FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2612125974> ?p ?o ?g. }

• W2612125974 endingPage "G137" @default.
• W2612125974 startingPage "G129" @default.
• W2612125974 abstract "Na + /H + exchanger NHE3 mediates the majority of intestinal and renal electroneutral sodium absorption. Dysfunction of NHE3 is associated with a variety of diarrheal diseases. We previously reported that the NHE3 gene ( SLC9A3) has more than 400 single-nucleotide polymorphisms (SNPs) but few nonsynonymous polymorphisms. Among the latter, one polymorphism (rs2247114-G>A), which causes a substitution from arginine to cysteine at amino acid position 799 (p.R799C), is common in Asian populations. To improve our understanding of the population distribution and potential clinical significance of the NHE3-799C variant, we investigated the frequency of this polymorphism in different ethnic groups using bioinformatics analyses and in a cohort of Japanese patients with cardiovascular or renal disease. We also characterized the function of human NHE3-799C and its sensitivity to regulatory ligands in an in vitro model. NHE3-799C had an allele frequency of 29.5–57.6% in Asian populations, 11.1–23.6% in European populations, and 10.2–22.7% in African populations. PS120/FLAG-NHERF2 fibroblasts stably expressing NHE3-799C had lower total protein expression but a higher percentage of surface expression than those expressing NHE3-799R. NHE3-799C had similar basal activity to NHE3-799R and was similarly stimulated or inhibited, by serum or forskolin, respectively. Tenapanor, a small-molecule NHE3 inhibitor, dose-dependently inhibited NHE3-799R and NHE3-799C activities. The IC 50 values of tenapanor for NHE3-799C and NHE3-799R were significantly different, but both were in the nanomolar range. These results suggest that NHE3-799C is a common variant enriched in Asian populations, is not associated with compromised function or abnormal regulation, and is unlikely to contribute to clinical disease. NEW & NOTEWORTHY This study reports results on the functional significance of human NHE3-799C under basal conditions and in response to regulatory ligands, including a novel NHE3 inhibitor called tenapanor. We demonstrate that NHE3-799C is a common variant of NHE3 that is enriched in Asian populations; however, in contrast to our previous studies using rabbit NHE3, its presence seems to have limited clinical significance in humans and is not associated with compromised function or abnormal transport regulation." @default.
• W2612125974 created "2017-05-19" @default.
• W2612125974 creator A5003647892 @default.
• W2612125974 creator A5006412499 @default.
• W2612125974 creator A5020663562 @default.
• W2612125974 creator A5021443559 @default.
• W2612125974 creator A5044859707 @default.
• W2612125974 creator A5052731157 @default.
• W2612125974 creator A5056490527 @default.
• W2612125974 creator A5063993227 @default.
• W2612125974 date "2017-08-01" @default.
• W2612125974 modified "2023-10-16" @default.
• W2612125974 title "A common NHE3 single-nucleotide polymorphism has normal function and sensitivity to regulatory ligands" @default.
• W2612125974 cites W1565223184 @default.
• W2612125974 cites W1589657989 @default.
• W2612125974 cites W1826846001 @default.
• W2612125974 cites W1963756706 @default.
• W2612125974 cites W1972149776 @default.
• W2612125974 cites W1974257482 @default.
• W2612125974 cites W1980740976 @default.
• W2612125974 cites W1987557320 @default.
• W2612125974 cites W2001879053 @default.
• W2612125974 cites W2011117142 @default.
• W2612125974 cites W2018154888 @default.
• W2612125974 cites W2059145105 @default.
• W2612125974 cites W2108496504 @default.
• W2612125974 cites W2137980735 @default.
• W2612125974 cites W2146615272 @default.
• W2612125974 cites W2160411670 @default.
• W2612125974 cites W2190931422 @default.
• W2612125974 cites W2400485608 @default.
• W2612125974 cites W2400941158 @default.
• W2612125974 cites W2462905742 @default.
• W2612125974 cites W2593621488 @default.
• W2612125974 cites W4252232449 @default.
• W2612125974 doi "https://doi.org/10.1152/ajpgi.00044.2017" @default.
• W2612125974 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5582881" @default.
• W2612125974 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28495802" @default.
• W2612125974 hasPublicationYear "2017" @default.
• W2612125974 type Work @default.
• W2612125974 sameAs 2612125974 @default.
• W2612125974 citedByCount "3" @default.
• W2612125974 countsByYear W26121259742018 @default.
• W2612125974 countsByYear W26121259742022 @default.
• W2612125974 crossrefType "journal-article" @default.
• W2612125974 hasAuthorship W2612125974A5003647892 @default.
• W2612125974 hasAuthorship W2612125974A5006412499 @default.
• W2612125974 hasAuthorship W2612125974A5020663562 @default.
• W2612125974 hasAuthorship W2612125974A5021443559 @default.
• W2612125974 hasAuthorship W2612125974A5044859707 @default.
• W2612125974 hasAuthorship W2612125974A5052731157 @default.
• W2612125974 hasAuthorship W2612125974A5056490527 @default.
• W2612125974 hasAuthorship W2612125974A5063993227 @default.
• W2612125974 hasBestOaLocation W26121259741 @default.
• W2612125974 hasConcept C104317684 @default.
• W2612125974 hasConcept C114574056 @default.
• W2612125974 hasConcept C135763542 @default.
• W2612125974 hasConcept C149011108 @default.
• W2612125974 hasConcept C153209595 @default.
• W2612125974 hasConcept C153911025 @default.
• W2612125974 hasConcept C168785527 @default.
• W2612125974 hasConcept C178790620 @default.
• W2612125974 hasConcept C185592680 @default.
• W2612125974 hasConcept C2777468819 @default.
• W2612125974 hasConcept C515207424 @default.
• W2612125974 hasConcept C537181965 @default.
• W2612125974 hasConcept C54355233 @default.
• W2612125974 hasConcept C86803240 @default.
• W2612125974 hasConceptScore W2612125974C104317684 @default.
• W2612125974 hasConceptScore W2612125974C114574056 @default.
• W2612125974 hasConceptScore W2612125974C135763542 @default.
• W2612125974 hasConceptScore W2612125974C149011108 @default.
• W2612125974 hasConceptScore W2612125974C153209595 @default.
• W2612125974 hasConceptScore W2612125974C153911025 @default.
• W2612125974 hasConceptScore W2612125974C168785527 @default.
• W2612125974 hasConceptScore W2612125974C178790620 @default.
• W2612125974 hasConceptScore W2612125974C185592680 @default.
• W2612125974 hasConceptScore W2612125974C2777468819 @default.
• W2612125974 hasConceptScore W2612125974C515207424 @default.
• W2612125974 hasConceptScore W2612125974C537181965 @default.
• W2612125974 hasConceptScore W2612125974C54355233 @default.
• W2612125974 hasConceptScore W2612125974C86803240 @default.
• W2612125974 hasFunder F4320307770 @default.
• W2612125974 hasFunder F4320332161 @default.
• W2612125974 hasIssue "2" @default.
• W2612125974 hasLocation W26121259741 @default.
• W2612125974 hasLocation W26121259742 @default.
• W2612125974 hasLocation W26121259743 @default.
• W2612125974 hasLocation W26121259744 @default.
• W2612125974 hasOpenAccess W2612125974 @default.
• W2612125974 hasPrimaryLocation W26121259741 @default.
• W2612125974 hasRelatedWork W1991523530 @default.
• W2612125974 hasRelatedWork W2002128513 @default.
• W2612125974 hasRelatedWork W2020824267 @default.
• W2612125974 hasRelatedWork W2031436818 @default.
• W2612125974 hasRelatedWork W2034858957 @default.
• W2612125974 hasRelatedWork W2057739827 @default.
• W2612125974 hasRelatedWork W2075354549 @default.

• next