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 *

144 related articles for article (PubMed ID: 37365635)

  • 21. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
    Kurokawa K; Yorifuji T; Kawai M; Momoi T; Nagasaka H; Takayanagi M; Kobayashi K; Yoshino M; Kosho T; Adachi M; Otsuka H; Yamamoto S; Murata T; Suenaga A; Ishii T; Terada K; Shimura N; Kiwaki K; Shintaku H; Yamakawa M; Nakabayashi H; Wakutani Y; Nakahata T
    J Hum Genet; 2007; 52(4):349-354. PubMed ID: 17310273
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.
    Ono H; Suto T; Kinoshita Y; Sakano T; Furue T; Ohta T
    Brain Dev; 2009 Nov; 31(10):779-81. PubMed ID: 19167850
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
    Ishikawa R; Sugimoto T; Abe T; Ohno N; Tazuma T; Giga M; Naito H; Kono T; Nomura E; Hara K; Yorifuji T; Yamawaki T
    Intern Med; 2022 May; 61(9):1387-1392. PubMed ID: 34670888
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
    de Cima S; Polo LM; Díez-Fernández C; Martínez AI; Cervera J; Fita I; Rubio V
    Sci Rep; 2015 Nov; 5():16950. PubMed ID: 26592762
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
    Laemmle A; Hahn D; Hu L; Rüfenacht V; Gautschi M; Leibundgut K; Nuoffer JM; Häberle J
    Mol Genet Metab; 2015 Mar; 114(3):438-44. PubMed ID: 25639153
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
    Zhang S; Hu Y; Wu Z; Zhou X; Wu T; Li P; Lian Q; Xu S; Gu J; Chen L; Wu G; Zhang T; Tang J; Xue J
    Int J Radiat Oncol Biol Phys; 2023 Apr; 115(5):1244-1256. PubMed ID: 36423742
    [TBL] [Abstract][Full Text] [Related]  

  • 29. CPS1: Looking at an ancient enzyme in a modern light.
    Nitzahn M; Lipshutz GS
    Mol Genet Metab; 2020 Nov; 131(3):289-298. PubMed ID: 33317798
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
    Imataka G; Ishii J; Ando Y; Yoshihara S; Takagi Y; Nitta A; Arisaka O; Yoshihara S
    Eur Rev Med Pharmacol Sci; 2020 Oct; 24(19):10051-10053. PubMed ID: 33090410
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
    Srinivasan RC; Zabulica M; Hammarstedt C; Wu T; Gramignoli R; Kannisto K; Ellis E; Karadagi A; Fingerhut R; Allegri G; Rüfenacht V; Thöny B; Häberle J; Nuoffer JM; Strom SC
    J Inherit Metab Dis; 2019 Nov; 42(6):1054-1063. PubMed ID: 30843237
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
    Talebi M; Yahya Vahidi Mehrjardi M; Kalhor K; Dehghani M
    Int J Reprod Biomed; 2019 May; 17(5):371-4. PubMed ID: 31435610
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.
    Yan B; Wang C; Zhang K; Zhang H; Gao M; Lv Y; Li X; Liu Y; Gai Z
    Front Genet; 2019; 10():718. PubMed ID: 31507628
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
    Funghini S; Donati MA; Pasquini E; Zammarchi E; Morrone A
    Hum Mutat; 2003 Oct; 22(4):340-1. PubMed ID: 12955727
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
    Aldrian D; Waldner B; Vogel GF; El-Gharbawy AH; McKiernan P; Vockley J; Landau YE; Al Mutairi F; Stepien KM; Kwok AM; Yıldız Y; Honzik T; Kelifova S; Ellaway C; Lund AM; Mori M; Grünert SC; Scholl-Bürgi S; Zöggeler T; Oberhuber R; Schneeberger S; Müller T; Karall D
    J Inherit Metab Dis; 2024 Mar; 47(2):220-229. PubMed ID: 38375550
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
    Zhou Q; Huang H; Ma L; Zhu T
    Biomed Res Int; 2020; 2020():5690915. PubMed ID: 32934962
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency.
    Khayat M
    Hum Genet; 2009 Apr; 125(3):336. PubMed ID: 19309799
    [No Abstract]   [Full Text] [Related]  

  • 40. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
    Aoshima T; Kajita M; Sekido Y; Kikuchi S; Yasuda I; Saheki T; Watanabe K; Shimokata K; Niwa T
    Hum Hered; 2001; 52(2):99-101. PubMed ID: 11474210
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.