Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant.
Abouzeina M et al.
Journal of Rare Diseases (berlin, Germany), 2025
Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1.
Jones G et al.
Journal of Endocrinological Investigation, 2024
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.
Leszczyńska D et al.
Frontiers in Endocrinology, 2024
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
Rare cause of life-threatening hypercalcemia in an infant: a case report.
Lefèvre CR et al.
Annales De Biologie Clinique, 2022
Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.
Pilz S et al.
Nutrients, 2022
Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.
Granhøj J et al.
Nephron, 2022
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
Vitamin D-dependent Hypercalcemia.
Schlingmann KP
Endocrinology and Metabolism Clinics of North America, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D-mediated Hypercalcemia Disorders.
Azer SM et al.
Journal of the Endocrine Society, 2021
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Janiec A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.
Hanna C et al.
Kidney International Reports, 2021
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
Hureaux M et al.
Molecular Cytogenetics, 2021
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin A et al.
Frontiers in Endocrinology, 2021
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Griffin TP et al.
Endocrine Connections, 2020
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.
Sun Y et al.
Fetal and Pediatric Pathology, 2019
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Pronicka E et al.
Journal of Applied Genetics, 2017
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.
Kaufmann M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
[Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review].
Seidowsky A et al.
Nephrologie & Therapeutique, 2017
Hyperparathyroidism complicating CYP 24A1 mutations.
Loyer C et al.
Annales D'endocrinologie, 2016
Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.
Nagamani S et al.
Meta Gene, 2016
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl WA et al.
Molecular Genetics and Metabolism, 2016
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Gigante M et al.
Nephron, 2016
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
Molin A et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.
Shah AD et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system.
Mugg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
Figueres ML et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Jobst-Schwan T et al.
Kidney & Blood Pressure Research, 2015
Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.
Dinour D et al.
The Journal of Urology, 2013
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells.
Jacobs ET et al.
Cancer Research, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
CYP24A1 mutations in idiopathic infantile hypercalcemia.
Ji HF et al.
The New England Journal of Medicine, 2011
CYP24A1 mutations in idiopathic infantile hypercalcemia.
Streeten EA et al.
The New England Journal of Medicine, 2011