Similar articles for PMID: 11209059

Year	Number of Results
1986	2
1990	1
1991	2
1992	5
1993	5
1994	4
1995	2
1996	2
1997	3
1998	3
1999	2
2000	2
2001	3
2002	1
2003	4
2004	3
2005	1
2006	5
2007	4
2008	3
2009	2
2010	2
2011	5
2012	4
2013	4
2014	4
2016	7
2017	9
2018	7
2019	6
2020	2
2021	1
2022	2
2023	2
2024	0

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. Aponte JL, et al. Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5. doi: 10.1073/pnas.98.2.641. Proc Natl Acad Sci U S A. 2001. PMID: 11209059 Free PMC article.

2

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. Yang S, et al. Proc Natl Acad Sci U S A. 2019 Oct 29;116(44):22229-22236. doi: 10.1073/pnas.1904485116. Epub 2019 Oct 14. Proc Natl Acad Sci U S A. 2019. PMID: 31611405 Free PMC article.

3

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. Bergeron A, et al. J Biol Chem. 2001 May 4;276(18):15225-31. doi: 10.1074/jbc.M009341200. Epub 2001 Jan 22. J Biol Chem. 2001. PMID: 11278491 Free article.

4

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. Ibarra-González I, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e937. doi: 10.1002/mgg3.937. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568711 Free PMC article.

5

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. Arranz JA, et al. Hum Mutat. 2002 Sep;20(3):180-8. doi: 10.1002/humu.10084. Hum Mutat. 2002. PMID: 12203990

6

A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice.

Sun MS, Hattori S, Kubo S, Awata H, Matsuda I, Endo F. Sun MS, et al. J Am Soc Nephrol. 2000 Feb;11(2):291-300. doi: 10.1681/ASN.V112291. J Am Soc Nephrol. 2000. PMID: 10665936

7

[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. Dou LM, et al. Zhonghua Er Ke Za Zhi. 2013 Apr;51(4):302-7. Zhonghua Er Ke Za Zhi. 2013. PMID: 23927806 Chinese.

8

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. Ploos van Amstel JK, et al. Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833. Hum Genet. 1996. PMID: 8557261

9

Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.

Haghighi-Kakhki H, Rezazadeh J, Ahmadi-Shadmehri A. Haghighi-Kakhki H, et al. J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):795-8. doi: 10.1515/jpem-2013-0489. J Pediatr Endocrinol Metab. 2014. PMID: 24756054

10

Animal models of tyrosinemia.

Nakamura K, Tanaka Y, Mitsubuchi H, Endo F. Nakamura K, et al. J Nutr. 2007 Jun;137(6 Suppl 1):1556S-1560S; discussion 1573S-1575S. doi: 10.1093/jn/137.6.1556S. J Nutr. 2007. PMID: 17513424 Free article. Review.

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