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Items: 1 to 20 of 252

1.

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 16;98(2):641-5.

2.

Animal models of tyrosinemia.

Nakamura K, Tanaka Y, Mitsubuchi H, Endo F.

J Nutr. 2007 Jun;137(6 Suppl 1):1556S-1560S; discussion 1573S-1575S. Review.

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Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Ploos van Amstel JK, Bergman AJ, van Beurden EA, Roijers JF, Peelen T, van den Berg IE, Poll-The BT, Kvittingen EA, Berger R.

Hum Genet. 1996 Jan;97(1):51-9.

PMID:
8557261
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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.

11.

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.

12.

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 26;272(39):24426-32.

13.

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. doi: 10.1515/jpem-2013-0489.

PMID:
24756054
14.

High volume naked DNA tail-vein injection restores liver function in Fah-knock out mice.

Eggenhofer E, Doenecke A, Renner P, Slowik P, Piso P, Geissler EK, Schlitt HJ, Dahlke MH, Popp FC.

J Gastroenterol Hepatol. 2010 May;25(5):1002-8. doi: 10.1111/j.1440-1746.2009.06156.x.

PMID:
20546455
15.

Animal models reveal pathophysiologies of tyrosinemias.

Endo F, Tanaka Y, Tomoeda K, Tanoue A, Tsujimoto G, Nakamura K.

J Nutr. 2003 Jun;133(6 Suppl 1):2063S-2067S. Review.

16.

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 Summer;44(3):317-23.

PMID:
25117105
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. doi: 10.1007/s10545-011-9401-x.

PMID:
22002443
18.

[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. Chinese.

PMID:
23927806
19.

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.

20.

Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.

Ruppert S, Kelsey G, Schedl A, Schmid E, Thies E, Schütz G.

Genes Dev. 1992 Aug;6(8):1430-43.

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