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Journal Abstract Search

209 related items for PubMed ID: 22692683

  • 1. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
    Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR.
    Hum Mol Genet; 2012 Sep 15; 21(18):3969-83. PubMed ID: 22692683
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  • 6. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
    Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE, additional individual contributors.
    J Inherit Metab Dis; 2017 May 15; 40(3):423-431. PubMed ID: 28205048
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  • 8. A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function.
    Levitte S, Salesky R, King B, Coe Smith S, Depper M, Cole M, Hermann GJ.
    FEBS J; 2010 Mar 15; 277(6):1420-39. PubMed ID: 20148972
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  • 9. Inhibition of the de novo pyrimidine biosynthesis pathway limits ribosomal RNA transcription causing nucleolar stress in glioblastoma cells.
    Lafita-Navarro MC, Venkateswaran N, Kilgore JA, Kanji S, Han J, Barnes S, Williams NS, Buszczak M, Burma S, Conacci-Sorrell M.
    PLoS Genet; 2020 Nov 15; 16(11):e1009117. PubMed ID: 33201894
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  • 13. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
    Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y.
    Am J Hum Genet; 1997 Mar 15; 60(3):525-39. PubMed ID: 9042911
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  • 14. Orotic aciduria and uridine monophosphate synthase: a reappraisal.
    Bailey CJ.
    J Inherit Metab Dis; 2009 Dec 15; 32 Suppl 1():S227-33. PubMed ID: 19562503
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  • 15. Functional analysis of the pyrimidine de novo synthesis pathway in solanaceous species.
    Schröder M, Giermann N, Zrenner R.
    Plant Physiol; 2005 Aug 15; 138(4):1926-38. PubMed ID: 16024685
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  • 18. Molecular biology and biochemistry of malarial parasite pyrimidine biosynthetic pathway.
    Krungkrai J, Prapunwatana P, Wichitkul C, Reungprapavut S, Krungkrai SR, Horii T.
    Southeast Asian J Trop Med Public Health; 2003 Aug 15; 34 Suppl 2():32-43. PubMed ID: 19230569
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