|
Citrullinemia Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Residual enzymatic ASS1 activity reliably predicts the phenotypic severity in CTLN1.
|
31469252 |
2019 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, only nine Chinese patients with CTLN1 have been reported, with a total of 15 ASS1 mutations identified and no high frequency or hot spot mutations found; the mutation spectrum of Chinese patients with CTLN1 was heterogeneous.
|
31208364 |
2019 |
|
Citrullinemia Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage.
|
30848473 |
2019 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme.
|
28132756 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns.
|
28302489 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene.
|
28111830 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The aim of this study was to evaluate whether EVs derived from normal HLSCs restored ASS1 enzymatic activity and urea production in hepatocytes differentiated from HLSCs derived from a patient with type I citrullinemia.
|
28750687 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene.
|
28111830 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We showed that ASS1 mutations linked to type I citrullinemia disrupt the ASS1-PRMT7 interaction, which might explain the molecular pathogenesis of the disease.
|
28587924 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene.
|
28111830 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene.
|
28111830 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene.
|
28111830 |
2017 |
|
Citrullinemia Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations.
|
27287393 |
2016 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations.
|
27287393 |
2016 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations.
|
27287393 |
2016 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
GESPA: classifying nsSNPs to predict disease association.
|
26206375 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of our study was to characterize novel ASS1 gene mutations identified in CTLN1 patients.
|
25179242 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.
|
26117549 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.
|
25047749 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The purpose of our study was to characterize novel ASS1 gene mutations identified in CTLN1 patients.
|
25179242 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition, these data suggest that patients with ASS1 deficiency (citrullinemia type I) may have T cell dysfunction.
|
25492936 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The purpose of our study was to characterize novel ASS1 gene mutations identified in CTLN1 patients.
|
25179242 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
|
24713661 |
2015 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Based upon these new findings, we recommend a combinatorial approach involving ASS1 sequencing and amniotic fluid citrulline/ornithine for the prenatal diagnosis of citrullinemia type I.
|
24889030 |
2014 |
|
Citrullinemia Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene.
|
23611581 |
2014 |