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CF, CFTR
Publication
Class
Person
Publication
Programmes
publication
CFTR protein modulators
2019 |
Second Faculty of Medicine
publication
Complex CFTR alleles in the era of CFTR modulator therapy: a case report
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
A mutation in CFTR produces different phenotypes depending on chromosomal background
1993 |
Central Library of Charles University
publication
Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis
2021 |
Second Faculty of Medicine
publication
Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations
2019 |
Second Faculty of Medicine
publication
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity
1995 |
Central Library of Charles University
publication
Elexacaftor: next-generation modulator of the CFTR protein
2021 |
Second Faculty of Medicine
publication
Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition
2020 |
Second Faculty of Medicine
publication
Recommendations for the classification of diseases as CFTR-related disorders
2011 |
Second Faculty of Medicine
publication
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
2009 |
Second Faculty of Medicine
publication
Availability of CFTR modulators in countries of Eastern Europe: The reality in 2022
2022 |
Second Faculty of Medicine
publication
Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement
2020 |
Second Faculty of Medicine
publication
CFTR activity is enhanced by the novel corrector GLPG2222, given with and without ivacaftor in two randomized trials
2019 |
Second Faculty of Medicine
publication
Building global development strategies for cf therapeutics during a transitional cftr modulator era
2020 |
Second Faculty of Medicine
publication
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients
2019 |
Second Faculty of Medicine
publication
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
2005 |
Second Faculty of Medicine
publication
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
2002 |
Second Faculty of Medicine
publication
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene
1997 |
Second Faculty of Medicine
publication
Cystic fibrosis drug trial design in the era of CFTR modulators associated with substantial clinical benefit: stakeholders' consensus view
2020 |
Second Faculty of Medicine
publication
Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci
2010 |
Second Faculty of Medicine
publication
Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells
2021 |
Second Faculty of Medicine
publication
Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens
2011 |
Second Faculty of Medicine
publication
Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene
2009 |
Second Faculty of Medicine
publication
Detection of two Alu insertions in the CFTR gene
2008 |
Second Faculty of Medicine
publication
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry
2021 |
Second Faculty of Medicine
publication
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
GLPG1837, a CFTR potentiator, in p.Gly551Asp (G551D)-CF patients: An open-label, single-arm, phase 2a study (SAPHIRA1)
2019 |
Second Faculty of Medicine
publication
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
2019 |
Second Faculty of Medicine
publication
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
2006 |
Second Faculty of Medicine
publication
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
2022 |
Second Faculty of Medicine