secuenciación del gen CFTR para portadores asintomáticos en la población colombiana

Autor: Ernesto Andrade, Jorge Alberto Galindo Díaz

Publikováno v: Biomédica: revista del Instituto Nacional de Salud, Vol 40, Iss 2, Pp 283-295 (2020)
Biomédica, Volume: 40, Issue: 2, Pages: 283-295, Published: 30 JUN 2020
Biomédica

Resumen Introducción. La fibrosis quística es una enfermedad genética de carácter autosómico recesivo clasificada como enfermedad huérfana de alto costo. Objetivo. Determinar la razón de costo-efectividad de la prueba diagnóstica de secuencia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6489b5c5f1730bb5c50f1ff282cd0dde
https://revistabiomedica.org/index.php/biomedica/article/view/4816

Clinical and molecular characterization of the R751L-CFTR mutation

Autor: Vinciane Saint-Criq, Mahfud A. Ben-Hamida, Mike Althaus, Iram J. Haq, Malcolm Brodlie, C. O'Brien, Chris Ward, Hui Ying Yeoh, Michael A. Gray, Urjita Joshi, Peter van der Sluijs, Aaron Gardner, Bernard Verdon, Stephen Bourke, Matthew F. Thomas, Jennifer Townshend, Ineke Braakman

Publikováno v: American Journal of Physiology-Lung Cellular and Molecular Physiology
American Journal of Physiology-Lung Cellular and Molecular Physiology, American Physiological Society, In press, ⟨10.1152/ajplung.00137.2020⟩
American Journal of Physiology-Lung Cellular and Molecular Physiology, 320(2), L288. American Physiological Society
American Journal of Physiology: Lung Cellular and Molecular Physiology
Am J Physiol Lung Cell Mol Physiol 320:L288–L300, 2021

Cystic fibrosis (CF) arises from mutations in the CF transmembrane conductance regulator ( CFTR) gene, resulting in progressive and life-limiting respiratory disease. R751L is a rare CFTR mutation that is poorly characterized. Our aims were to descri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc0eb2a13d4ea70c4ceabc9f081ddb2
https://doi.org/10.1152/ajplung.00137.2020

Contribuição da análise molecular do gene regulador da condutância transmembrana na fibrose cística na investigação diagnóstica de pacientes com suspeita de fibrose cística leve ou doença atípica

Autor: Marina Siebert, Vinícius Buaes Dal'Maso, Maria Luiza Saraiva-Pereira, Laura Simon, Paulo de Tarso Roth Dalcin, Lucas Mallmann

Publikováno v: Jornal Brasileiro de Pneumologia : Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
Jornal Brasileiro de Pneumologia, Volume: 39, Issue: 2, Pages: 181-189, Published: APR 2013
Jornal Brasileiro de Pneumologia, Vol 39, Iss 2, Pp 181-189 (2013)
Jornal Brasileiro de Pneumologia v.39 n.2 2013
Jornal Brasileiro de Pneumologia
Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
instacron:SBPT

OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09672defd18b178ccfc6bad5ab203f3
http://europepmc.org/articles/PMC4075816

CFTR dysfunction induces vascular endothelial growth factor synthesis in airway epithelium

Autor: Nathalie Coolen, Virginie Prulière-Escabasse, Pierre-Régis Burgel, Daniel Dusser, Estelle Escudier, André Coste, Yongzheng Wu, Isabelle Fajac, Lhousseine Touqui, Guiti Thévenot, Clémence Martin, Jean-François Papon

Publikováno v: European Respiratory Journal
European Respiratory Journal, European Respiratory Society, 2013, 42 (6), pp.1553-1562. ⟨10.1183/09031936.00164212⟩
European Respiratory Journal, 2013, 42 (6), pp.1553-1562. ⟨10.1183/09031936.00164212⟩

International audience; Peribronchial angiogenesis may occur in cystic fibrosis and vascular endothelial growth factor (VEGF)-A regulates angiogenesis in airways. Peribronchial vascularity and VEGF-A expression were examined using immunocytochemistry

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d50404e016d01b07c398643e380311
https://pubmed.ncbi.nlm.nih.gov/24293414