178 related articles for article (PubMed ID: 22967083)
21. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
Green B; Nikkhah D; Cobb AR; Dunaway DJ
J Plast Reconstr Aesthet Surg; 2013 Aug; 66(8):e234-5. PubMed ID: 23664577
[No Abstract] [Full Text] [Related]
22. Requirements for the mitochondrial import and localization of dihydroorotate dehydrogenase.
Rawls J; Knecht W; Diekert K; Lill R; Löffler M
Eur J Biochem; 2000 Apr; 267(7):2079-87. PubMed ID: 10727948
[TBL] [Abstract][Full Text] [Related]
23. Pyrimidine Pathway-Dependent and -Independent Functions of the Toxoplasma gondii Mitochondrial Dihydroorotate Dehydrogenase.
Hortua Triana MA; Cajiao Herrera D; Zimmermann BH; Fox BA; Bzik DJ
Infect Immun; 2016 Oct; 84(10):2974-81. PubMed ID: 27481247
[TBL] [Abstract][Full Text] [Related]
24. Exome sequencing makes medical genomics a reality.
Biesecker LG
Nat Genet; 2010 Jan; 42(1):13-4. PubMed ID: 20037612
[TBL] [Abstract][Full Text] [Related]
25. Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.
Preis S; Raymaekers-Buntinx I; Majewski F
Am J Med Genet; 1995 Mar; 56(2):155-60. PubMed ID: 7625437
[TBL] [Abstract][Full Text] [Related]
26. Functional expression of human dihydroorotate dehydrogenase (DHODH) in pyr4 mutants of ustilago maydis allows target validation of DHODH inhibitors in vivo.
Zameitat E; Freymark G; Dietz CD; Löffler M; Bölker M
Appl Environ Microbiol; 2007 May; 73(10):3371-9. PubMed ID: 17369345
[TBL] [Abstract][Full Text] [Related]
27. Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC; Glusman G; Smit AF; Huff CD; Hubley R; Shannon PT; Rowen L; Pant KP; Goodman N; Bamshad M; Shendure J; Drmanac R; Jorde LB; Hood L; Galas DJ
Science; 2010 Apr; 328(5978):636-9. PubMed ID: 20220176
[TBL] [Abstract][Full Text] [Related]
28. New acrofacial dysostosis syndrome in 3 sibs.
Rodríguez JI; Palacios J; Urioste M
Am J Med Genet; 1990 Apr; 35(4):484-9. PubMed ID: 2333875
[TBL] [Abstract][Full Text] [Related]
29. Teriflunomide treatment for multiple sclerosis modulates T cell mitochondrial respiration with affinity-dependent effects.
Klotz L; Eschborn M; Lindner M; Liebmann M; Herold M; Janoschka C; Torres Garrido B; Schulte-Mecklenbeck A; Gross CC; Breuer J; Hundehege P; Posevitz V; Pignolet B; Nebel G; Glander S; Freise N; Austermann J; Wirth T; Campbell GR; Schneider-Hohendorf T; Eveslage M; Brassat D; Schwab N; Loser K; Roth J; Busch KB; Stoll M; Mahad DJ; Meuth SG; Turner T; Bar-Or A; Wiendl H
Sci Transl Med; 2019 May; 11(490):. PubMed ID: 31043571
[TBL] [Abstract][Full Text] [Related]
30. The pathway to pyrimidines: The essential focus on dihydroorotate dehydrogenase, the mitochondrial enzyme coupled to the respiratory chain.
Löffler M; Carrey EA; Knecht W
Nucleosides Nucleotides Nucleic Acids; 2020; 39(10-12):1281-1305. PubMed ID: 32043431
[TBL] [Abstract][Full Text] [Related]
31. The structures of human dihydroorotate dehydrogenase with and without inhibitor reveal conformational flexibility in the inhibitor and substrate binding sites.
Walse B; Dufe VT; Svensson B; Fritzson I; Dahlberg L; Khairoullina A; Wellmar U; Al-Karadaghi S
Biochemistry; 2008 Aug; 47(34):8929-36. PubMed ID: 18672895
[TBL] [Abstract][Full Text] [Related]
32. Reactivation of Dihydroorotate Dehydrogenase-Driven Pyrimidine Biosynthesis Restores Tumor Growth of Respiration-Deficient Cancer Cells.
Bajzikova M; Kovarova J; Coelho AR; Boukalova S; Oh S; Rohlenova K; Svec D; Hubackova S; Endaya B; Judasova K; Bezawork-Geleta A; Kluckova K; Chatre L; Zobalova R; Novakova A; Vanova K; Ezrova Z; Maghzal GJ; Magalhaes Novais S; Olsinova M; Krobova L; An YJ; Davidova E; Nahacka Z; Sobol M; Cunha-Oliveira T; Sandoval-Acuña C; Strnad H; Zhang T; Huynh T; Serafim TL; Hozak P; Sardao VA; Koopman WJH; Ricchetti M; Oliveira PJ; Kolar F; Kubista M; Truksa J; Dvorakova-Hortova K; Pacak K; Gurlich R; Stocker R; Zhou Y; Berridge MV; Park S; Dong L; Rohlena J; Neuzil J
Cell Metab; 2019 Feb; 29(2):399-416.e10. PubMed ID: 30449682
[TBL] [Abstract][Full Text] [Related]
33. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Weaver KN; Watt KE; Hufnagel RB; Navajas Acedo J; Linscott LL; Sund KL; Bender PL; König R; Lourenco CM; Hehr U; Hopkin RJ; Lohmann DR; Trainor PA; Wieczorek D; Saal HM
Am J Hum Genet; 2015 May; 96(5):765-74. PubMed ID: 25913037
[TBL] [Abstract][Full Text] [Related]
34. Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.
Ogilvy-Stuart AL; Parsons AC
J Med Genet; 1991 Oct; 28(10):695-700. PubMed ID: 1941965
[TBL] [Abstract][Full Text] [Related]
35. Dihydroorotat-ubiquinone oxidoreductase links mitochondria in the biosynthesis of pyrimidine nucleotides.
Löffler M; Jöckel J; Schuster G; Becker C
Mol Cell Biochem; 1997 Sep; 174(1-2):125-9. PubMed ID: 9309676
[TBL] [Abstract][Full Text] [Related]
36. Malarial dihydroorotate dehydrogenase. Substrate and inhibitor specificity.
Baldwin J; Farajallah AM; Malmquist NA; Rathod PK; Phillips MA
J Biol Chem; 2002 Nov; 277(44):41827-34. PubMed ID: 12189151
[TBL] [Abstract][Full Text] [Related]
37. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
Irving MD; Dimitrov BI; Wessels M; Holder-Espinasse M; Chitayat D; Simpson MA
Am J Med Genet A; 2016 Dec; 170(12):3133-3137. PubMed ID: 27642715
[TBL] [Abstract][Full Text] [Related]
38. Recent developments in the medicinal chemistry and therapeutic potential of dihydroorotate dehydrogenase (DHODH) inhibitors.
Vyas VK; Ghate M
Mini Rev Med Chem; 2011 Oct; 11(12):1039-55. PubMed ID: 21861807
[TBL] [Abstract][Full Text] [Related]
39. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
Twigg SR; Ousager LB; Miller KA; Zhou Y; Elalaoui SC; Sefiani A; Bak GS; Hove H; Hansen LK; Fagerberg CR; Tajir M; Wilkie AO
Clin Genet; 2016 Sep; 90(3):270-5. PubMed ID: 26706854
[TBL] [Abstract][Full Text] [Related]
40. Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
Vigneron J; Stricker M; Vert P; Rousselot JM; Levy M
J Med Genet; 1991 Sep; 28(9):636-8. PubMed ID: 1683410
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
