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Items: 1 to 20 of 119

1.

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. Epub 2011 Oct 15.

PMID:
22002443
2.

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.

3.

Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah-/- knockout mice model.

Orejuela D, Jorquera R, Bergeron A, Finegold MJ, Tanguay RM.

J Hepatol. 2008 Feb;48(2):308-17. Epub 2007 Dec 3.

PMID:
18093685
5.

Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1.

van Dyk E, Pretorius PJ.

Gene. 2012 Mar 1;495(1):56-61. doi: 10.1016/j.gene.2011.12.021. Epub 2011 Dec 23.

PMID:
22209984
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 4;276(18):15225-31. Epub 2001 Jan 22.

7.

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.

Demers SI, Russo P, Lettre F, Tanguay RM.

Hum Pathol. 2003 Dec;34(12):1313-20.

PMID:
14691918
8.

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.

PMID:
22884142
9.

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. doi: 10.1515/jpem-2015-0289.

PMID:
26565546
10.
11.

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM.

Mol Genet Metab. 1998 Jun;64(2):119-25.

PMID:
9705236
12.

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. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30.

PMID:
21764616
13.

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. Epub 2001 Jun 29.

14.
15.

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.

16.

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.

17.

[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

Vondrácková A, Tesarová M, Magner M, Docekalová D, Chrastina P, Procházkova D, Zeman J, Honzík T.

Cas Lek Cesk. 2010;149(9):411-6. Czech.

PMID:
21117323
18.

Activation of nuclear factor E2-related factor 2 in hereditary tyrosinemia type 1 and its role in survival and tumor development.

Marhenke S, Lamlé J, Buitrago-Molina LE, Cañón JM, Geffers R, Finegold M, Sporn M, Yamamoto M, Manns MP, Grompe M, Vogel A.

Hepatology. 2008 Aug;48(2):487-96. doi: 10.1002/hep.22391.

PMID:
18666252
19.

Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity.

Jacobs SM, van Beurden DH, Klomp LW, Berger R, van den Berg IE.

Pediatr Res. 2006 Mar;59(3):365-70.

PMID:
16492973
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. doi: 10.1515/jpem-2013-0489.

PMID:
24756054

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