FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2111107943> ?p ?o ?g. }

• W2111107943 endingPage "1199" @default.
• W2111107943 startingPage "1193" @default.
• W2111107943 abstract "The syndrome of apparent mineralocorticoid excess is a form of hypertension inherited in an autosomal recessive manner. This disorder results from mutations in the HSD11K (HSD11B2) gene, which encodes the kidney isozyme of 11beta-hydroxysteroid dehydrogenase. This enzyme converts active glucocorticoids such as cortisol and corticosterone to their inactive metabolites cortisone and 11-dehydrocorticosterone. An elevated ratio of cortisol to cortisone metabolites in the urine (tetrahydrocortisol plus allotetrahydrocortisol to tetrahydrocortisone [(THF+aTHF)/THE]) is considered pathognomic for this disorder. To determine whether the biochemical phenotype of this disorder is correlated with genotype, we expressed enzymes carrying each of the six known missense mutations in cultured cells. Only one mutant, R337C, had detectable activity in cell lysates, but five of six mutants were partially active in whole cells. Apparent kinetic constants for cortisol and corticosterone were determined in whole cells, and the apparent first-order rate constant, Vmax/Km, was used as a measure of enzymatic activity. The urinary (THF+aTHF)/THE ratio in patients carrying each mutation was strongly correlated with in vitro enzymatic activity of the corresponding mutant (r=.839, P=.001 with cortisol as the substrate). We conclude that the biochemical phenotype of the syndrome of apparent mineralocorticoid excess is largely determined by genotype." @default.
• W2111107943 created "2016-06-24" @default.
• W2111107943 creator A5018784420 @default.
• W2111107943 creator A5033634039 @default.
• W2111107943 date "1996-06-01" @default.
• W2111107943 modified "2023-09-24" @default.
• W2111107943 title "Apparent Mineralocorticoid Excess" @default.
• W2111107943 cites W1264829970 @default.
• W2111107943 cites W1491643288 @default.
• W2111107943 cites W1519525780 @default.
• W2111107943 cites W1563095952 @default.
• W2111107943 cites W1578442529 @default.
• W2111107943 cites W1615328259 @default.
• W2111107943 cites W1966962224 @default.
• W2111107943 cites W1979435440 @default.
• W2111107943 cites W2015497140 @default.
• W2111107943 cites W2019033138 @default.
• W2111107943 cites W2031973145 @default.
• W2111107943 cites W2034652601 @default.
• W2111107943 cites W2047100316 @default.
• W2111107943 cites W2047403541 @default.
• W2111107943 cites W2059708085 @default.
• W2111107943 cites W2063773959 @default.
• W2111107943 cites W2119656835 @default.
• W2111107943 cites W2120594372 @default.
• W2111107943 cites W2148114970 @default.
• W2111107943 cites W2156297922 @default.
• W2111107943 cites W3022669110 @default.
• W2111107943 doi "https://doi.org/10.1161/01.hyp.27.6.1193" @default.
• W2111107943 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8641723" @default.
• W2111107943 hasPublicationYear "1996" @default.
• W2111107943 type Work @default.
• W2111107943 sameAs 2111107943 @default.
• W2111107943 citedByCount "76" @default.
• W2111107943 countsByYear W21111079432012 @default.
• W2111107943 countsByYear W21111079432013 @default.
• W2111107943 countsByYear W21111079432014 @default.
• W2111107943 countsByYear W21111079432015 @default.
• W2111107943 countsByYear W21111079432017 @default.
• W2111107943 countsByYear W21111079432018 @default.
• W2111107943 countsByYear W21111079432019 @default.
• W2111107943 countsByYear W21111079432022 @default.
• W2111107943 countsByYear W21111079432023 @default.
• W2111107943 crossrefType "journal-article" @default.
• W2111107943 hasAuthorship W2111107943A5018784420 @default.
• W2111107943 hasAuthorship W2111107943A5033634039 @default.
• W2111107943 hasConcept C104317684 @default.
• W2111107943 hasConcept C119795356 @default.
• W2111107943 hasConcept C126322002 @default.
• W2111107943 hasConcept C134018914 @default.
• W2111107943 hasConcept C135763542 @default.
• W2111107943 hasConcept C143065580 @default.
• W2111107943 hasConcept C181199279 @default.
• W2111107943 hasConcept C185592680 @default.
• W2111107943 hasConcept C2776069600 @default.
• W2111107943 hasConcept C2778525890 @default.
• W2111107943 hasConcept C2780352252 @default.
• W2111107943 hasConcept C2780484280 @default.
• W2111107943 hasConcept C2780841215 @default.
• W2111107943 hasConcept C501734568 @default.
• W2111107943 hasConcept C55493867 @default.
• W2111107943 hasConcept C71315377 @default.
• W2111107943 hasConcept C71924100 @default.
• W2111107943 hasConcept C75563809 @default.
• W2111107943 hasConcept C86803240 @default.
• W2111107943 hasConceptScore W2111107943C104317684 @default.
• W2111107943 hasConceptScore W2111107943C119795356 @default.
• W2111107943 hasConceptScore W2111107943C126322002 @default.
• W2111107943 hasConceptScore W2111107943C134018914 @default.
• W2111107943 hasConceptScore W2111107943C135763542 @default.
• W2111107943 hasConceptScore W2111107943C143065580 @default.
• W2111107943 hasConceptScore W2111107943C181199279 @default.
• W2111107943 hasConceptScore W2111107943C185592680 @default.
• W2111107943 hasConceptScore W2111107943C2776069600 @default.
• W2111107943 hasConceptScore W2111107943C2778525890 @default.
• W2111107943 hasConceptScore W2111107943C2780352252 @default.
• W2111107943 hasConceptScore W2111107943C2780484280 @default.
• W2111107943 hasConceptScore W2111107943C2780841215 @default.
• W2111107943 hasConceptScore W2111107943C501734568 @default.
• W2111107943 hasConceptScore W2111107943C55493867 @default.
• W2111107943 hasConceptScore W2111107943C71315377 @default.
• W2111107943 hasConceptScore W2111107943C71924100 @default.
• W2111107943 hasConceptScore W2111107943C75563809 @default.
• W2111107943 hasConceptScore W2111107943C86803240 @default.
• W2111107943 hasIssue "6" @default.
• W2111107943 hasLocation W21111079431 @default.
• W2111107943 hasLocation W21111079432 @default.
• W2111107943 hasOpenAccess W2111107943 @default.
• W2111107943 hasPrimaryLocation W21111079431 @default.
• W2111107943 hasRelatedWork W1967659878 @default.
• W2111107943 hasRelatedWork W2017346924 @default.
• W2111107943 hasRelatedWork W2037408526 @default.
• W2111107943 hasRelatedWork W2040037663 @default.
• W2111107943 hasRelatedWork W2044827976 @default.
• W2111107943 hasRelatedWork W2092088194 @default.
• W2111107943 hasRelatedWork W2101834938 @default.
• W2111107943 hasRelatedWork W2530319271 @default.
• W2111107943 hasRelatedWork W2607356200 @default.

• next