Transforming Growth Factor ß1 and Gap Junction Protein Alpha 4 Gene Heterogeneity in Relation to the Severity of Clinical Disease in Cystic Fibrosis.

doi:10.31083/j.fbl2807138

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Transforming Growth Factor ß1 and Gap Junction Protein Alpha 4 Gene Heterogeneity in Relation to the Severity of Clinical Disease in Cystic Fibrosis.

Frontiers in bioscience (Landmark edition) - 19 Jul 2023

Laubach Joern Pascal, Ludwig Michael, Horn Tabea, Eickmeier Olaf, Smaczny Christina, Schubert Ralf, Zielen Stefan, Majoor Christof, Aydin Malik, Schnell Alexander, Schmitt-Grohé Sabina

Abstract excerpt

BACKGROUND: High TGFβ1-producing variants cause severe clinical disease in F508del homozygous patients. Lately, we showed that a single nucleotide polymorphism (SNP), rs41266431, in the GJA4 gene modifies the disease severity of cystic fibrosis (CF). Our aim was to investigate whether the clinical phenotype associated with GJA4 variants was independent of TGFβ1 variants. METHODS: Homozygous F508del patients (n =...

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PMID: 37525914
DOI: 10.31083/j.fbl2807138

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GJA4

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