308 related articles for article (PubMed ID: 27510266)
61. A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
Maksimova NR; Gurinova EE; Sukhomyasova AL; Danilova AL; Kaimonov VS; Savvina MT; Yakovleva AE; Alekseeva EI
Wiad Lek; 2016; 69(2 Pt 2):295-8. PubMed ID: 27487552
[TBL] [Abstract][Full Text] [Related]
62. In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice.
Paulk NK; Wursthorn K; Haft A; Pelz C; Clarke G; Newell AH; Olson SB; Harding CO; Finegold MJ; Bateman RL; Witte JF; McClard R; Grompe M
Mol Ther; 2012 Oct; 20(10):1981-7. PubMed ID: 22871666
[TBL] [Abstract][Full Text] [Related]
63. 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]
64. Dendrimer-Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I.
Cheng Q; Wei T; Jia Y; Farbiak L; Zhou K; Zhang S; Wei Y; Zhu H; Siegwart DJ
Adv Mater; 2018 Dec; 30(52):e1805308. PubMed ID: 30368954
[TBL] [Abstract][Full Text] [Related]
65. The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Chi H; Gan C; Jiang Y; Chen D; Qiu J; Yang Q; Chen Y; Wang M; Yang H; Jiang W; Li Q
Mol Genet Genomic Med; 2023 Jan; 11(1):e2090. PubMed ID: 36369907
[TBL] [Abstract][Full Text] [Related]
66. Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.
Neuckermans J; Lequeue S; Claes P; Heymans A; Hughes JH; Colemonts-Vroninks H; Marcélis L; Casimir G; Goyens P; Martens GA; Gallagher JA; Vanhaecke T; Bou-Gharios G; De Kock J
Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36980965
[TBL] [Abstract][Full Text] [Related]
67. Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1.
Kelsey G; Ruppert S; Beermann F; Grund C; Tanguay RM; Schütz G
Genes Dev; 1993 Dec; 7(12A):2285-97. PubMed ID: 8253377
[TBL] [Abstract][Full Text] [Related]
68. Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.
Awata H; Endo F; Tanoue A; Kitano A; Nakano Y; Matsuda I
Biochim Biophys Acta; 1994 May; 1226(2):168-72. PubMed ID: 8204664
[TBL] [Abstract][Full Text] [Related]
69. Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah
Zhang L; Ge JY; Zheng YW; Sun Z; Wang C; Peng Z; Wu B; Fang M; Furuya K; Ma X; Shao Y; Ohkohchi N; Oda T; Fan J; Pan G; Li D; Hui L
Adv Sci (Weinh); 2021 Oct; 8(19):e2101188. PubMed ID: 34382351
[TBL] [Abstract][Full Text] [Related]
70. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
Dreumont N; Poudrier JA; Bergeron A; Levy HL; Baklouti F; Tanguay RM
BMC Genet; 2001; 2():9. PubMed ID: 11476670
[TBL] [Abstract][Full Text] [Related]
71. Allogeneic bone marrow transplantation restores liver function in Fah-knockout mice.
Eggenhofer E; Popp FC; Renner P; Slowik P; Neuwinger A; Piso P; Geissler EK; Schlitt HJ; Dahlke MH
Exp Hematol; 2008 Nov; 36(11):1507-13. PubMed ID: 18715687
[TBL] [Abstract][Full Text] [Related]
72. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
Arranz JA; Piñol F; Kozak L; Pérez-Cerdá C; Cormand B; Ugarte M; Riudor E
Hum Mutat; 2002 Sep; 20(3):180-8. PubMed ID: 12203990
[TBL] [Abstract][Full Text] [Related]
73. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
Endo F; Kubo S; Awata H; Kiwaki K; Katoh H; Kanegae Y; Saito I; Miyazaki J; Yamamoto T; Jakobs C; Hattori S; Matsuda I
J Biol Chem; 1997 Sep; 272(39):24426-32. PubMed ID: 9305902
[TBL] [Abstract][Full Text] [Related]
74. Hepatocyte spheroids as an alternative to single cells for transplantation after ex vivo gene therapy in mice and pig models.
Nicolas CT; Hickey RD; Allen KL; Du Z; Guthman RM; Kaiser RA; Amiot B; Bansal A; Pandey MK; Suksanpaisan L; DeGrado TR; Nyberg SL; Lillegard JB
Surgery; 2018 Sep; 164(3):473-481. PubMed ID: 29884476
[TBL] [Abstract][Full Text] [Related]
75. In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.
Manning K; Al-Dhalimy M; Finegold M; Grompe M
Proc Natl Acad Sci U S A; 1999 Oct; 96(21):11928-33. PubMed ID: 10518553
[TBL] [Abstract][Full Text] [Related]
76. [Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Dou LM; Fang LJ; Wang XH; Lu W; Chen R; Li LT; Zhao J; Wang JS
Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):302-7. PubMed ID: 23927806
[TBL] [Abstract][Full Text] [Related]
77. Studying HBV Infection and Therapy in Immune-Deficient NOD-Rag1-/-IL2RgammaC-null (NRG) Fumarylacetoacetate Hydrolase (Fah) Knockout Mice Transplanted with Human Hepatocytes.
Li F; Nio K; Yasui F; Murphy CM; Su L
Methods Mol Biol; 2017; 1540():267-276. PubMed ID: 27975325
[TBL] [Abstract][Full Text] [Related]
78. Genetically blocking
Gu P; Yang Q; Chen B; Bie YN; Liu W; Tian Y; Luo H; Xu T; Liang C; Ye X; Liu Y; Tang X; Gu W
Mol Ther Methods Clin Dev; 2021 Jun; 21():530-547. PubMed ID: 33997102
[TBL] [Abstract][Full Text] [Related]
79. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
Phaneuf D; Lambert M; Laframboise R; Mitchell G; Lettre F; Tanguay RM
J Clin Invest; 1992 Oct; 90(4):1185-92. PubMed ID: 1401056
[TBL] [Abstract][Full Text] [Related]
80. 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]
[Previous] [Next] [New Search]
