LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 2 of total 2

Search options

  1. Article ; Online: Letter to the Editor.

    Vergine, Gianluca / Fabbri, Elena / Conte, Maria L / La Torre, Michele / Dell'Omo, Valeria / Ronchi, Flavio

    Journal of paediatrics and child health

    2020  Volume 56, Issue 3, Page(s) 490–491

    Language English
    Publishing date 2020-03-16
    Publishing country Australia
    Document type Letter
    ZDB-ID 1024476-1
    ISSN 1440-1754 ; 1034-4810
    ISSN (online) 1440-1754
    ISSN 1034-4810
    DOI 10.1111/jpc.14838
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 227: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

    Servedio, Veronica / d'Apolito, Maria / Maiorano, Nunzia / Minuti, Barbara / Torricelli, Francesca / Ronchi, Flavio / Zancan, Lucia / Perrotta, Silverio / Vajro, Pietro / Boschetto, Loredana / Iolascon, Achille

    Human mutation

    2005  Volume 25, Issue 3, Page(s) 325

    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 ... ...

    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 not 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.
    MeSH term(s) Alleles ; Amino Acid Substitution ; Bilirubin/blood ; Codon, Nonsense ; Cohort Studies ; Consanguinity ; Crigler-Najjar Syndrome/classification ; Crigler-Najjar Syndrome/genetics ; Croatia/ethnology ; European Continental Ancestry Group/genetics ; Exons/genetics ; Female ; Genotype ; Glucuronosyltransferase/chemistry ; Glucuronosyltransferase/deficiency ; Glucuronosyltransferase/genetics ; Humans ; Introns/genetics ; Italy ; Male ; Morocco/ethnology ; Mutation, Missense ; Phenotype ; Point Mutation ; Polymorphism, Genetic ; Promoter Regions, Genetic/genetics ; RNA Splice Sites/genetics ; Sequence Deletion
    Chemical Substances Codon, Nonsense ; RNA Splice Sites ; UGT1A1 enzyme (EC 2.4.1.-) ; Glucuronosyltransferase (EC 2.4.1.17) ; Bilirubin (RFM9X3LJ49)
    Language English
    Publishing date 2005-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.9322
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3586: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top