Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) CFTR allele using haplotype-resolved long-read next generation sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24352
Abstract: Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However,… read more here.
Keywords: cftr; haplotype resolved; f508del; mutation ... See more keywords
G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2033
Abstract: Dear Editor, Cystic Fibrosis (CF) is a multisystem disease caused by mutations causing deficient or dysfunctional CF transmembrane conductance regulator (CFTR) protein. Today, the growing proportion of newborn screening (NBS) programmes and the use of… read more here.
Keywords: cftr; i148t; variant; complex allele ... See more keywords
Symposium Summaries
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24151
Abstract: membrane, but rather undergoes constitutive internalization from the cell surface (1). Indeed, the endocytic kinetics for CFTR are remarkably fast, approaching that of nutrient receptors such as the LDL and transferrin receptors (2-4). Although there… read more here.
Keywords: cftr; recycling pathway; f508 cftr; cell surface ... See more keywords
Reversing the irreversible: Another potential benefit of CFTR modulators
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25047
Abstract: To the Editor, Cystic fibrosis (CF) is a genetic condition resulting from a fundamental defect in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This defect leads to a reduction or absence of chloride transport… read more here.
Keywords: ivacaftor; lumacaftor ivacaftor; cftr; age ... See more keywords
Review of CFTR modulators 2020.
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric pulmonology"
DOI: 10.1002/ppul.25627
Abstract: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are small molecules that directly impact the CFTR protein, improving the function of the CFTR chloride and bicarbonate channel. Beginning in 2012 with the Food and Drug Administration… read more here.
Keywords: modulators 2020; cystic fibrosis; cftr modulators; cftr ... See more keywords
DNA Sequencing Analysis of Cystic Fibrosis Transmembrane Regulator Gene Identifies Cystic Fibrosis-Associated Variants in the Severe Asthma Research Program.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric pulmonology"
DOI: 10.1002/ppul.25939
Abstract: BACKGROUND Heterozygote carriers of potentially pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have increased asthma risk. However, the frequency and impact of CFTR variation among individuals with asthma is unknown. OBJECTIVE… read more here.
Keywords: fibrosis transmembrane; severe asthma; cystic fibrosis; potentially pathogenic ... See more keywords
Esc peptides as novel potentiators of defective cystic fibrosis transmembrane conductance regulator: an unprecedented property of antimicrobial peptides
Sign Up to like & getrecommendations! Published in 2021 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-021-04030-2
Abstract: Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein lead to persistent lung bacterial infections, mainly due to Pseudomonas aeruginosa, causing loss of respiratory function and finally death of people affected by CF.… read more here.
Keywords: cystic fibrosis; property; cftr; fibrosis transmembrane ... See more keywords
Cellular mechanism for herbal medicine Junchoto to facilitate intestinal Cl−/water secretion that involves cAMP-dependent activation of CFTR
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Natural Medicines"
DOI: 10.1007/s11418-018-1207-9
Abstract: Constipation is a common symptom frequently compromising the quality of daily life. Several mechanistically different drugs have been used to mitigate constipation, including Japanese herbal (Kampo) medicines. However, the mechanisms of their actions are often… read more here.
Keywords: medicine; water secretion; caco cells; activation cftr ... See more keywords
Characterization of CFTR Activators and Inhibitors by the use of a Planar Patch Clamp System
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.2561
Abstract: Cystic fibrosis is caused by malfunction of the chloride channel Cystic Fibrosis Transmembrane Regulator (CFTR). CFTR is expressed in the apical membrane of epithelial cells where it is involved in the regulation of fluid transport… read more here.
Keywords: activators inhibitors; cftr; characterization cftr; forskolin ... See more keywords
CFTR regulates embryonic T lymphopoiesis via Wnt signaling in zebrafish.
Sign Up to like & getrecommendations! Published in 2021 at "Immunology letters"
DOI: 10.1016/j.imlet.2021.04.010
Abstract: The number and function of T cells are abnormal as observed in cystic fibrosis (CF) patients and CF mouse models, and our previous work shows that the CFTR mutant leads to deficiency of primitive and… read more here.
Keywords: cftr; cell development; embryonic lymphopoiesis; wnt signaling ... See more keywords
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity
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DOI: 10.1016/j.isci.2021.103710
Abstract: Summary Characterization of I37R, a mutation located in the lasso motif of the CFTR chloride channel, was conducted by theratyping several CFTR modulators from both potentiator and corrector classes. Intestinal current measurements in rectal biopsies,… read more here.
Keywords: characterization i37r; cftr; mutation; i37r cftr ... See more keywords