FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3185508977> ?p ?o ?g. }

• W3185508977 endingPage "111399" @default.
• W3185508977 startingPage "111399" @default.
• W3185508977 abstract "Lifelong glucocorticoid (GC) replacement is the mainstay treatment of congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency (21-OHD). Challenges posed by therapeutic management of these patients are well known, but novel insights into the variability in clinical response to GC highlight a role for single nucleotide polymorphisms (SNPs) of the glucocorticoid receptor gene (NR3C1).To assess whether six commonly studied NR3C1 SNPs, which were previously associated with modified response to GC, are associated with CAH. We further assessed the linkage disequilibrium (LD) among these NR3C1 SNPs and their combination into haplotypes.Genotypes were determined by Taqman allele discrimination assays for Tth111I (rs10052957), ER22 (rs6189), 23 EK (rs6190), N363S (rs56149945), BclI (rs41423247) and 9β (rs6198) in a Brazilian cohort of 102 unrelated 21-OHD patients and 163 unrelated healthy subjects (controls). Haplotypes were estimated using Haplo.stats, and LD among SNPs using Haploview.Heterozygous subjects for Tth111I were more frequent in 21-OHD patients (P = 0.004), while heterozygous for BclI were more frequent in controls (P = 0.049). We found a strong LD among the six NR3C1 SNPs, and four out of six common haplotypes contained the Tth111I-variant. Although we found no significant differences in overall haplotype analysis, the BclI-haplotype was less frequent among 21-OHD patients (P = 0.0180).BclI-haplotype was less common and heterozygous for Tth111I were more frequent in 21-OHD patients, while heterozygous for BclI were more frequent in controls. Our novel findings may contribute to further clinical studies on the prognostic value of NR3C1 haplotypes towards individualized treatment for 21-OHD patients." @default.
• W3185508977 created "2021-08-02" @default.
• W3185508977 creator A5000403462 @default.
• W3185508977 creator A5002423831 @default.
• W3185508977 creator A5025836897 @default.
• W3185508977 creator A5038392844 @default.
• W3185508977 creator A5054615839 @default.
• W3185508977 creator A5076456851 @default.
• W3185508977 date "2021-10-01" @default.
• W3185508977 modified "2023-09-23" @default.
• W3185508977 title "Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia" @default.
• W3185508977 cites W1582154931 @default.
• W3185508977 cites W1968912786 @default.
• W3185508977 cites W1972009144 @default.
• W3185508977 cites W1995035612 @default.
• W3185508977 cites W1998188872 @default.
• W3185508977 cites W2002342430 @default.
• W3185508977 cites W2005190469 @default.
• W3185508977 cites W2005668937 @default.
• W3185508977 cites W2007169317 @default.
• W3185508977 cites W2015357735 @default.
• W3185508977 cites W2019908906 @default.
• W3185508977 cites W2031403268 @default.
• W3185508977 cites W2038779176 @default.
• W3185508977 cites W2045185266 @default.
• W3185508977 cites W2047417387 @default.
• W3185508977 cites W2057862668 @default.
• W3185508977 cites W2058575047 @default.
• W3185508977 cites W2059010948 @default.
• W3185508977 cites W2076225993 @default.
• W3185508977 cites W2077271065 @default.
• W3185508977 cites W2087481810 @default.
• W3185508977 cites W2090430326 @default.
• W3185508977 cites W2104549677 @default.
• W3185508977 cites W2109689940 @default.
• W3185508977 cites W2112491025 @default.
• W3185508977 cites W2113647082 @default.
• W3185508977 cites W2121419568 @default.
• W3185508977 cites W2121669320 @default.
• W3185508977 cites W2126309037 @default.
• W3185508977 cites W2129280386 @default.
• W3185508977 cites W2152833835 @default.
• W3185508977 cites W2162530578 @default.
• W3185508977 cites W2169751448 @default.
• W3185508977 cites W2528797567 @default.
• W3185508977 cites W2789086950 @default.
• W3185508977 cites W2907525977 @default.
• W3185508977 cites W2917867406 @default.
• W3185508977 cites W2954414930 @default.
• W3185508977 cites W2979865036 @default.
• W3185508977 cites W3016832697 @default.
• W3185508977 cites W3089213675 @default.
• W3185508977 cites W4210400066 @default.
• W3185508977 doi "https://doi.org/10.1016/j.mce.2021.111399" @default.
• W3185508977 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34298075" @default.
• W3185508977 hasPublicationYear "2021" @default.
• W3185508977 type Work @default.
• W3185508977 sameAs 3185508977 @default.
• W3185508977 citedByCount "2" @default.
• W3185508977 countsByYear W31855089772022 @default.
• W3185508977 crossrefType "journal-article" @default.
• W3185508977 hasAuthorship W3185508977A5000403462 @default.
• W3185508977 hasAuthorship W3185508977A5002423831 @default.
• W3185508977 hasAuthorship W3185508977A5025836897 @default.
• W3185508977 hasAuthorship W3185508977A5038392844 @default.
• W3185508977 hasAuthorship W3185508977A5054615839 @default.
• W3185508977 hasAuthorship W3185508977A5076456851 @default.
• W3185508977 hasConcept C104317684 @default.
• W3185508977 hasConcept C126322002 @default.
• W3185508977 hasConcept C134018914 @default.
• W3185508977 hasConcept C135763542 @default.
• W3185508977 hasConcept C153209595 @default.
• W3185508977 hasConcept C180754005 @default.
• W3185508977 hasConcept C197754878 @default.
• W3185508977 hasConcept C2777767042 @default.
• W3185508977 hasConcept C2780841215 @default.
• W3185508977 hasConcept C35605836 @default.
• W3185508977 hasConcept C54355233 @default.
• W3185508977 hasConcept C59493245 @default.
• W3185508977 hasConcept C71924100 @default.
• W3185508977 hasConcept C86803240 @default.
• W3185508977 hasConceptScore W3185508977C104317684 @default.
• W3185508977 hasConceptScore W3185508977C126322002 @default.
• W3185508977 hasConceptScore W3185508977C134018914 @default.
• W3185508977 hasConceptScore W3185508977C135763542 @default.
• W3185508977 hasConceptScore W3185508977C153209595 @default.
• W3185508977 hasConceptScore W3185508977C180754005 @default.
• W3185508977 hasConceptScore W3185508977C197754878 @default.
• W3185508977 hasConceptScore W3185508977C2777767042 @default.
• W3185508977 hasConceptScore W3185508977C2780841215 @default.
• W3185508977 hasConceptScore W3185508977C35605836 @default.
• W3185508977 hasConceptScore W3185508977C54355233 @default.
• W3185508977 hasConceptScore W3185508977C59493245 @default.
• W3185508977 hasConceptScore W3185508977C71924100 @default.
• W3185508977 hasConceptScore W3185508977C86803240 @default.
• W3185508977 hasLocation W31855089771 @default.
• W3185508977 hasLocation W31855089772 @default.
• W3185508977 hasOpenAccess W3185508977 @default.

• next