Associated Papers
Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.
Urban GM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.
Naciri Bennani H et al.
Pediatric Nephrology (berlin, Germany), 2025
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
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Giovanni Raimondo P et al.
Pediatric Blood & Cancer, 2022
How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?
Tostivint IN et al.
Urolithiasis, 2022
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
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
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH
Tang AR et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2019
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C et al.
Pflugers Archiv : European Journal of Physiology, 2019
Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells.
Shiozaki Y et al.
The Journal of Medical Investigation : Jmi, 2015
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
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
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.
Ayoub EAM et al.
Jornal Brasileiro De Nefrologia, 0