|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetate hydrolase (FAH).
|
29764210 |
2018 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway.
|
28755182 |
2017 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.
|
28053091 |
2017 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
The Fah(-/-) rats faithfully represented major phenotypic and biochemical manifestations of human HT1, including hypertyrosinemia, liver failure, and renal tubular damage.
|
27510266 |
2016 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
We applied our delivery strategy to a mouse model of human hereditary tyrosinemia and show that the treatment generated fumarylacetoacetate hydrolase (Fah)-positive hepatocytes by correcting the causative Fah-splicing mutation.
|
26829318 |
2016 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
CTD_human |
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
|
23895425 |
2014 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder affecting fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine catabolism pathway.
|
22002443 |
2012 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This type of tyrosinemia is caused by a mutation in the gene coding for fumarylacetoacetate hydrolase; several mutations in this gene have been identified.
|
16494511 |
2006 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Both the 8.5-kb Tol2 transposon and 5.8-kb miniTol2 engineered elements readily function to revert the deficiency of fumarylacetoacetate hydrolase in an animal model of hereditary tyrosinemia type 1.
|
17096595 |
2006 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Many patients with tyrosinaemia type 1 have a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue.
|
15759101 |
2005 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.
|
15465000 |
2004 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
CTD_human |
Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress.
|
12899938 |
2003 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
|
11209059 |
2001 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
|
11476670 |
2001 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
|
11278491 |
2001 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Tyrosinaemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma, in childhood or early adolescence.
|
11196105 |
2000 |
|
Tyrosinemias
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of the enzyme fumarylacetoacetase (FAH).
|
9633815 |
1998 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Patients with hereditary tyrosinemia type 1 have a deficiency of fumarylacetoacetate hydrolase (FAH) and develop progressive hepatocellular dysfunction with a high risk of malignant transformation.
|
8707285 |
1996 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The complete fumarylacetoacetate hydrolase (FAH) genotype of probands of thirteen unrelated families with hereditary tyrosinemia type 1 (HT 1) was established.
|
8557261 |
1996 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.
|
8821854 |
1996 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In four patients exhibiting mosaicism of FAH protein, analysis for the tyrosinemia-causing mutations was performed in immunonegative and immunopositive areas of liver tissue by restriction digestion analysis and direct DNA sequencing.
|
7929843 |
1994 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
We investigated the molecular basis of FAH deficiency in a hereditary tyrosinemia type 1 patient whose liver FAH showed a very low enzymatic activity.
|
8364576 |
1993 |
|
Tyrosinemias
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The finding that the Fah gene in wild-type mice is highly expressed only in cell types that develop a phenotype in mutants, and the fact that Fah deficiency determines the human liver disease hereditary tyrosinemia type 1 (HT1), suggested that disruption of the Fah gene was responsible for the lethal albino phenotype.
|
8253377 |
1993 |
|
Tyrosinemias
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These RFLPs were utilised in 3 tyrosinemia families in which one or both parents are carriers of both a tyrosinemia and a pseudodeficiency gene for FAH.
|
1350265 |
1992 |
|
Tyrosinemias
|
0.500 |
Biomarker
|
disease |
BEFREE |
Type 1 hereditary tyrosinemia (HT1) is a metabolic disorder caused by a deficiency of fumarylacetoacetate hydrolase (FAH).
|
1401056 |
1992 |