FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2174393896> ?p ?o ?g. }

• W2174393896 endingPage "1554" @default.
• W2174393896 startingPage "1544" @default.
• W2174393896 abstract "Mutations in the vacuolar-type H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA). We previously identified a single-nucleotide polymorphism (SNP) in the human B1 subunit (c.481G>A; p.E161K) that causes greatly diminished pump function in vitro To investigate the effect of this SNP on urinary acidification, we conducted a genotype-phenotype analysis of recurrent stone formers in the Dallas and Bern kidney stone registries. Of 555 patients examined, 32 (5.8%) were heterozygous for the p.E161K SNP, and the remaining 523 (94.2%) carried two wild-type alleles. After adjustment for sex, age, body mass index, and dietary acid and alkali intake, p.E161K SNP carriers had a nonsignificant tendency to higher urinary pH on a random diet (6.31 versus 6.09; P=0.09). Under an instructed low-Ca and low-Na diet, urinary pH was higher in p.E161K SNP carriers (6.56 versus 6.01; P<0.01). Kidney stones of p.E161K carriers were more likely to contain calcium phosphate than stones of wild-type patients. In acute NH4Cl loading, p.E161K carriers displayed a higher trough urinary pH (5.34 versus 4.89; P=0.01) than wild-type patients. Overall, 14.6% of wild-type patients and 52.4% of p.E161K carriers were unable to acidify their urine below pH 5.3 and thus, can be considered to have incomplete dRTA. In summary, our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones. The burden of E161K heterozygosity may be a forme fruste of dRTA." @default.
• W2174393896 created "2016-06-24" @default.
• W2174393896 creator A5005633106 @default.
• W2174393896 creator A5011188514 @default.
• W2174393896 creator A5022018506 @default.
• W2174393896 creator A5022408922 @default.
• W2174393896 creator A5023488815 @default.
• W2174393896 creator A5042381619 @default.
• W2174393896 creator A5048960429 @default.
• W2174393896 creator A5051411130 @default.
• W2174393896 creator A5052685330 @default.
• W2174393896 creator A5082676421 @default.
• W2174393896 date "2015-10-09" @default.
• W2174393896 modified "2023-10-12" @default.
• W2174393896 title "The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers" @default.
• W2174393896 cites W1506363772 @default.
• W2174393896 cites W1551014578 @default.
• W2174393896 cites W1581489141 @default.
• W2174393896 cites W1969552827 @default.
• W2174393896 cites W1972815540 @default.
• W2174393896 cites W1975528985 @default.
• W2174393896 cites W1990286147 @default.
• W2174393896 cites W1996499484 @default.
• W2174393896 cites W2000396915 @default.
• W2174393896 cites W2008108694 @default.
• W2174393896 cites W2014499368 @default.
• W2174393896 cites W2021202601 @default.
• W2174393896 cites W2034406317 @default.
• W2174393896 cites W2044539436 @default.
• W2174393896 cites W2047445679 @default.
• W2174393896 cites W2059145105 @default.
• W2174393896 cites W2074587907 @default.
• W2174393896 cites W2074860742 @default.
• W2174393896 cites W2092599461 @default.
• W2174393896 cites W2155965977 @default.
• W2174393896 cites W2162373076 @default.
• W2174393896 cites W2163408022 @default.
• W2174393896 cites W2169941765 @default.
• W2174393896 cites W2172066856 @default.
• W2174393896 cites W2272639609 @default.
• W2174393896 cites W2326920106 @default.
• W2174393896 cites W2418477320 @default.
• W2174393896 cites W2441177568 @default.
• W2174393896 cites W2607031541 @default.
• W2174393896 cites W3142959767 @default.
• W2174393896 cites W6323710 @default.
• W2174393896 doi "https://doi.org/10.1681/asn.2015040367" @default.
• W2174393896 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4849828" @default.
• W2174393896 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26453614" @default.
• W2174393896 hasPublicationYear "2015" @default.
• W2174393896 type Work @default.
• W2174393896 sameAs 2174393896 @default.
• W2174393896 citedByCount "46" @default.
• W2174393896 countsByYear W21743938962016 @default.
• W2174393896 countsByYear W21743938962017 @default.
• W2174393896 countsByYear W21743938962018 @default.
• W2174393896 countsByYear W21743938962019 @default.
• W2174393896 countsByYear W21743938962020 @default.
• W2174393896 countsByYear W21743938962021 @default.
• W2174393896 countsByYear W21743938962022 @default.
• W2174393896 countsByYear W21743938962023 @default.
• W2174393896 crossrefType "journal-article" @default.
• W2174393896 hasAuthorship W2174393896A5005633106 @default.
• W2174393896 hasAuthorship W2174393896A5011188514 @default.
• W2174393896 hasAuthorship W2174393896A5022018506 @default.
• W2174393896 hasAuthorship W2174393896A5022408922 @default.
• W2174393896 hasAuthorship W2174393896A5023488815 @default.
• W2174393896 hasAuthorship W2174393896A5042381619 @default.
• W2174393896 hasAuthorship W2174393896A5048960429 @default.
• W2174393896 hasAuthorship W2174393896A5051411130 @default.
• W2174393896 hasAuthorship W2174393896A5052685330 @default.
• W2174393896 hasAuthorship W2174393896A5082676421 @default.
• W2174393896 hasBestOaLocation W21743938961 @default.
• W2174393896 hasConcept C104317684 @default.
• W2174393896 hasConcept C126322002 @default.
• W2174393896 hasConcept C134018914 @default.
• W2174393896 hasConcept C135763542 @default.
• W2174393896 hasConcept C139275648 @default.
• W2174393896 hasConcept C143065580 @default.
• W2174393896 hasConcept C153209595 @default.
• W2174393896 hasConcept C185592680 @default.
• W2174393896 hasConcept C207583985 @default.
• W2174393896 hasConcept C2776598079 @default.
• W2174393896 hasConcept C2778553927 @default.
• W2174393896 hasConcept C2779246250 @default.
• W2174393896 hasConcept C2780026642 @default.
• W2174393896 hasConcept C2781079508 @default.
• W2174393896 hasConcept C55493867 @default.
• W2174393896 hasConcept C71924100 @default.
• W2174393896 hasConcept C77411442 @default.
• W2174393896 hasConceptScore W2174393896C104317684 @default.
• W2174393896 hasConceptScore W2174393896C126322002 @default.
• W2174393896 hasConceptScore W2174393896C134018914 @default.
• W2174393896 hasConceptScore W2174393896C135763542 @default.
• W2174393896 hasConceptScore W2174393896C139275648 @default.
• W2174393896 hasConceptScore W2174393896C143065580 @default.
• W2174393896 hasConceptScore W2174393896C153209595 @default.
• W2174393896 hasConceptScore W2174393896C185592680 @default.

• next