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Items: 1 to 20 of 53

1.

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

Scalet D, Sacchetto C, Bernardi F, Pinotti M, van de Graaf SFJ, Balestra D.

J Hum Genet. 2018 May;63(5):683-686. doi: 10.1038/s10038-018-0427-x. Epub 2018 Mar 1.

2.

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Morrow G, Angileri F, Tanguay RM.

Adv Exp Med Biol. 2017;959:25-48. doi: 10.1007/978-3-319-55780-9_3. Review.

PMID:
28755182
3.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.

Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8.

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. doi: 10.1515/jpem-2015-0289.

PMID:
26565546
5.

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, Al-Jarallah AS.

BMC Res Notes. 2013 Sep 9;6:362. doi: 10.1186/1756-0500-6-362.

6.

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat LR.

Clin Genet. 2014 Aug;86(2):167-71. doi: 10.1111/cge.12243. Epub 2013 Aug 21.

PMID:
23895425
7.

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
8.

Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H.

Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. doi: 10.3109/00365513.2012.676210. Epub 2012 May 4.

PMID:
22554029
9.

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
10.

Tyrosinemia Type I.

Sniderman King L, Trahms C, Scott CR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jul 24 [updated 2017 May 25].

11.

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA.

J Mol Med (Berl). 2005 May;83(5):406-10. Epub 2005 Mar 10.

PMID:
15759101
12.
13.

Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.

Dreumont N, Maresca A, Khandjian EW, Baklouti F, Tanguay RM.

Biochem Biophys Res Commun. 2004 Nov 5;324(1):186-92.

PMID:
15465000
14.

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.

15.

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.

16.

Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D'Astous M, Lettre F, Hahn SH, Levy HL.

J Inherit Metab Dis. 2000 Dec;23(8):791-804.

PMID:
11196105
17.

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R.

Hum Mutat. 1998;12(1):19-26.

PMID:
9633815
18.

Fumarylacetoacetase mutations in tyrosinaemia type I.

Rootwelt H, Høie K, Berger R, Kvittingen EA.

Hum Mutat. 1996;7(3):239-43.

PMID:
8829657
19.

Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

St-Louis M, Poudrier J, Tanguay RM.

Hum Mutat. 1996;7(4):379-80. No abstract available.

PMID:
8723698
20.

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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