These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

252 related articles for article (PubMed ID: 33228018)

  • 1. An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective
    Balestra D; Ferrarese M; Lombardi S; Ziliotto N; Branchini A; Petersen N; Bosma P; Pinotti M; van de Graaf SFJ
    Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33228018
    [No Abstract]   [Full Text] [Related]  

  • 2. Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
    Rivera-Barahona A; Sánchez-Alcudia R; Viecelli HM; Rüfenacht V; Pérez B; Ugarte M; Häberle J; Thöny B; Desviat LR
    PLoS One; 2015; 10(4):e0122966. PubMed ID: 25853564
    [TBL] [Abstract][Full Text] [Related]  

  • 3. OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf
    Sacchetto C; Peretto L; Baralle F; Maestri I; Tassi F; Bernardi F; van de Graaf SFJ; Pagani F; Pinotti M; Balestra D
    Mol Med; 2021 Dec; 27(1):157. PubMed ID: 34906067
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.
    Wang L; Morizono H; Lin J; Bell P; Jones D; McMenamin D; Yu H; Batshaw ML; Wilson JM
    Mol Genet Metab; 2012 Feb; 105(2):203-11. PubMed ID: 22133298
    [TBL] [Abstract][Full Text] [Related]  

  • 5. AAV-encoded OTC activity persisting to adulthood following delivery to newborn spf(ash) mice is insufficient to prevent shRNA-induced hyperammonaemia.
    Cunningham SC; Kok CY; Spinoulas A; Carpenter KH; Alexander IE
    Gene Ther; 2013 Dec; 20(12):1184-7. PubMed ID: 24108150
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene delivery.
    Cunningham SC; Kok CY; Dane AP; Carpenter K; Kizana E; Kuchel PW; Alexander IE
    Mol Ther; 2011 May; 19(5):854-9. PubMed ID: 21386824
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency.
    Wang L; Yang Y; Breton C; Bell P; Li M; Zhang J; Che Y; Saveliev A; He Z; White J; Latshaw C; Xu C; McMenamin D; Yu H; Morizono H; Batshaw ML; Wilson JM
    Sci Adv; 2020 Feb; 6(7):eaax5701. PubMed ID: 32095520
    [TBL] [Abstract][Full Text] [Related]  

  • 8. AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice.
    Cunningham SC; Spinoulas A; Carpenter KH; Wilcken B; Kuchel PW; Alexander IE
    Mol Ther; 2009 Aug; 17(8):1340-6. PubMed ID: 19384294
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors.
    Wang L; Wang H; Morizono H; Bell P; Jones D; Lin J; McMenamin D; Yu H; Batshaw ML; Wilson JM
    Gene Ther; 2012 Apr; 19(4):404-10. PubMed ID: 21850052
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.
    Moscioni D; Morizono H; McCarter RJ; Stern A; Cabrera-Luque J; Hoang A; Sanmiguel J; Wu D; Bell P; Gao GP; Raper SE; Wilson JM; Batshaw ML
    Mol Ther; 2006 Jul; 14(1):25-33. PubMed ID: 16677864
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W; Takeshima Y; Nishiyama A; Okizuka Y; Yagi M; Tsuneishi S; Saiki K; Kugo M; Matsuo M
    Kobe J Med Sci; 2007; 53(5):229-40. PubMed ID: 18204299
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comprehensive characterization of ureagenesis in the spf
    Allegri G; Deplazes S; Rimann N; Causton B; Scherer T; Leff JW; Diez-Fernandez C; Klimovskaia A; Fingerhut R; Krijt J; Kožich V; Nuoffer JM; Grisch-Chan HM; Thöny B; Häberle J
    J Inherit Metab Dis; 2019 Nov; 42(6):1064-1076. PubMed ID: 30714172
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.
    Imoto K; Tanaka M; Goya T; Aoyagi T; Takahashi M; Kurokawa M; Tashiro S; Kato M; Kohjima M; Ogawa Y
    BMC Gastroenterol; 2022 Mar; 22(1):144. PubMed ID: 35346058
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
    Sugahara G; Yamasaki C; Yanagi A; Furukawa S; Ogawa Y; Fukuda A; Enosawa S; Umezawa A; Ishida Y; Tateno C
    J Inherit Metab Dis; 2021 May; 44(3):618-628. PubMed ID: 33336822
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency.
    Prieve MG; Harvie P; Monahan SD; Roy D; Li AG; Blevins TL; Paschal AE; Waldheim M; Bell EC; Galperin A; Ella-Menye JR; Houston ME
    Mol Ther; 2018 Mar; 26(3):801-813. PubMed ID: 29433939
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
    Bisanzi S; Morrone A; Donati MA; Pasquini E; Spada M; Strisciuglio P; Parenti G; Parini R; Papadia F; Zammarchi E
    Mol Genet Metab; 2002 Jun; 76(2):137-44. PubMed ID: 12083811
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
    Carstens RP; Fenton WA; Rosenberg LR
    Am J Hum Genet; 1991 Jun; 48(6):1105-14. PubMed ID: 2035531
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter.
    Kiwaki K; Kanegae Y; Saito I; Komaki S; Nakamura K; Miyazaki JI; Endo F; Matsuda I
    Hum Gene Ther; 1996 May; 7(7):821-30. PubMed ID: 8860834
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.
    Tarasenko TN; Rosas OR; Singh LN; Kristaponis K; Vernon H; McGuire PJ
    PLoS One; 2015; 10(2):e0116594. PubMed ID: 25647322
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.
    Zimmer KP; Bendiks M; Mori M; Kominami E; Robinson MB; Ye X; Wilson JM
    Mol Med; 1999 Apr; 5(4):244-53. PubMed ID: 10448647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.