Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.F508del1
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MPO

NM_000250.2:p.F508del1

Associated Papers

Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.

Nussstein H et al.

The European Respiratory Journal, 2026

People with cystic fibrosis with high sputum neutrophil elastase on elexacaftor-tezacaftor-ivacaftor exhibit worse pulmonary function and pro-inflammatory airway milieu.

Cammarata-Mouchtouris A et al.

Scientific Reports, 2025

Restoring chloride efflux in cystic fibrosis with TMEM16a antisense oligonucleotides.

Mitri C et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease.

Rajab I et al.

Annals of Medicine and Surgery (2012), 2025

Mechanisms of Lung Cancer Development in Cystic Fibrosis Patients: The Role of Inflammation, Oxidative Stress, and Lung Microbiome Dysbiosis.

Pagliaro R et al.

Biomolecules, 2025

Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis.

Bacalhau M et al.

Journal of Personalized Medicine, 2024

Proteomic profiling of sweat in patients with cystic fibrosis provides new insights into epidermal homoeostasis.

Cornet M et al.

Skin Health and Disease, 2023

Impact of CFTR Modulators on the Impaired Function of Phagocytes in Cystic Fibrosis Lung Disease.

Meoli A et al.

International Journal of Molecular Sciences, 2022

Neutrophil dysfunction in cystic fibrosis.

Yonker LM et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021

Increased Inflammatory Markers Detected in Nasal Lavage Correlate with Paranasal Sinus Abnormalities at MRI in Adolescent Patients with Cystic Fibrosis.

Chung J et al.

Antioxidants (basel, Switzerland), 2021

VJ Segment Usage of TCR-Beta Repertoire in Monozygotic Cystic Fibrosis Twins.

Fischer S et al.

Frontiers in Immunology, 2021

Single-Cell Transcriptional Archetypes of Airway Inflammation in Cystic Fibrosis.

Schupp JC et al.

American Journal of Respiratory and Critical Care Medicine, 2020

Myeloperoxidase oxidation of methionine associates with early cystic fibrosis lung disease.

Chandler JD et al.

The European Respiratory Journal, 2018

Treatment with rhDNase in patients with cystic fibrosis alters in-vitro CHIT-1 activity of isolated leucocytes.

Weckmann M et al.

Clinical and Experimental Immunology, 2016

A novel lipidomic strategy reveals plasma phospholipid signatures associated with respiratory disease severity in cystic fibrosis patients.

Guerrera IC et al.

Plos One, 2009

Cystic fibrosis chronic rhinosinusitis: a comprehensive review.

Chaaban MR et al.

American Journal of Rhinology & Allergy, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."