Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034157847> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2034157847 abstract "Gilbert syndrome is an inborn error of bilirubin conjugation caused by mutations in the conjugating enzyme uridine diphosphate glucuronyltransferase (UGT1A1) (1). UGT1A1 activity is moderately reduced in Gilbert syndrome, causing low-grade nonhemolytic unconjugated hyperbilirubinemia without other biochemical or clinical features of hepatic or hematologic pathology. Bilirubin concentrations typically fluctuate over time and tend to be increased in response to metabolic stress such as intercurrent illness and fasting(2).The clinical importance of Gilbert syndrome derives from its high population prevalence. The causative mutation in Caucasians is almost exclusively a dinucleotide insertion in the TATA box of the UGT1A1 promoter. The most common UGT1A1 promoter contains the sequence (TA)6TAA; insertion of an extra TA reduces expression of the UGT1A1 gene to 20%–30% of reference values (3). The frequency of the (TA)7TAA allele (also known as UGT1A1*28 ) in the Caucasian population is ∼0.35; therefore, nearly all Caucasians with Gilbert syndrome are homozygous for this allele(4). UGT1A1*28 is less frequent in Asians. A significant proportion of Asians with Gilbert syndrome have UGT1A1*28 as one mutant allele, but other substitutions that diminish UGT1A1 activity are more common, including p.G71R and p.P229Q(5). Indeed, given the frequency of UGT1A1*28 , 10%–15% of Caucasians are homozygous for this allele; however, the prevalence of clinical Gilbert syndrome has been estimated at 5%. The difference between these 2 values may reflect an ascertainment bias, relatively low penetrance of UGT1A1*28 homozygosity, or a combination of both(1)(3)A variety of assays adaptable for clinical use can detect the UGT1A1*28 allele, such as polyacrylamide gel electrophoresis (PAGE), direct sequencing, fluorescence resonance energy transfer with melting curve analysis, pyrosequencing, and denaturing HPLC [(dHPLC); reviewed in Ref. (6)]. We used dHPLC to separate fragments based on size rather than heteroduplex melting characteristics as …" @default.
- W2034157847 created "2016-06-24" @default.
- W2034157847 creator A5015335878 @default.
- W2034157847 creator A5038923266 @default.
- W2034157847 date "2005-11-01" @default.
- W2034157847 modified "2023-10-16" @default.
- W2034157847 title "Use of Fully Denaturing HPLC for UGT1A1 Genotyping in Gilbert Syndrome" @default.
- W2034157847 cites W1837529512 @default.
- W2034157847 cites W1899404936 @default.
- W2034157847 cites W2022416076 @default.
- W2034157847 cites W2061377178 @default.
- W2034157847 cites W2091200407 @default.
- W2034157847 cites W2097579242 @default.
- W2034157847 cites W2099684386 @default.
- W2034157847 cites W2128573586 @default.
- W2034157847 cites W2144016338 @default.
- W2034157847 cites W2322536880 @default.
- W2034157847 cites W2330452950 @default.
- W2034157847 cites W4235248160 @default.
- W2034157847 doi "https://doi.org/10.1373/clinchem.2005.054429" @default.
- W2034157847 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16244298" @default.
- W2034157847 hasPublicationYear "2005" @default.
- W2034157847 type Work @default.
- W2034157847 sameAs 2034157847 @default.
- W2034157847 citedByCount "14" @default.
- W2034157847 countsByYear W20341578472014 @default.
- W2034157847 countsByYear W20341578472017 @default.
- W2034157847 countsByYear W20341578472018 @default.
- W2034157847 countsByYear W20341578472021 @default.
- W2034157847 crossrefType "journal-article" @default.
- W2034157847 hasAuthorship W2034157847A5015335878 @default.
- W2034157847 hasAuthorship W2034157847A5038923266 @default.
- W2034157847 hasBestOaLocation W20341578471 @default.
- W2034157847 hasConcept C104317684 @default.
- W2034157847 hasConcept C126322002 @default.
- W2034157847 hasConcept C127716648 @default.
- W2034157847 hasConcept C134018914 @default.
- W2034157847 hasConcept C135763542 @default.
- W2034157847 hasConcept C180754005 @default.
- W2034157847 hasConcept C200544954 @default.
- W2034157847 hasConcept C202751555 @default.
- W2034157847 hasConcept C2776365762 @default.
- W2034157847 hasConcept C2777513400 @default.
- W2034157847 hasConcept C2781278898 @default.
- W2034157847 hasConcept C2908647359 @default.
- W2034157847 hasConcept C31467283 @default.
- W2034157847 hasConcept C37463918 @default.
- W2034157847 hasConcept C54355233 @default.
- W2034157847 hasConcept C71924100 @default.
- W2034157847 hasConcept C86803240 @default.
- W2034157847 hasConcept C87644729 @default.
- W2034157847 hasConcept C90924648 @default.
- W2034157847 hasConcept C99454951 @default.
- W2034157847 hasConceptScore W2034157847C104317684 @default.
- W2034157847 hasConceptScore W2034157847C126322002 @default.
- W2034157847 hasConceptScore W2034157847C127716648 @default.
- W2034157847 hasConceptScore W2034157847C134018914 @default.
- W2034157847 hasConceptScore W2034157847C135763542 @default.
- W2034157847 hasConceptScore W2034157847C180754005 @default.
- W2034157847 hasConceptScore W2034157847C200544954 @default.
- W2034157847 hasConceptScore W2034157847C202751555 @default.
- W2034157847 hasConceptScore W2034157847C2776365762 @default.
- W2034157847 hasConceptScore W2034157847C2777513400 @default.
- W2034157847 hasConceptScore W2034157847C2781278898 @default.
- W2034157847 hasConceptScore W2034157847C2908647359 @default.
- W2034157847 hasConceptScore W2034157847C31467283 @default.
- W2034157847 hasConceptScore W2034157847C37463918 @default.
- W2034157847 hasConceptScore W2034157847C54355233 @default.
- W2034157847 hasConceptScore W2034157847C71924100 @default.
- W2034157847 hasConceptScore W2034157847C86803240 @default.
- W2034157847 hasConceptScore W2034157847C87644729 @default.
- W2034157847 hasConceptScore W2034157847C90924648 @default.
- W2034157847 hasConceptScore W2034157847C99454951 @default.
- W2034157847 hasLocation W20341578471 @default.
- W2034157847 hasLocation W20341578472 @default.
- W2034157847 hasOpenAccess W2034157847 @default.
- W2034157847 hasPrimaryLocation W20341578471 @default.
- W2034157847 hasRelatedWork W1501950790 @default.
- W2034157847 hasRelatedWork W2046024352 @default.
- W2034157847 hasRelatedWork W2055781229 @default.
- W2034157847 hasRelatedWork W2095306786 @default.
- W2034157847 hasRelatedWork W2145213465 @default.
- W2034157847 hasRelatedWork W2189200885 @default.
- W2034157847 hasRelatedWork W2352674505 @default.
- W2034157847 hasRelatedWork W2360903818 @default.
- W2034157847 hasRelatedWork W2405302437 @default.
- W2034157847 hasRelatedWork W2417209194 @default.
- W2034157847 isParatext "false" @default.
- W2034157847 isRetracted "false" @default.
- W2034157847 magId "2034157847" @default.
- W2034157847 workType "article" @default.