Associated Papers
Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).
Lynch L et al.
Bone, 2026
Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.
Urban GM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis.
Paneque T et al.
Urolithiasis, 2025
Updates on renal phosphate transport.
Wagner CA et al.
Current Opinion in Nephrology and Hypertension, 2025
Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria.
Sun Y et al.
Genes & Diseases, 2025
Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.
Brunkhorst M et al.
Kidney International, 2025
Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies.
Zhu Z et al.
Kidney International, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 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
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Zhu Z et al.
Kidney International, 2024
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
Schinke T et al.
Kidney International, 2024
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.
Dodamani MH et al.
Calcified Tissue International, 2024
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
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.
Petzold F et al.
Nutrients, 2023
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M et al.
Nature Communications, 2023
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Brazier F et al.
Scientific Reports, 2023
Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl.
Christensen S et al.
Jcem Case Reports, 2023
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
Stürznickel J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Cohen A et al.
Bone, 2022
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.
Christensen S et al.
Hormone Research in Paediatrics, 2021
Inherited Renal Tubulopathies-Challenges and Controversies.
Iancu D et al.
Genes, 2020
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
Schönauer R et al.
Urolithiasis, 2019
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C et al.
Pflugers Archiv : European Journal of Physiology, 2019
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D et al.
Journal of the American Society of Nephrology : Jasn, 2014
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
Haito-Sugino S et al.
American Journal of Physiology. Cell Physiology, 2012
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
Tencza AL et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.
Page K et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2008
New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.
Miyamoto K et al.
American Journal of Nephrology, 2007
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Bergwitz C et al.
American Journal of Human Genetics, 2006
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B et al.
American Journal of Human Genetics, 2006
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
Bhadada SK et al.
Aace Clinical Case Reports, 0
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0