Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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
ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis.
Ko W et al.
Nucleic Acids Research, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 2024
Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.
Cuyx S et al.
Thorax, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V et al.
International Journal of Molecular Sciences, 2023
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.
Auzenbaha M et al.
Diagnostics (basel, Switzerland), 2022
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].
Kondratyeva E et al.
Current Issues in Molecular Biology, 2022
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.
Bulegenova M et al.
Indian Pediatrics, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.
Zampoli M et al.
Erj Open Research, 2021
Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.
Petrova N et al.
Frontiers in Genetics, 2021
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.
Zybert K et al.
Pediatric Pulmonology, 2020
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.
Phuan PW et al.
Scientific Reports, 2019
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Petrova NV et al.
Bmc Medical Genetics, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M et al.
Bmc Medical Genomics, 2018
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Pranke I et al.
Erj Open Research, 2018
High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.
Petrova NV et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A et al.
European Journal of Human Genetics : Ejhg, 2013
The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
Frenţescu L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Morea A et al.
Molecular Human Reproduction, 2005
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
Wang Z et al.
Human Reproduction (oxford, England), 2002
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Verlingue C et al.
Human Mutation, 1995
Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.
Ivaschenko TE et al.
Human Genetics, 1993