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 *

356 related articles for article (PubMed ID: 28281899)

  • 1. Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
    Diez-Fernandez C; Häberle J
    Expert Opin Ther Targets; 2017 Apr; 21(4):391-399. PubMed ID: 28281899
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.
    Díez-Fernández C; Hu L; Cervera J; Häberle J; Rubio V
    Mol Genet Metab; 2014 Jun; 112(2):123-32. PubMed ID: 24813853
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
    Díez-Fernández C; Gallego J; Häberle J; Cervera J; Rubio V
    J Genet Genomics; 2015 May; 42(5):249-60. PubMed ID: 26059772
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
    Choi R; Park HD; Yang M; Ki CS; Lee SY; Kim JW; Song J; Chang YS; Park WS
    Ann Lab Med; 2017 Jan; 37(1):58-62. PubMed ID: 27834067
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
    Khoja S; Nitzahn M; Hermann K; Truong B; Borzone R; Willis B; Rudd M; Palmer DJ; Ng P; Brunetti-Pierri N; Lipshutz GS
    Mol Genet Metab; 2018 Aug; 124(4):243-253. PubMed ID: 29801986
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
    Diez-Fernandez C; Martínez AI; Pekkala S; Barcelona B; Pérez-Arellano I; Guadalajara AM; Summar M; Cervera J; Rubio V
    Hum Mutat; 2013 Aug; 34(8):1149-59. PubMed ID: 23649895
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
    Gragnaniello V; Gueraldi D; Puma A; Commone A; Loro C; Cazzorla C; Häberle J; Burlina AB
    J Pediatr Endocrinol Metab; 2023 Sep; 36(9):873-878. PubMed ID: 37427576
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.
    Chen X; Yuan L; Sun M; Liu Q; Wu Y
    J Clin Lab Anal; 2018 Jun; 32(5):e22375. PubMed ID: 29314318
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
    Martínez AI; Pérez-Arellano I; Pekkala S; Barcelona B; Cervera J
    Mol Genet Metab; 2010 Dec; 101(4):311-23. PubMed ID: 20800523
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.
    Fan L; Zhao J; Jiang L; Xie L; Ma J; Li X; Cheng M
    J Clin Lab Anal; 2020 Apr; 34(4):e23124. PubMed ID: 31749211
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
    Pekkala S; Martínez AI; Barcelona B; Yefimenko I; Finckh U; Rubio V; Cervera J
    Hum Mutat; 2010 Jul; 31(7):801-8. PubMed ID: 20578160
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.
    Zhang G; Chen Y; Ju H; Bei F; Li J; Wang J; Sun J; Bu J
    J Clin Lab Anal; 2018 Feb; 32(2):. PubMed ID: 28444906
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.
    Choi Y; Oh A; Lee Y; Kim GH; Choi JH; Yoo HW; Lee BH
    Clin Chim Acta; 2022 Feb; 526():55-61. PubMed ID: 34973183
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
    Hu L; Diez-Fernandez C; Rüfenacht V; Hismi BÖ; Ünal Ö; Soyucen E; Çoker M; Bayraktar BT; Gunduz M; Kiykim E; Olgac A; Pérez-Tur J; Rubio V; Häberle J
    Mol Genet Metab; 2014 Dec; 113(4):267-73. PubMed ID: 25410056
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
    Nitzahn M; Allegri G; Khoja S; Truong B; Makris G; Häberle J; Lipshutz GS
    Mol Ther; 2020 Jul; 28(7):1717-1730. PubMed ID: 32359471
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.
    Wang S; Chen J; Zhu X; Huang T; Xu H; Ying G; Qian H; Lin W; Tung Y; Khan KU; Guo H; Zheng G; Lu H; Zhang G
    BMC Med Genomics; 2023 Jun; 16(1):145. PubMed ID: 37365635
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.
    Khoja S; Nitzahn M; Truong B; Lambert J; Willis B; Allegri G; Rüfenacht V; Häberle J; Lipshutz GS
    J Inherit Metab Dis; 2019 Nov; 42(6):1044-1053. PubMed ID: 30835861
    [TBL] [Abstract][Full Text] [Related]  

  • 18.
    Yap S; Gougeard N; Hart AR; Barcelona B; Rubio V
    JIMD Rep; 2019 Jul; 48(1):36-44. PubMed ID: 31392111
    [No Abstract]   [Full Text] [Related]  

  • 19. Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.
    Zhang L; Zou Y; Lu Y; Li Z; Gao F
    Bioorg Chem; 2023 Jan; 130():106253. PubMed ID: 36356370
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
    Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A
    Gene; 2012 Feb; 493(2):228-34. PubMed ID: 22173106
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.