Associated Papers
Proteoform medicine: characterizing and targeting protein forms in human disease.
Korchak JA et al.
Nature Reviews. Genetics, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.
Phuong PT et al.
Orphanet Journal of Rare Diseases, 2025
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 2025
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
Differential Expression and Microsystem Physiology Reveal Predominant and Drug Reversible CFTR-Related Defects in Idiopathic Pancreatitis.
Edisuriya P et al.
Biorxiv : the Preprint Server for Biology, 2025
Case Study: Genetic and In Silico Analysis of Familial Pancreatitis.
Sharma Y et al.
Genes, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment.
Wu M et al.
Journal of Clinical & Translational Endocrinology, 2024
Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children.
Han Y et al.
Heliyon, 2024
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Almaghamsi T et al.
Saudi Medical Journal, 2023
Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.
Davyt M et al.
The Journal of Biological Chemistry, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
Features of CFTR mRNA and implications for therapeutics development.
Jackson JJ et al.
Frontiers in Genetics, 2023
The burden of cystic fibrosis in North Africa.
El Makhzen N et al.
Frontiers in Genetics, 2023
Multicenter Surveillance of Cystic Fibrosis in Korean Children.
Kim HY et al.
Allergy, Asthma & Immunology Research, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
Petrova NV et al.
Bmc Genomics, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
Human Genetic Variation Influences Enteric Fever Progression.
Ma PY et al.
Cells, 2021
Clinical and molecular characterization of the R751L-CFTR mutation.
Haq IJ et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Association of the CFTR gene with asthma and airway mucus hypersecretion.
Crespo-Lessmann A et al.
Plos One, 2021
The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.
Bampi GB et al.
Life (basel, Switzerland), 2020
A code within the genetic code: codon usage regulates co-translational protein folding.
Liu Y
Cell Communication and Signaling : Ccs, 2020
Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.
Lascano-Vaca Y et al.
Bmc Pediatrics, 2020
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
Leung ML et al.
Scientific Data, 2020
A Functional Synonymous Variant in PDGFRA Is Associated with Better Survival in Acral Melanoma.
Dai J et al.
Journal of Cancer, 2020
Assessing cell-specific effects of genetic variations using tRNA microarrays.
Polte C et al.
Bmc Genomics, 2019
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
The CFTR gene variants in Japanese children with idiopathic pancreatitis.
Iso M et al.
Human Genome Variation, 2019
Timing during translation matters: synonymous mutations in human pathologies influence protein folding and function.
Rauscher R et al.
Biochemical Society Transactions, 2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Raraigh KS et al.
American Journal of Human Genetics, 2018
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N et al.
Human Mutation, 2018
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.
Ivády G et al.
Bmc Genomics, 2018
Exploring the Impact of Single-Nucleotide Polymorphisms on Translation.
Robert F et al.
Frontiers in Genetics, 2018
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017