Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.
Kader T et al.
The Journal of Pathology, 2026
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Effect of the allelic background on the phenotype of primary hyperoxaluria type I.
Mandrile G et al.
Current Opinion in Nephrology and Hypertension, 2025
A molecular journey on the pathogenesis of primary hyperoxaluria.
Cellini B
Current Opinion in Nephrology and Hypertension, 2024
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G et al.
Pediatric Nephrology (berlin, Germany), 2023
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad H et al.
Bmc Medical Genomics, 2021
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
Bmc Nephrology, 2021
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation.
Singh P et al.
Kidney International Reports, 2020
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.
Dindo M et al.
Biochimie, 2016
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.
Wang C et al.
Scientific Reports, 2016
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
Montioli R et al.
Biochimica Et Biophysica Acta, 2015
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Mandrile G et al.
Kidney International, 2014
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Robbiano A et al.
Journal of Nephrology, 0