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Article

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

BioMed research international - 1 Jan 2021

de Faria Poloni Joice, Rispoli Thaiane, Rossetti Maria Lucia, Trindade Cristiano, Vargas José Eduardo

Abstract excerpt

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 is aimed at predicting cell signaling pathways present in different tissues of fibrocystic patients, homozygous for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34901273
DOI: 10.1155/2021/5262000
PMCID: PMC8660202

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