BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 28755182)

  • 1. Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
    Morrow G; Angileri F; Tanguay RM
    Adv Exp Med Biol; 2017; 959():25-48. PubMed ID: 28755182
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
    Cao YY; Zhang YL; DU J; Qu YJ; Zhong XM; Bai JL; Song F
    Chin Med J (Engl); 2012 Jun; 125(12):2132-6. PubMed ID: 22884142
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.
    Macias I; Laín A; Bernardo-Seisdedos G; Gil D; Gonzalez E; Falcon-Perez JM; Millet O
    J Biol Chem; 2019 Aug; 294(35):13051-13060. PubMed ID: 31300554
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
    Ijaz S; Zahoor MY; Imran M; Afzal S; Bhinder MA; Ullah I; Cheema HA; Ramzan K; Shehzad W
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):327-32. PubMed ID: 26565546
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
    Aponte JL; Sega GA; Hauser LJ; Dhar MS; Withrow CM; Carpenter DA; Rinchik EM; Culiat CT; Johnson DK
    Proc Natl Acad Sci U S A; 2001 Jan; 98(2):641-5. PubMed ID: 11209059
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
    Bergeron A; D'Astous M; Timm DE; Tanguay RM
    J Biol Chem; 2001 May; 276(18):15225-31. PubMed ID: 11278491
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
    Morrow G; Tanguay RM
    Adv Exp Med Biol; 2017; 959():9-21. PubMed ID: 28755181
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
    St-Louis M; Tanguay RM
    Hum Mutat; 1997; 9(4):291-9. PubMed ID: 9101289
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.
    Li L; Zhang Q; Yang H; Zou Q; Lai C; Jiang F; Zhao P; Luo Z; Yang J; Chen Q; Wang Y; Newsome PN; Frampton J; Maxwell PH; Li W; Chen S; Wang D; Siu TS; Tam S; Tse HF; Qin B; Bao X; Esteban MA; Lai L
    J Biol Chem; 2017 Mar; 292(11):4755-4763. PubMed ID: 28053091
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.
    Park HD; Lee DH; Choi TY; Lee YK; Kim JW; Ki CS; Lee YW
    Clin Chem Lab Med; 2009; 47(8):930-3. PubMed ID: 19569981
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
    Imtiaz F; Rashed MS; Al-Mubarak B; Allam R; El-Karaksy H; Al-Hassnan Z; Al-Owain M; Al-Zaidan H; Rahbeeni Z; Qari A; Meyer BF; Al-Sayed M
    Mol Genet Metab; 2011 Dec; 104(4):688-90. PubMed ID: 21764616
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.
    Choi HJ; Bang HI; Ki CS; Lee SY; Kim JW; Song J; Shin MR; Lee YW; Lee DH; Park HD
    Ann Clin Lab Sci; 2014; 44(3):317-23. PubMed ID: 25117105
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
    Morrow G; Dreumont N; Bourrelle-Langlois M; Roy V; Tanguay RM
    Mol Genet Metab; 2019 May; 127(1):58-63. PubMed ID: 30954369
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
    Ibarra-González I; Fernández-Lainez C; Alcántara-Ortigoza MA; González-Del Angel A; Fernández-Henández L; Guillén-López S; Belmont-Martínez L; López-Mejía L; Varela-Fascinetto G; Vela-Amieva M
    Mol Genet Genomic Med; 2019 Dec; 7(12):e937. PubMed ID: 31568711
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
    Luijerink MC; van Beurden EA; Malingré HE; Jacobs SM; Grompe M; Klomp LW; Berger R; van den Berg IE
    Kidney Int; 2004 Sep; 66(3):990-1000. PubMed ID: 15327392
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice.
    Yang S; Siepka SM; Cox KH; Kumar V; de Groot M; Chelliah Y; Chen J; Tu B; Takahashi JS
    Proc Natl Acad Sci U S A; 2019 Oct; 116(44):22229-22236. PubMed ID: 31611405
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
    van Dyk E; Pretorius PJ
    J Inherit Metab Dis; 2012 May; 35(3):407-11. PubMed ID: 22002443
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.
    Colemonts-Vroninks H; Neuckermans J; Marcelis L; Claes P; Branson S; Casimir G; Goyens P; Martens GA; Vanhaecke T; De Kock J
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33375092
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.
    Chen J; Sun J; Li X; Du M
    BMC Med Genomics; 2022 Dec; 15(1):251. PubMed ID: 36463171
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
    Haghighi-Kakhki H; Rezazadeh J; Ahmadi-Shadmehri A
    J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):795-8. PubMed ID: 24756054
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.