|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Paradoxically, an AA homozygous genotype for this polymorphism is expected to abolish the function of the ASS1 enzyme that participates in the urea cycle, leading to citrullinemia, hyperammonemia, coma and death.
|
31729055 |
2020 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations are found in all ASS1 exons and cause the autosomal recessive disorder citrullinemia.
|
29247816 |
2018 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p.Gly390Arg mutation in ASS1 gene.
|
28741715 |
2018 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
|
28111830 |
2017 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction.
|
28587924 |
2017 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Case 1 has a triplication at 9q21.11-q21.33 and segmental paternal isoUPD for 9q21.33-qter, and presented with citrullinemia with a homozygous mutation in the argininosuccinate synthetase gene (ASS1 at 9q34.1).
|
24713661 |
2015 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles.
|
25443352 |
2014 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported.
|
24508627 |
2014 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
CLINGEN |
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
|
23246278 |
2013 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
MGD |
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
|
20724589 |
2010 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
|
19006241 |
2009 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
|
16475226 |
2006 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
The absence of citrin leads to a liver-specific, quantitative decrease of argininosuccinate synthetase (ASS), causing hyperammonemia and citrullinemia.
|
14701727 |
2004 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
|
12542919 |
2003 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
According to the mutations found in this study, mild citrullinemia seems to be primarily related to the human ASS gene, at least in patients of caucasian origin.
|
14680976 |
2003 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
|
12815590 |
2003 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Type II citrullinaemia (CTLN2) is an adult- or late childhood-onset liver disease characterized by a liver-specific defect in argininosuccinate synthetase protein.
|
11999983 |
2002 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Thus, mutations found in the human ASS gene of asymptomatic children with biochemical abnormalities and in some cases enzymatically proven citrullinemia have allowed us to classify these cases as ASS-deficient patients.
|
11941481 |
2002 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Previous studies of RNA of argininosuccinate synthetase of citrullinaemia patients using S1 nuclease analysis have identified a class of so-called RNA-negative alleles in which no stable mRNA can be detected.
|
11571557 |
2001 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.
|
11083500 |
2000 |
|
Citrullinemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene.
|
10987146 |
2000 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.
|
11083500 |
2000 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.
|
10097149 |
1999 |
|
Citrullinemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
CTLN2 differs from classical citrullinaemia (CTLN1, OMIM 215700) in that CTLN1 is neonatal or infantile in onset, with ASS enzyme defects (in all tissues) arising due to mutations in ASS on chromosome 9q34 (refs 18-21).
|
10369257 |
1999 |