Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients’ Samples Reveals Perturbations in Tissue-Specific Pathways

Cystic fibrosis (CF) is an autosomal recessive disorder, caused by diverse genetic variants for the CF transmembrane conductance regulator (CFTR) protein. Among these, p.Phe508del is the most prevalent variant. The effects of this variant on the physiology of each tissue remains unknown. This study...

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Veröffentlicht in:	BioMed research international 2021, Vol.2021, p.5262000-16
Hauptverfasser:	de Faria Poloni, Joice, Rispoli, Thaiane, Rossetti, Maria Lucia, Trindade, Cristiano, Vargas, José Eduardo
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Analysis Biomarkers Biomarkers - metabolism Care and treatment Cell activation Cell signaling Cellular signal transduction Cystic fibrosis Cystic Fibrosis - genetics Datasets Diagnosis DNA microarrays Epithelium Epithelium - physiology Gene expression Gene Expression - genetics Genetic diversity Genetic variance Hereditary diseases Homozygote Humans Leukocytes (neutrophilic) Lungs Mutation - genetics Networks Ontology Pathogenesis Perturbation Protein interaction Protein Interaction Maps - genetics Protein-protein interactions Proteins Risk factors Signal Transduction - genetics Systems Biology - methods Tissues
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