Article
The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.
Scientific reports - 12 Apr 2022
Bieri Cornelia, Daryadel Arezoo, Bettoni Carla, Pastor-Arroyo Eva-Maria, Schnitzbauer Udo, Hernando Nati, Wagner Carsten A
Abstract excerpt
Kidneys are key regulators of phosphate homeostasis. Biallelic mutations of the renal Na+/phosphate cotransporter SLC34A1/NaPi-IIa cause idiopathic infantile hypercalcemia, whereas monoallelic mutations were frequently noted in adults with kidney stones. Genome-wide-association studies identified SLC34A1 as a risk locus for chronic kidney disease. Pathogenic mutations in SLC34A1 are present in 4% of the general...
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