Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis

Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis

BackgroundLung disease phenotype varies widely even in the F508del (homozygous) genotype. Leukocyte-driven inflammation is important for pulmonary disease pathogenesis in cystic fibrosis (CF). Blood cytokines correlate negatively with pulmonary function in F508del homozygous patients, and gap juncti...

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Bibliographic Details
Main Authors: Tabea Horn, Michael Ludwig, Olaf Eickmeier, Anne H. Neerinex, Anke H. Maitland-van der Zee, Christina Smaczny, Thomas O. F. Wagner, Ralf Schubert, Stefan Zielen, Christof Majoor, Lieuwe D. Bos, Sabina Schmitt-Grohé
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Genetics
Subjects:
cystic fibrosis
F508del homozygous
lung disease phenotype
lung function
inflammatory markers
phenotype/genotype relation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.570403/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.570403/full

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