AIMC Topic: Cystic Fibrosis Transmembrane Conductance Regulator
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Protocol for functional screening of CFTR-targeted genetic therapies in patient-derived organoids using DETECTOR deep-learning-based analysis.
STAR protocols
Jan 31, 2025
Here, we present a protocol for the rapid functional screening of gene editing and addition strategies in patient-derived organoids using the deep-learning-based tool DETECTOR (detection of targeted editing of cystic fibrosis transmembrane conductanc...
Artificial Intelligence-Driven Prediction Revealed CFTR Associated with Therapy Outcome of Breast Cancer: A Feasibility Study.
Oncology
Jul 18, 2024
INTRODUCTION: In silico tools capable of predicting the functional consequences of genomic differences between individuals, many of which are AI-driven, have been the most effective over the past two decades for non-synonymous single nucleotide varia...
OrgaSegment: deep-learning based organoid segmentation to quantify CFTR dependent fluid secretion.
Communications biology
Mar 13, 2024
Epithelial ion and fluid transport studies in patient-derived organoids (PDOs) are increasingly being used for preclinical studies, drug development and precision medicine applications. Epithelial fluid transport properties in PDOs can be measured th...
Sweat Proteomics in Cystic Fibrosis: Discovering Companion Biomarkers for Precision Medicine and Therapeutic Development.
Cells
Jul 31, 2022
In clinical routine, the diagnosis of cystic fibrosis (CF) is still challenging regardless of international consensus on diagnosis guidelines and tests. For decades, the classical Gibson and Cooke test measuring sweat chloride concentration has been ...
Artificial intelligence in computed tomography for quantifying lung changes in the era of CFTR modulators.
The European respiratory journal
Mar 3, 2022
BACKGROUND: Chest computed tomography (CT) remains the imaging standard for demonstrating cystic fibrosis (CF) airway structural disease . However, visual scoring systems as an outcome measure are time consuming, require training and lack high reprod...
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Nature communications
Jun 7, 2021
Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing due to mutation lead to dysregulated protein expression and contribute to a substantial fraction of human disease. Several classes of splicing modulator compound...
Essential oils against bacterial isolates from cystic fibrosis patients by means of antimicrobial and unsupervised machine learning approaches.
Scientific reports
Feb 14, 2020
Recurrent and chronic respiratory tract infections in cystic fibrosis (CF) patients result in progressive lung damage and represent the primary cause of morbidity and mortality. Staphylococcus aureus (S. aureus) is one of the earliest bacteria in CF ...
Impact of Cystic Fibrosis Transmembrane Conductance Regulator Therapy on Chronic Rhinosinusitis and Health Status: Deep Learning CT Analysis and Patient-reported Outcomes.
Annals of the American Thoracic Society
Jan 1, 2022
Elexacaftor, tezacaftor, and ivacaftor (ETI) in triple combination improves pulmonary health for people with cystic fibrosis (PwCF). However, its impact on objective measures of sinus disease and health utility is unestablished. To evaluate the imp...
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