Associated Papers
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2026
CYP24A1: the pivotal regulator of vitamin D homeostasis, pathophysiology in metabolic and genetic disease, and emerging target for precision medicine.
Jayathilaka NS et al.
Drug Metabolism Reviews, 2026
Challenges and Pitfalls in Diagnosing and Managing Severe Gestational Hypercalcaemia.
Dewdney C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2026
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
Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.
Kulikova KS et al.
Problemy Endokrinologii, 2025
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Inherited and de novo variants in young females potentially associated with pelvic organ prolapse.
Sadakierska-Chudy A et al.
American Journal of Obstetrics and Gynecology, 2025
Persistent Hypercalcemia Despite Parathyroidectomy for Primary Hyperparathyroidism in an Adult with Nephrocalcinosis and Nephrolithiasis Caused by a Novel Combination of Two Pathogenic CYP24A1 Mutations.
Zhang S et al.
International Journal of Molecular Sciences, 2025
Hypercalcemia due to CYP24A1 variants in five unrelated patients: diagnostic and clinical considerations.
Sarvaideo JL et al.
Jbmr Plus, 2025
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 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
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Lim E et al.
Kidney International Reports, 2024
Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D.
Mohan S et al.
Jcem Case Reports, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 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
Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.
Bizerea-Moga TO et al.
Children (basel, Switzerland), 2023
Hypervitaminosis D Secondary to a CYP24A1 Loss-of-Function Mutation: An Unusual Cause of Hypercalcemia in Two Siblings.
Collins L et al.
Jbmr Plus, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1.
St-Arnaud R et al.
Nutrients, 2022
CYP24A1 gene defect manifesting with gestational hypercalcemia
Györkös A et al.
Orvosi Hetilap, 2022
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.
Brancatella A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.
Granhøj J et al.
Nephron, 2022
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.
Brunerova L et al.
Frontiers in Medicine, 2022
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D et al.
European Journal of Endocrinology, 2021
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Genetic skin disorders: The value of a multidisciplinary clinic.
Parker JC et al.
American Journal of Medical Genetics. Part A, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
Rousseau-Nepton I et al.
Hormone Research in Paediatrics, 2021
Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up.
Gurevich E et al.
Frontiers in Pediatrics, 2021
Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.
Mirea AM et al.
European Journal of Medical Genetics, 2020
Therapy-Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware of Concomitant Hyperparathyroidism.
David K et al.
Calcified Tissue International, 2020
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Griffin TP et al.
Endocrine Connections, 2020
Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.
Arnold N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
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
Outcomes Following Treatment of Maternal Hypercalcemia Due to CYP24A1 Pathogenic Variants.
McBride L et al.
Kidney International Reports, 2019