Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

(2018) Ankana Daga et al.   KIDNEY INTERNATIONAL

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

(2018) Sezer Acar et al.   PLoS One

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

(2017) Ewa Pronicka et al.   JOURNAL OF APPLIED GENETICS

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update

(2017) Carsten A. Wagner et al.   PEDIATRIC NEPHROLOGY

Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice

(2017) Daniel Caballero et al.   PLoS One

Response of Npt2a knockout mice to dietary calcium and phosphorus

(2017) Yuwen Li et al.   PLoS One

Idiopathic Calcium Nephrolithiasis: A Review of Pathogenic Mechanisms in the Light of Genetic Studies

(2017) Teresa Arcidiacono et al.   AMERICAN JOURNAL OF NEPHROLOGY

Hypophosphatemia promotes lower rates of muscle ATP synthesis

(2016) Dominik H. Pesta et al.   FASEB JOURNAL

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

(2016) Cristian Pattaro et al.   Nature Communications

Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications

(2015) Silje Rafaelsen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

(2014) D. Dasgupta et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Phosphate Transporters and Their Function

(2013) Jürg Biber et al.   Annual Review of Physiology

Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

(2013) Shoji Ichikawa et al.   BONE

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient

(2013) Yue Chi et al.   BONE

A Patient with Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation inSLC34A3

(2013) Kathleen Page et al.   Endocrine Practice

Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets

(2013) Moira Cheung et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Improving the Vitamin D Status of Vitamin D Deficient Adults Is Associated With Improved Mitochondrial Oxidative Function in Skeletal Muscle

(2013) Akash Sinha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

FGF23 acts directly on renal proximal tubules to induce phosphaturia through activation of the ERK1/2–SGK1 signaling pathway

(2012) Olena Andrukhova et al.   BONE

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred

(2012) Y. Yu et al.   BONE

Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations

(2012) Michael Mannstadt et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Association of Randall Plaque With Collagen Fibers and Membrane Vesicles

(2012) Saeed R. Khan et al.   JOURNAL OF UROLOGY

Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-Identification of a novel SLC34A3/NaPi-IIc mutation

(2011) Priya Phulwani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria

(2011) Sakiko Haito-Sugino et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Noninvasive imaging of bone microarchitecture

(2011) Janina M. Patsch et al.   Annals of the New York Academy of Sciences

Characterization of sarcoplasmic calcium binding protein (SCP) variants from freshwater crayfish Procambarus clarkii

(2011) Alexandra J. White et al.   COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY B-BIOCHEMISTRY & MOLECULAR BIOLOGY

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

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

Renal Stones

(2011) Beth L. Schissel et al.   PEDIATRIC EMERGENCY CARE

Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis

(2011) Silvia Tore et al.   PLoS Genetics

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD

(2011) Carsten A. Böger et al.   PLoS Genetics

Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule

(2010) Ming Chang Hu et al.   FASEB JOURNAL

Anti-FGF-23 neutralizing antibodies ameliorate muscle weakness and decreased spontaneous movement of Hyp mice

(2010) Yukiko Aono et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Common Genetic Variants Associate with Serum Phosphorus Concentration

(2010) B. Kestenbaum et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

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

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

(2010) Natalia Mejia-Gaviria et al.   Orphanet Journal of Rare Diseases

Acute parathyroid hormone differentially regulates renal brush border membrane phosphate cotransporters

(2010) Nicolas Picard et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

(2010) Daniel F. Gudbjartsson et al.   PLoS Genetics

PHEX, FGF23, DMP1 and beyond

(2009) Tim M Strom et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be masked by Vitamin D Deficiency and can be Associated with Renal Calcifications

(2009) B. Kremke et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Hypophosphatemic Rickets with Hypercalciuria due to Mutation inSLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis

(2009) Amanda L. Tencza et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients

(2008) Itsuro Endo et al.   BONE

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

(2008) Emily G. Farrow et al.   BONE

The Klotho gene family and the endocrine fibroblast growth factors

(2008) Hiroshi Kurosu et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Tissue-specific mRNA Expression Profiles of Human Solute Carrier Transporter Superfamilies

(2008) Masuhiro Nishimura et al.   Drug Metabolism and Pharmacokinetics

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

NHERF1Mutations and Responsiveness of Renal Parathyroid Hormone

(2008) Zoubida Karim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic causes of hypercalciuric nephrolithiasis

(2008) Michael J. Stechman et al.   PEDIATRIC NEPHROLOGY

Regulation of phosphate homeostasis by the phosphatonins and other novel mediators

(2008) Aisha Shaikh et al.   PEDIATRIC NEPHROLOGY

Nephrolithiasis

(2008) Elaine M. Worcester et al.   PRIMARY CARE