Electrophysiological evaluation of Cystic Fibrosis Conductance Transmembrane Regulator (CFTR) expression in human monocytes

Autor: Sara Caldrer, Claudio Sorio, Elisa Calcaterra, Genny Verzè, Paola Melotti, Baroukh M. Assael, Mario Rosario Buffelli, Michele Ettorre, Jan Evert Johansson

Publikováno v: Biochimica et Biophysica Acta (BBA) - General Subjects. 1840:3088-3095

Background Cystic fibrosis is caused by mutations of CFTR gene, a protein kinase A-activated anion channel, and is associated to a persistent and excessive chronic lung inflammation, suggesting functional alterations of immune cells. Leukocytes expre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c75cd56a651975e1276ec3fa6305974
https://doi.org/10.1016/j.bbagen.2014.07.010

Mutations of Cystic Fibrosis Transmembrane Conductance Regulator Gene Cause a Monocyte-Selective Adhesion Deficiency

Autor: Matteo Bolomini-Vittori, Baroukh M. Assael, Silvia Dusi, Alessio Montresor, Paola Melotti, Stefano Angiari, Carlo Laudanna, Marzia Vezzalini, Elisa Calcaterra, Teresinha Leal, Sara Caldrer, Claudio Sorio, Jan Evert Johansson, Barbara Rossi

Publikováno v: American Journal of Respiratory and Critical Care Medicine, 193, 10, pp. 1123-33
American Journal of Respiratory and Critical Care Medicine, 193, 1123-33

Item does not contain fulltext BACKGROUND: Cystic fibrosis (CF) is a common genetic disease caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. Persistent lung inflammation, characterized by increasing polymorphonuclear leu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4977c0c5a186929e67fa45bd3bd63a5a
http://hdl.handle.net/11562/949441

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Autor: Chiara Angiari, Claudio Sorio, Mario Rosario Buffelli, Sara Caldrer, Baroukh M. Assael, Paola Melotti, Genny Verzè, Jan Evert Johansson

Publikováno v: BMC Pulmonary Medicine

Background This report describe for the first time a clinical case with a CFTR allelic variant 186-8T/C (c.54-8 T/C) in intron 1 of CFTR and underline the importance of applying a combination of genetic and functional tests to establish or exclude a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db9f69d50f1b8a914474952b0d35eae
https://doi.org/10.1186/1471-2466-14-44

Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis

Autor: Baroukh M. Assael, Jan Evert Johansson, Marzia Vezzalini, Chiara Angiari, Claudio Sorio, Genny Verzè, Laura Viviani, Mario Ricciardi, Mario Rosario Buffelli, Paola Melotti, Michele Ettorre

Publikováno v: PLoS ONE, Vol 6, Iss 7, p e22212 (2011)
PLoS ONE

BackgroundEvaluation of cystic fibrosis transmembrane conductance regulator (CFTR) functional activity to assess new therapies and define diagnosis of cystic fibrosis (CF) is cumbersome. It is known that leukocytes express detectable levels of CFTR b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59172ea8816c2af0cad54cd3fbb3ae7
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21811577/?tool=EBI

46 Functional properties of CFTR in human monocytes measured by patch clamp technique

Autor: Mario Rosario Buffelli, B.M. Assael, Claudio Sorio, Genny Verzè, Paola Melotti, Sara Caldrer, Michele Ettorre, Jan Evert Johansson

Publikováno v: Journal of Cystic Fibrosis. 12:S60

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba881f766d92893e62e36d5c738b92aa
https://doi.org/10.1016/s1569-1993(13)60189-7