Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.
Martínez-Galindo R et al.
Journal of Clinical Medicine, 2026
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
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
Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.
Yel S et al.
Pediatric Nephrology (berlin, Germany), 2024
Lumasiran treatment in pediatric patients with PH1: real-world data within a compassionate use program in Italy.
Taroni F et al.
Clinical Kidney Journal, 2024
Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
Naguib S et al.
Genetic Testing and Molecular Biomarkers, 2024
Natural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.
Sas DJ et al.
Pediatric Nephrology (berlin, Germany), 2024
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Missense3D-PPI: A Web Resource to Predict the Impact of Missense Variants at Protein Interfaces Using 3D Structural Data.
Pennica C et al.
Journal of Molecular Biology, 2023
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Alfadhel M et al.
Pediatric Nephrology (berlin, Germany), 2023
Lessons for the clinical nephrologist: lumasiran as the future cornerstone treatment for patients with primary hyperoxaluria type 1?
Gillion V et al.
Journal of Nephrology, 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.
Grottelli S et al.
Journal of Medicinal Chemistry, 2022
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Huang L et al.
Molecular Genetics and Genomics : Mgg, 2022
Therapeutic RNA interference: A novel approach to the treatment of primary hyperoxaluria.
Forbes TA et al.
British Journal of Clinical Pharmacology, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Lumasiran for primary hyperoxaluria type 1: What we have learned?
Gang X et al.
Frontiers in Pediatrics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Novel therapeutic approaches for the primary hyperoxalurias.
Belostotsky R et al.
Pediatric Nephrology (berlin, Germany), 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
Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.
Sikora P et al.
Polish Archives of Internal Medicine, 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
Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
Dindo M et al.
The Biochemical Journal, 2019
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
[Genetic and biochemical features of the monogenic hereditary urolithiasis].
Mikhaylenko DS et al.
Biomeditsinskaia Khimiia, 2018
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
M'dimegh S et al.
Annals of Human Genetics, 2017
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
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
Isiyel E et al.
Molecular Genetics and Metabolism, 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
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Fargue S et al.
Biochimica Et Biophysica Acta, 2016
The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.
Oppici E et al.
Acs Chemical Biology, 2015
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K et al.
Journal of the American Society of Nephrology : Jasn, 2015
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
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Williams EL et al.
Molecular Genetics & Genomic Medicine, 2015
Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginine.
Lüneburg N et al.
Circulation. Cardiovascular Genetics, 2014
Protein trafficking defects in inherited kidney diseases.
Schaeffer C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Oppici E et al.
Biochimica Et Biophysica Acta, 2013
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
Fargue S et al.
Biochimica Et Biophysica Acta, 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.
Fargue S et al.
The Journal of Biological Chemistry, 2013