Primary hyperoxaluria, type I
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT).
|
30787879 |
2019 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
|
31715429 |
2019 |
Primary hyperoxaluria, type I
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Taken together, our data indicate that AGT mRNA may have the potential to be developed into a therapeutic for PH1.
|
30676254 |
2019 |
Primary hyperoxaluria, type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our study provides the proof of concept that CRISPR/Cas9-mediated integration of an AGXT minigene into the AAVS1 safe harbour locus in patient-specific iPSCs is an efficient strategy to generate functionally corrected hepatocytes, which in the future may serve as a source for an autologous cell-based gene therapy for the treatment of PH1.
|
31402115 |
2019 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we describe one novel mutation, c.1015delG, and a common mutation, c.815_816insGA, of the AGXT gene among four unrelated families with PH1.
|
30541997 |
2018 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1) is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT.
|
30341509 |
2018 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B<sub>6</sub>.
|
29110180 |
2018 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1) is an inherited disease caused by mutations in alanine-glyoxylate aminotransferase (AGXT).
|
30539697 |
2018 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations.
|
29244539 |
2018 |
Primary hyperoxaluria, type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the genetic disease of Primary Hyperoxaluria Type 1 (PH1), an increased endogenous production of oxalate, due to a deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), results in hyperoxaluria and oxalate kidney stones.
|
28217701 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
|
27935012 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT).
|
27935012 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present work, we aimed to analyze AGXT gene and in silico investigations performed in four patients with PH1 among two non consanguineous families.
|
28969594 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1), an inherited rare disease of glyoxylate metabolism, arises from mutations in the enzyme alanine-glyoxylate aminotransferase.
|
27432743 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
|
27935012 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1.
|
28619084 |
2017 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1.
|
27915025 |
2016 |
Primary hyperoxaluria, type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
|
27915025 |
2016 |
Primary hyperoxaluria, type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
|
27659337 |
2016 |
Primary hyperoxaluria, type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1) is caused by deficient alanine-glyoxylate aminotransferase, the human peroxisomal enzyme that detoxifies glyoxylate.
|
26689264 |
2016 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations on the AGXT gene encoding AGT lead to Primary Hyperoxaluria Type I (PH1), a rare disorder characterized by the deposition of calcium oxalate crystals primarily in the urinary tract.
|
25620715 |
2015 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
|
26383609 |
2015 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Stroke in primary hyperoxaluria type I.
|
23551880 |
2015 |
Primary hyperoxaluria, type I
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria.
|
25363903 |
2015 |
Primary hyperoxaluria, type I
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
|
25644115 |
2015 |