FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4381435683> ?p ?o ?g. }

• W4381435683 endingPage "10358" @default.
• W4381435683 startingPage "10358" @default.
• W4381435683 abstract "Despite the promising results of new CFTR targeting drugs designed for the recovery of F508del- and class III variants activity, none of them have been approved for individuals with selected rare mutations, because uncharacterized CFTR variants lack information associated with the ability of these compounds in recovering their molecular defects. Here we used both rectal organoids (colonoids) and primary nasal brushed cells (hNEC) derived from a CF patient homozygous for A559T (c.1675G>A) variant to evaluate the responsiveness of this pathogenic variant to available CFTR targeted drugs that include VX-770, VX-809, VX-661 and VX-661 combined with VX-445. A559T is a rare mutation, found in African-Americans people with CF (PwCF) with only 85 patients registered in the CFTR2 database. At present, there is no treatment approved by FDA (U.S. Food and Drug Administration) for this genotype. Short-circuit current (Isc) measurements indicate that A559T-CFTR presents a minimal function. The acute addition of VX-770 following CFTR activation by forskolin had no significant increment of baseline level of anion transport in both colonoids and nasal cells. However, the combined treatment, VX-661-VX-445, significantly increases the chloride secretion in A559T-colonoids monolayers and hNEC, reaching approximately 10% of WT-CFTR function. These results were confirmed by forskolin-induced swelling assay and by western blotting in rectal organoids. Overall, our data show a relevant response to VX-661-VX-445 in rectal organoids and hNEC with CFTR genotype A559T/A559T. This could provide a strong rationale for treating patients carrying this variant with VX-661-VX-445-VX-770 combination." @default.
• W4381435683 created "2023-06-21" @default.
• W4381435683 creator A5016559292 @default.
• W4381435683 creator A5043825289 @default.
• W4381435683 creator A5050025219 @default.
• W4381435683 creator A5052770087 @default.
• W4381435683 creator A5072277956 @default.
• W4381435683 creator A5073711928 @default.
• W4381435683 creator A5077053457 @default.
• W4381435683 creator A5079593455 @default.
• W4381435683 date "2023-06-19" @default.
• W4381435683 modified "2023-09-26" @default.
• W4381435683 title "Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination" @default.
• W4381435683 cites W1502815396 @default.
• W4381435683 cites W1854319952 @default.
• W4381435683 cites W1990725675 @default.
• W4381435683 cites W1990991203 @default.
• W4381435683 cites W2002473330 @default.
• W4381435683 cites W2006019980 @default.
• W4381435683 cites W2009119435 @default.
• W4381435683 cites W2011340684 @default.
• W4381435683 cites W2013914743 @default.
• W4381435683 cites W2039599894 @default.
• W4381435683 cites W2041993512 @default.
• W4381435683 cites W2049914201 @default.
• W4381435683 cites W2052588826 @default.
• W4381435683 cites W2061750255 @default.
• W4381435683 cites W2095205254 @default.
• W4381435683 cites W2102886871 @default.
• W4381435683 cites W2115127888 @default.
• W4381435683 cites W2131713299 @default.
• W4381435683 cites W2147107045 @default.
• W4381435683 cites W2151829259 @default.
• W4381435683 cites W2151837778 @default.
• W4381435683 cites W2159746250 @default.
• W4381435683 cites W2172683933 @default.
• W4381435683 cites W2465114161 @default.
• W4381435683 cites W2528395118 @default.
• W4381435683 cites W2762488847 @default.
• W4381435683 cites W2780568241 @default.
• W4381435683 cites W2800214599 @default.
• W4381435683 cites W2897626245 @default.
• W4381435683 cites W2921217165 @default.
• W4381435683 cites W2937424934 @default.
• W4381435683 cites W2985405196 @default.
• W4381435683 cites W3081438953 @default.
• W4381435683 cites W3081492719 @default.
• W4381435683 cites W3112448433 @default.
• W4381435683 cites W3147967992 @default.
• W4381435683 cites W3161541109 @default.
• W4381435683 cites W3201141993 @default.
• W4381435683 cites W4224234417 @default.
• W4381435683 cites W4251086905 @default.
• W4381435683 cites W4288434347 @default.
• W4381435683 cites W4306895629 @default.
• W4381435683 cites W4311929402 @default.
• W4381435683 cites W4312054909 @default.
• W4381435683 cites W4319298040 @default.
• W4381435683 cites W4323667819 @default.
• W4381435683 cites W4367843611 @default.
• W4381435683 doi "https://doi.org/10.3390/ijms241210358" @default.
• W4381435683 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37373505" @default.
• W4381435683 hasPublicationYear "2023" @default.
• W4381435683 type Work @default.
• W4381435683 citedByCount "0" @default.
• W4381435683 crossrefType "journal-article" @default.
• W4381435683 hasAuthorship W4381435683A5016559292 @default.
• W4381435683 hasAuthorship W4381435683A5043825289 @default.
• W4381435683 hasAuthorship W4381435683A5050025219 @default.
• W4381435683 hasAuthorship W4381435683A5052770087 @default.
• W4381435683 hasAuthorship W4381435683A5072277956 @default.
• W4381435683 hasAuthorship W4381435683A5073711928 @default.
• W4381435683 hasAuthorship W4381435683A5077053457 @default.
• W4381435683 hasAuthorship W4381435683A5079593455 @default.
• W4381435683 hasBestOaLocation W43814356831 @default.
• W4381435683 hasConcept C104317684 @default.
• W4381435683 hasConcept C12125453 @default.
• W4381435683 hasConcept C126322002 @default.
• W4381435683 hasConcept C135763542 @default.
• W4381435683 hasConcept C185592680 @default.
• W4381435683 hasConcept C31695470 @default.
• W4381435683 hasConcept C501734568 @default.
• W4381435683 hasConcept C54355233 @default.
• W4381435683 hasConcept C55493867 @default.
• W4381435683 hasConcept C71924100 @default.
• W4381435683 hasConcept C86803240 @default.
• W4381435683 hasConcept C98274493 @default.
• W4381435683 hasConceptScore W4381435683C104317684 @default.
• W4381435683 hasConceptScore W4381435683C12125453 @default.
• W4381435683 hasConceptScore W4381435683C126322002 @default.
• W4381435683 hasConceptScore W4381435683C135763542 @default.
• W4381435683 hasConceptScore W4381435683C185592680 @default.
• W4381435683 hasConceptScore W4381435683C31695470 @default.
• W4381435683 hasConceptScore W4381435683C501734568 @default.
• W4381435683 hasConceptScore W4381435683C54355233 @default.
• W4381435683 hasConceptScore W4381435683C55493867 @default.
• W4381435683 hasConceptScore W4381435683C71924100 @default.
• W4381435683 hasConceptScore W4381435683C86803240 @default.

• next