Cystic Fibrosis Research Advances

This study shows chronic lung inflammation in a CF mouse model increases myeloid bias in hematopoietic stem cells, which persists even after inflammation resolves.

This study identifies sputum proteomic signatures linked to FEV1 and QoL changes in cystic fibrosis trials, revealing distinct physiological mechanisms.

This study compares a novel CFTR potentiator, SK-POT1, to ivacaftor in improving mucociliary clearance in airway epithelial cells exposed to cigarette smoke.

The paper shows that upregulating an NMD-insensitive CFTR mRNA isoform with ASOs and ETI can restore partial Cl- transport function in cells with 3' PTC mutations.

The paper identifies two distinct microbial community states associated with pulmonary exacerbations in cystic fibrosis and shows how these states predict treatment outcomes.

This study evaluates how different culture media affect the differentiation and proliferation of human airway epithelial cells in vitro using single-cell RNA sequencing and imaging.

This study investigates the roles of anion exchange and Cftr in regulating mucus expansion and secretion in the colon and ileum, finding that anion exchange controls expansion while Cftr mediates de novo secretion.

This paper develops a PCD pig model with DNAI1 mutations and characterizes its respiratory and sinus disease features, showing similarities to human PCD.

The paper identifies cell types and modifier genes co-expressed with CFTR in lung tissue using single-cell RNA sequencing to inform therapeutic target prioritization.

This study investigates the role of CFTR in porosome-mediated mucus secretion and shows that reconstituting functional porosomes from wild-type CFTR cells significantly improves mucus secretion in ΔF508 CFTR mutant cells.

This paper shows tobramycin reduces inflammation in cystic fibrosis by increasing 5' tRNA-fMet halves in P. aeruginosa outer membrane vesicles, which suppress IL-8 and neutrophilic inflammation in human cells and mice.

This study investigates the mechanism of N1303K-CFTR rescue by ELX/TEZ and ETI combotherapy, showing increased protein amounts and activity with potential clinical benefits.

This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.

The paper analyzes the genomic diversity of Pseudomonas aeruginosa in bronchiectasis, revealing distinct evolutionary patterns compared to cystic fibrosis and highlighting antimicrobial resistance mechanisms.

The paper identifies SLC26A9 variants as modifier genes associated with rapidly progressing cystic fibrosis in patients with deltaF508 homozygous CFTR mutations.

This study shows that intestinal epithelial-specific loss of CFTR in mice leads to intestinal dysbiosis and inflammation, similar to global Cftr KO mice.

The paper screens 1400 FDA-approved drugs in CF patient-derived intestinal organoids using a functional assay to identify potential repurposing for rare CF genotypes.

The paper characterizes CFTR variant diversity across six ancestries using UK Biobank whole exome sequences, identifying ancestry-specific variants and associations with CF-related phenotypes.

The paper identifies differentially expressed genes and hub genes in cystic fibrosis using NGS data from GEO, revealing potential molecular targets and biomarkers.

The paper uses machine learning to predict antibiotic eradication therapy success for Pseudomonas aeruginosa infections in cystic fibrosis patients based on genomic data, achieving an AUC of 0.87.

This study shows that K978C CFTR, which increases open probability, restores epithelial function more efficiently than wildtype CFTR in CF airway cells when expressed in the presence of CF sputum.

This study develops an iPSC platform to test CFTR modulators in cystic fibrosis patients with rare mutations, showing genotype-specific responses to drugs.

The paper uses scRNA-seq and flow cytometry to identify novel immune and epithelial cell populations in preschool CF patients' bronchoalveolar lavage.

This study develops a cocktail of ASOs to specifically increase CFTR W1282X mRNA and protein levels by inhibiting NMD, improving chloride current in human bronchial epithelial cells.

The paper characterizes the functional and structural defects of the R352Q CFTR mutation using patient-derived organoids and molecular dynamics simulations, showing residual function restored by potentiators but not correctors.

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

The paper compares transcriptomic profiles of CF probands and their parents to healthy controls, revealing CFTR-related immune dysfunction in both homozygous and heterozygous carriers.

This study analyzes microbial communities in CF and BX patients, finding no significant inter-kingdom interactions between fungal and bacterial communities that impact disease outcomes.

This paper develops an exon-skipping antisense oligonucleotide (ASO) strategy to increase CFTR protein levels in patients with the W1282X mutation by bypassing nonsense-mediated mRNA decay.

The paper functionally and structurally characterizes an ultra-rare CFTR mutation, showing it responds to specific potentiators and correctors, with altered lasso motif interactions affecting channel gating.