212 related articles for article (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; 21(18):3969-83. PubMed ID: 22692683
[TBL] [Abstract][Full Text] [Related]
2. Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Duley JA; Henman MG; Carpenter KH; Bamshad MJ; Marshall GA; Ooi CY; Wilcken B; Pinner JR
Mol Genet Metab; 2016 Sep; 119(1-2):83-90. PubMed ID: 27370710
[TBL] [Abstract][Full Text] [Related]
3. Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Saito T; Takazaki S; Kanki T; Yamaza H; Nonaka K; Kang D
Biosci Rep; 2012 Dec; 32(6):631-9. PubMed ID: 22967083
[TBL] [Abstract][Full Text] [Related]
4. Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.
Fang J; Uchiumi T; Yagi M; Matsumoto S; Amamoto R; Takazaki S; Yamaza H; Nonaka K; Kang D
Biosci Rep; 2013 Feb; 33(2):e00021. PubMed ID: 23216091
[TBL] [Abstract][Full Text] [Related]
5. Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts.
Fang J; Yamaza H; Uchiumi T; Hoshino Y; Masuda K; Hirofuji Y; Wagener FA; Kang D; Nonaka K
Eur J Oral Sci; 2016 Jun; 124(3):241-5. PubMed ID: 27086500
[TBL] [Abstract][Full Text] [Related]
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;
J Inherit Metab Dis; 2017 May; 40(3):423-431. PubMed ID: 28205048
[TBL] [Abstract][Full Text] [Related]
7. Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.
Kinoshita F; Kondoh T; Komori K; Matsui T; Harada N; Yanai A; Fukuda M; Morifuji K; Matsumoto T
Pediatr Int; 2011 Aug; 53(4):587-91. PubMed ID: 21851494
[No Abstract] [Full Text] [Related]
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; 277(6):1420-39. PubMed ID: 20148972
[TBL] [Abstract][Full Text] [Related]
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; 16(11):e1009117. PubMed ID: 33201894
[TBL] [Abstract][Full Text] [Related]
10. Identification of the UMP synthase gene by establishment of uracil auxotrophic mutants and the phenotypic complementation system in the marine diatom Phaeodactylum tricornutum.
Sakaguchi T; Nakajima K; Matsuda Y
Plant Physiol; 2011 May; 156(1):78-89. PubMed ID: 21367966
[TBL] [Abstract][Full Text] [Related]
11. Inhibition of de novo pyrimidine synthesis in growing potato tubers leads to a compensatory stimulation of the pyrimidine salvage pathway and a subsequent increase in biosynthetic performance.
Geigenberger P; Regierer B; Nunes-Nesi A; Leisse A; Urbanczyk-Wochniak E; Springer F; van Dongen JT; Kossmann J; Fernie AR
Plant Cell; 2005 Jul; 17(7):2077-88. PubMed ID: 15951490
[TBL] [Abstract][Full Text] [Related]
12. Trypanosoma brucei (UMP synthase null mutants) are avirulent in mice, but recover virulence upon prolonged culture in vitro while retaining pyrimidine auxotrophy.
Ong HB; Sienkiewicz N; Wyllie S; Patterson S; Fairlamb AH
Mol Microbiol; 2013 Oct; 90(2):443-55. PubMed ID: 23980694
[TBL] [Abstract][Full Text] [Related]
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; 60(3):525-39. PubMed ID: 9042911
[TBL] [Abstract][Full Text] [Related]
14. Orotic aciduria and uridine monophosphate synthase: a reappraisal.
Bailey CJ
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S227-33. PubMed ID: 19562503
[TBL] [Abstract][Full Text] [Related]
15. Functional analysis of the pyrimidine de novo synthesis pathway in solanaceous species.
Schröder M; Giermann N; Zrenner R
Plant Physiol; 2005 Aug; 138(4):1926-38. PubMed ID: 16024685
[TBL] [Abstract][Full Text] [Related]
16. Fluoroorotic acid-selected Nicotiana plumbaginifolia cell lines with a stable thymine starvation phenotype have lost the thymine-regulated transcriptional program.
Santoso D; Thornburg R
Plant Physiol; 2000 Aug; 123(4):1517-24. PubMed ID: 10938367
[TBL] [Abstract][Full Text] [Related]
17. Extra phenotypic features in a girl with Miller syndrome.
Al Kaissi A; Roetzer KM; Ulz P; Heitzer E; Klaushofer K; Grill F
Clin Dysmorphol; 2011 Apr; 20(2):66-72. PubMed ID: 21346561
[TBL] [Abstract][Full Text] [Related]
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; 34 Suppl 2():32-43. PubMed ID: 19230569
[TBL] [Abstract][Full Text] [Related]
19. Nuclear localization and mitogen-activated protein kinase phosphorylation of the multifunctional protein CAD.
Sigoillot FD; Kotsis DH; Serre V; Sigoillot SM; Evans DR; Guy HI
J Biol Chem; 2005 Jul; 280(27):25611-20. PubMed ID: 15890648
[TBL] [Abstract][Full Text] [Related]
20. Construction of a UMP synthase expression cassette from Dictyostelium discoideum.
Shi NQ; Thornburg R
Gene; 1993 May; 127(2):199-202. PubMed ID: 8500761
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
