|
rs121908525
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Front line genetic testing for PH1 in Morocco should be initiated using an assay for the recurrent p.Ile244Thr mutation.
|
26383609 |
2015 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
|
24934730 |
2014 |
|
rs121908525
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
|
24988064 |
2014 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
BEFREE |
In the present work, we identified the double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with PH1 disease.
|
24012869 |
2013 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
|
24055001 |
2013 |
|
rs121908525
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
In the present work, we identified the double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with PH1 disease.
|
24012869 |
2013 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
|
23229545 |
2013 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria.
|
23944302 |
2013 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
|
22547750 |
2012 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1.
|
21612638 |
2011 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy.
|
17495019 |
2007 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
BEFREE |
We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy.
|
17495019 |
2007 |
|
rs121908525
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
In conclusion, in this PH1 population, all bearing the I244T mutation, the development of end-stage renal disease was distinctive during late adolescence or adulthood.
|
16912707 |
2006 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
|
15963748 |
2006 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
|
16971151 |
2006 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
|
15849466 |
2005 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) and one, c.103delG, in the GRHPR gene in DNA samples from 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis.
|
15327387 |
2004 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
|
15253729 |
2004 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
|
12559847 |
2003 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Most of the PH1 alleles detected in the Canary Islands carry the Ile-244 --> Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozygous for this mutation.
|
12777626 |
2003 |
|
rs121908525
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Most of the PH1 alleles detected in the Canary Islands carry the Ile-244 --> Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozygous for this mutation.
|
12777626 |
2003 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
BEFREE |
In summary, I244T, the second most common mutation responsible for PH1, is a protein conformational disease that may benefit from new therapies with pharmacological chaperones or small molecules to minimize protein aggregation.
|
12777626 |
2003 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Identification of 5 novel mutations in the AGXT gene.
|
10862087 |
2000 |
|
rs121908525
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
|
10960483 |
2000 |
|
rs121908525
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
|
10960483 |
2000 |