9 research outputs found

    Pyrimidine metabolism in hereditary orotic aciduria

    No full text

    Journal of Digital Research & Publishing Semester 1 2010 (7pm class)

    No full text
    The Journal of Digital Communication and Culture is a publication created by students of ARIN6912 Digital Research and Publishing. This unit of study is part of the Master of Digital Communication and Culture taught by the Digital Cultures Program in the School of Letters, Art, and Media. For more information contact Chris Chesher ([email protected]). CONTENTS (TITLE/AUTHOR): Lost online: TV series as multi-author, multi-platform metafictions (César Albarrán Torres) // Join the Group: Facebook (Marta Conejo Sobrino) // Is Twitter making news more interpersonal? (Ella Pong) // Love or Lies: Deception in internet dating (Bridget Slater) // To be or not to be: T.Sina in China (Jin Xing) // Cyberbullying and the “Net Generation” (Annie Chiv) // The rise of social media and the creation of a new digital divide (Allen Liu) // Building the Wheel: Popular Education in the Digital Era (Dan O’Reilly-Rowe) // Publishers Attempt To Reconnect With Readers (Kim Kooren) // Blooks: A New Era of Literature? (Amanda Lansdowne) // The ‘Death of the Author’ and the birth of the reader? (Tamsin Lloyd) // Crisis Communications and New Media (Tom Champion) // The Influence of Online Reviews (Amy Fong) // I Blog. You Buy. (Miren Mendoza) // ‘Will 2020 still be a Great Year to be a Fashion Blogger?’ (Kate Pagett) // The Necessity for Social Media Plans in Business Strategies (Alicia Fong Yee Shum

    Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

    Get PDF
    Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable clinical phenotype. This disease might be associated with a risk of 5-fluorouracil toxicity, although no cases have been reported. We present here both the molecular characterization of the human DHP gene and, for the first time, the mutations causing DHP deficiency. The human DHP gene spans >80 kb and consists of 10 exons. It has been assigned to 8q22, by FISH. We performed mutation analysis of genomic DNA in one symptomatic and five asymptomatic individuals presenting with dihydropyrimidinuria. We identified one frameshift mutation and five missense mutations. Two related Japanese adult subjects were homozygous for the Q334R substitution, whereas two other, unrelated Japanese infant subjects were heterozygous for the same mutation, but this mutation is not common in the Japanese population. A Caucasian pediatric patient exhibiting epileptic attacks, dysmorphic features, and severe developmental delay was homozygous for W360R. Using a eukaryotic expression system, we showed that all mutations reduced enzyme activity significantly, indicating that these are crucial DHP deficiency-causing mutations. There was no significant difference, in residual activity, between mutations observed in the symptomatic and those observed in the asymptomatic individuals
    corecore