FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068126682> ?p ?o ?g. }

• W2068126682 endingPage "325" @default.
• W2068126682 startingPage "325" @default.
• W2068126682 abstract "Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity. CN2 presents intermediate levels of hyperbilirubinaemia as a result of an incomplete deficiency of hepatic UGT1A1 activity. Here, we present the analysis of UGT1A1 gene in 31 unrelated Crigler-Najjar (CN) syndrome patients. This analysis allowed us to identify 22 mutations, 12 of which were no previously described, expanding the spectrum of known UGT1 mutations to 77. Novel mutations, considered pathogenic, including one nonsense mutation, two altered splice sites, one single base deletion and nine missense mutations were identified in coding exons of the UGT1A1gene and flanking introns. Several novel missense mutations localize in critical domain of UGT1A1 enzyme. In addition, the evaluation of Gilbert-type promoter of UGT1A1in Crigler-Najjar (CN) syndrome patients was performed. The polymorphisms of the promoter region can modify the UGT1A1 mutation phenotype. This study represents the molecular characterization of the largest cohort of Italian Crigler-Najjar Gilbert syndrome patients studied so far; increase the mutational spectrum of UGT1A1 allelic variants worldwide and provide a new insight useful for clinical diagnosis and genetic counseling. © 2005 Wiley-Liss, Inc." @default.
• W2068126682 created "2016-06-24" @default.
• W2068126682 creator A5001470699 @default.
• W2068126682 creator A5020516240 @default.
• W2068126682 creator A5022755764 @default.
• W2068126682 creator A5028274726 @default.
• W2068126682 creator A5033200554 @default.
• W2068126682 creator A5033580900 @default.
• W2068126682 creator A5039853370 @default.
• W2068126682 creator A5045945097 @default.
• W2068126682 creator A5046643702 @default.
• W2068126682 creator A5054209118 @default.
• W2068126682 creator A5076854299 @default.
• W2068126682 date "2005-01-01" @default.
• W2068126682 modified "2023-10-17" @default.
• W2068126682 title "Spectrum ofUGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation" @default.
• W2068126682 cites W1539070940 @default.
• W2068126682 cites W186326386 @default.
• W2068126682 cites W1940321413 @default.
• W2068126682 cites W1971668178 @default.
• W2068126682 cites W1977362246 @default.
• W2068126682 cites W1991997951 @default.
• W2068126682 cites W1993151460 @default.
• W2068126682 cites W1994924375 @default.
• W2068126682 cites W2008117162 @default.
• W2068126682 cites W2025056076 @default.
• W2068126682 cites W2050135316 @default.
• W2068126682 cites W2063288488 @default.
• W2068126682 cites W2063990241 @default.
• W2068126682 cites W2073557384 @default.
• W2068126682 cites W2074961888 @default.
• W2068126682 cites W2087736333 @default.
• W2068126682 cites W2093915500 @default.
• W2068126682 cites W2112922127 @default.
• W2068126682 cites W2139153560 @default.
• W2068126682 cites W2159558922 @default.
• W2068126682 cites W2167871768 @default.
• W2068126682 cites W2322536880 @default.
• W2068126682 cites W2333763185 @default.
• W2068126682 doi "https://doi.org/10.1002/humu.9322" @default.
• W2068126682 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15712364" @default.
• W2068126682 hasPublicationYear "2005" @default.
• W2068126682 type Work @default.
• W2068126682 sameAs 2068126682 @default.
• W2068126682 citedByCount "53" @default.
• W2068126682 countsByYear W20681266822012 @default.
• W2068126682 countsByYear W20681266822013 @default.
• W2068126682 countsByYear W20681266822014 @default.
• W2068126682 countsByYear W20681266822015 @default.
• W2068126682 countsByYear W20681266822016 @default.
• W2068126682 countsByYear W20681266822018 @default.
• W2068126682 countsByYear W20681266822019 @default.
• W2068126682 countsByYear W20681266822020 @default.
• W2068126682 countsByYear W20681266822021 @default.
• W2068126682 countsByYear W20681266822022 @default.
• W2068126682 countsByYear W20681266822023 @default.
• W2068126682 crossrefType "journal-article" @default.
• W2068126682 hasAuthorship W2068126682A5001470699 @default.
• W2068126682 hasAuthorship W2068126682A5020516240 @default.
• W2068126682 hasAuthorship W2068126682A5022755764 @default.
• W2068126682 hasAuthorship W2068126682A5028274726 @default.
• W2068126682 hasAuthorship W2068126682A5033200554 @default.
• W2068126682 hasAuthorship W2068126682A5033580900 @default.
• W2068126682 hasAuthorship W2068126682A5039853370 @default.
• W2068126682 hasAuthorship W2068126682A5045945097 @default.
• W2068126682 hasAuthorship W2068126682A5046643702 @default.
• W2068126682 hasAuthorship W2068126682A5054209118 @default.
• W2068126682 hasAuthorship W2068126682A5076854299 @default.
• W2068126682 hasBestOaLocation W20681266821 @default.
• W2068126682 hasConcept C104317684 @default.
• W2068126682 hasConcept C12125453 @default.
• W2068126682 hasConcept C127716648 @default.
• W2068126682 hasConcept C135763542 @default.
• W2068126682 hasConcept C180754005 @default.
• W2068126682 hasConcept C36823959 @default.
• W2068126682 hasConcept C501734568 @default.
• W2068126682 hasConcept C54355233 @default.
• W2068126682 hasConcept C62923972 @default.
• W2068126682 hasConcept C75563809 @default.
• W2068126682 hasConcept C86803240 @default.
• W2068126682 hasConcept C96777560 @default.
• W2068126682 hasConcept C97603047 @default.
• W2068126682 hasConceptScore W2068126682C104317684 @default.
• W2068126682 hasConceptScore W2068126682C12125453 @default.
• W2068126682 hasConceptScore W2068126682C127716648 @default.
• W2068126682 hasConceptScore W2068126682C135763542 @default.
• W2068126682 hasConceptScore W2068126682C180754005 @default.
• W2068126682 hasConceptScore W2068126682C36823959 @default.
• W2068126682 hasConceptScore W2068126682C501734568 @default.
• W2068126682 hasConceptScore W2068126682C54355233 @default.
• W2068126682 hasConceptScore W2068126682C62923972 @default.
• W2068126682 hasConceptScore W2068126682C75563809 @default.
• W2068126682 hasConceptScore W2068126682C86803240 @default.
• W2068126682 hasConceptScore W2068126682C96777560 @default.
• W2068126682 hasConceptScore W2068126682C97603047 @default.
• W2068126682 hasIssue "3" @default.
• W2068126682 hasLocation W20681266821 @default.
• W2068126682 hasLocation W20681266822 @default.

• next