Condition: Primary hyperoxaluria, type I


rs111996685 in AGXT gene and Primary hyperoxaluria, type I PMID 19479957 2009 Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

PMID 2039493 1991 Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.

PMID 23229545 2013 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.

PMID 24934730 2014 Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

PMID 8101040 1993 Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

PMID 24055001 2013 Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

PMID 22547750 2012 Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

PMID 9604803 1998 Identification of new mutations in primary hyperoxaluria type 1 (PH1).

PMID 9192270 1997 Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

PMID 10862087 2000 Identification of 5 novel mutations in the AGXT gene.

PMID 12777626 2003 Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

PMID 16971151 2006 Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.

PMID 17495019 2007 Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.

PMID 1349575 1992 A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.

PMID 10453743 1999 Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

PMID 1301173 1992 A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

PMID 10394939 1999 Gene symbol: AGXT. Disease: primary hyperoxaluria type I.

PMID 15963748 2006 The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

PMID 12559847 2003 The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.

PMID 15253729 2004 Clinical implications of mutation analysis in primary hyperoxaluria type 1.

PMID 15849466 2005 Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.

PMID 10960483 2000 Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

PMID 1879825 1991 An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.

PMID 24988064 2014 Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

PMID 17696873 2007 Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications.

PMID 18282470 2008 Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

PMID 23944302 2013 Primary hyperoxaluria.

PMID 17460142 2007 Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

PMID 15253729 2004 Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome.

PMID 12777626 2003 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.

PMID 17495019 2007 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.

PMID 16912707 2006 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.

PMID 24012869 2013 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.

PMID 10541294 1999 Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.

PMID 18782763 2008 In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.

PMID 18448374 2008 Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.

PMID 25629080 2015 Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

PMID 25644115 2015 Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

PMID 16208537 2005 An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.

PMID 17495019 2007 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.

PMID 16971151 2006 We have generated a spectrum of 15 missense changes including the most common PH1 mutation, G170R, and expressed them on the appropriate background of the major or minor allele, in an Escherichia coli overexpression system and in a rabbit reticulocyte transcription/translation system.

PMID 27915025 2016 Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.

PMID 20016466 2010 Our results underscore the severe prognosis of primary hyperoxaluria type 1 and the necessity for early diagnosis and treatment, as well as confirm a better prognosis of the p.Gly170Arg mutation.

PMID 1703535 1990 Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

PMID 15253729 2004 Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome.

PMID 15327387 2004 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.

PMID 23810941 2013 Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.

PMID 15365967 2004 Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

PMID 27935012 2017 Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

PMID 27659337 2016 A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.

PMID 21488232 2010 Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

PMID 15961945 2005 Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.

PMID 23551880 2015 Stroke in primary hyperoxaluria type I.

PMID 22923379 2012 Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

PMID 22018727 2012 Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.

PMID 15356974 2004 Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation.

PMID 21705122 2011 Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis.

PMID 11708860 2001 Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

PMID 20133649 2010 Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.

PMID 12899834 2003 Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.

PMID 15802217 2005 Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.

PMID 11562405 2001 AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

PMID 23861508 2013 Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1.

PMID 23439734 2012 Common mutation underlying primary hyperoxaluria type1 in three Indian children.

PMID 18810341 2009 Primary hyperoxaluria type 1 with a novel mutation.

PMID 15464418 2005 Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

PMID 12768081 2003 Primary hyperoxaluria: genotype-phenotype correlation.

PMID 15961946 2005 Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

PMID 24718375 2014 Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

PMID 16850020 2006 Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1.

PMID 15110324 2004 The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

PMID 23430879 2012 Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.

PMID 24385516 2014 Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.

PMID 23589421 2013 Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.

PMID 9002528 1997 A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity.

PMID 20573805 2011 Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration.

PMID 9578076 1998 Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene.

PMID 25363903 2015 Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria.

PMID 20544097 2010 Two-dimensional self-assembly of disulfide functionalized bis-acylurea: a nanosheet template for gold nanoparticle arrays.

PMID 22844106 2012 Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.

PMID 22685354 2012 A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.