Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency

Identification of the First Sodium Binding Site of the Phosphate Cotransporter NaPi-IIa (SLC34A1)

(2015) Cristina Fenollar-Ferrer et al.   BIOPHYSICAL JOURNAL

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

(2015) K. P. Schlingmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Common and rare variants associated with kidney stones and biochemical traits

(2015) Asmundur Oddsson et al.   Nature Communications

Structural Fold and Binding Sites of the Human Na+-Phosphate Cotransporter NaPi-II

(2014) Cristina Fenollar-Ferrer et al.   BIOPHYSICAL JOURNAL

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

(2014) Abbhirami Rajagopal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

(2014) J. Halbritter et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake

(2014) Dganit Dinour et al.   PEDIATRIC NEPHROLOGY

Hereditary causes of kidney stones and chronic kidney disease

(2013) Vidar O. Edvardsson et al.   PEDIATRIC NEPHROLOGY

The SLC34 family of sodium-dependent phosphate transporters

(2013) Carsten A. Wagner et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

(2011) Karl P. Schlingmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome

(2011) Joanna Kenny et al.   PEDIATRIC NEPHROLOGY

Genetic Disorders of Renal Phosphate Transport

(2010)   NEW ENGLAND JOURNAL OF MEDICINE

A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome

(2010) Daniella Magen et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Missense Mutation in the Sodium Phosphate Co-transporter Slc34a1 Impairs Phosphate Homeostasis

(2008) T. Iwaki et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY