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3. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. McGraw CM; Mahida S; Jayakar P; Koh HY; Taylor A; Resnick T; Rodan L; Schwartz MA; Ejaz A; Sankaran VG; Berry G; Poduri A Ann Clin Transl Neurol; 2021 Mar; 8(3):716-722. PubMed ID: 33497533 [TBL] [Abstract][Full Text] [Related]
4. Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene. Russo R; Marra R; Andolfo I; Manna F; De Rosa G; Rosato BE; Radhakrishnan K; Fahey M; Iolascon A Am J Hematol; 2020 Nov; 95(11):1423-1426. PubMed ID: 32720728 [No Abstract] [Full Text] [Related]
5. CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report. Yarahmadi SG; Morovvati S BMC Pediatr; 2022 Mar; 22(1):125. PubMed ID: 35277149 [TBL] [Abstract][Full Text] [Related]
6. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Ng BG; Wolfe LA; Ichikawa M; Markello T; He M; Tifft CJ; Gahl WA; Freeze HH Hum Mol Genet; 2015 Jun; 24(11):3050-7. PubMed ID: 25678555 [TBL] [Abstract][Full Text] [Related]
7. CAD gene sequence and the domain structure of the mammalian multifunctional protein CAD. Evans DR; Bein K; Guy HI; Liu X; Molina JA; Zimmermann BH Biochem Soc Trans; 1993 Feb; 21(1):186-91. PubMed ID: 8095469 [No Abstract] [Full Text] [Related]
8. Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report. Silva S; Rosas M; Guerra B; Muñoz M; Fujita A; Sakamoto M; Matsumoto N Brain Dev; 2024 Aug; 46(7):250-253. PubMed ID: 38641466 [TBL] [Abstract][Full Text] [Related]
9. Function of the polypeptide chain segment connecting the dihydroorotase and aspartate transcarbamylase domains in the mammalian multifunctional CAD. Guy HI; Evans DR Adv Exp Med Biol; 1994; 370():729-33. PubMed ID: 7661008 [No Abstract] [Full Text] [Related]
10. Heat sensitivity and Sp1 activation of complex formation at the Syrian hamster carbamoyl-phosphate synthase (glutamine-hydrolyzing)/aspartate carbamoyltransferase/dihydroorotase promoter in vitro. Kollmar R; Lindstrom MJ; Farnham PJ J Biol Chem; 1992 Jan; 267(1):385-91. PubMed ID: 1346130 [TBL] [Abstract][Full Text] [Related]
11. CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy. Kamate M; Patil S Pediatr Neurol; 2020 Sep; 110():97-98. PubMed ID: 32654958 [No Abstract] [Full Text] [Related]
13. Identification of an origin of bidirectional DNA replication in the ubiquitously expressed mammalian CAD gene. Kelly RE; DeRose ML; Draper BW; Wahl GM Mol Cell Biol; 1995 Aug; 15(8):4136-48. PubMed ID: 7623808 [TBL] [Abstract][Full Text] [Related]
14. Mammalian dihydroorotase: nucleotide sequence, peptide sequences, and evolution of the dihydroorotase domain of the multifunctional protein CAD. Simmer JP; Kelly RE; Rinker AG; Zimmermann BH; Scully JL; Kim H; Evans DR Proc Natl Acad Sci U S A; 1990 Jan; 87(1):174-8. PubMed ID: 1967494 [TBL] [Abstract][Full Text] [Related]
15. A single base change at a splice acceptor site leads to a truncated CAD protein in Urd-A mutant Chinese hamster ovary cells. Patterson D; Berger R; Bleskan J; Vannais D; Davidson J Somat Cell Mol Genet; 1992 Jan; 18(1):65-75. PubMed ID: 1347664 [TBL] [Abstract][Full Text] [Related]
16. Regulation of carbamoyl phosphate synthetase-aspartate transcarbamoylase-dihydroorotase gene expression in growing and arrested cells. Liao WS; Heller R; Green P; Stark GR J Biol Chem; 1986 Nov; 261(33):15577-81. PubMed ID: 2877980 [TBL] [Abstract][Full Text] [Related]
17. An unusual Alu repeat sequence within the CAD gene. Davidson JN; Khattar NH; Chen KC J Mol Evol; 1991 Feb; 32(2):162-6. PubMed ID: 1672552 [TBL] [Abstract][Full Text] [Related]
18. An E-box-mediated increase in cad transcription at the G1/S-phase boundary is suppressed by inhibitory c-Myc mutants. Miltenberger RJ; Sukow KA; Farnham PJ Mol Cell Biol; 1995 May; 15(5):2527-35. PubMed ID: 7739536 [TBL] [Abstract][Full Text] [Related]
19. Characterisation of the carbamoyl phosphate synthetase gene from Plasmodium falciparum. Flores MV; O'Sullivan WJ; Stewart TS Mol Biochem Parasitol; 1994 Dec; 68(2):315-8. PubMed ID: 7739677 [No Abstract] [Full Text] [Related]
20. Mutagenesis studies of conserved residues in mammalian dihydroorotase. Zimmermann BH; Kemling NM; Evans DR Adv Exp Med Biol; 1994; 370():699-702. PubMed ID: 7661000 [No Abstract] [Full Text] [Related] [Next] [New Search]