Genetic disorders of renal phosphate transport.

No abstract is available for this paper.

• Publication year

  2010

• Venue

  New England Journal of Medicine

• Publication date

  2010-06-24

• Fields of study

  Medicine

• Identifiers
  DOI 10.1056/NEJMra0904186PMID 20573928
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• In vivo genetic evidence for klotho‐dependent, fibroblast growth factor 23 (Fgf23) ‐mediated regulation of systemic phosphate homeostasis

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• Initial FGF23-mediated signaling occurs in the distal convoluted tubule.

  2009cited by this paper
• Relation Between Alkaline Phosphatase, Serum Phosphate, and All-Cause or Cardiovascular Mortality

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• FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1.

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  2008cited by this paper
• Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

  2008cited by this paper
• Role of hyperphosphatemia and 1,25-dihydroxyvitamin D in vascular calcification and mortality in fibroblastic growth factor 23 null mice.

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• Relations of serum phosphorus and calcium levels to the incidence of cardiovascular disease in the community.

  2007cited by this paper
• Regulation of Osteoclast Differentiation and Function by Phosphate: Potential Role of Osteoclasts in the Skeletal Abnormalities in Hypophosphatemic Conditions

  2007cited by this paper
• Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

  2007cited by this paper
• The parathyroid is a target organ for FGF23 in rats.

  2007cited by this paper
• NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.

  2006cited by this paper
• Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men.

  2006cited by this paper
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• DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

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  2005cited by this paper
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• Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

  2005cited by this paper
• Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes.

  2005cited by this paper
• Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis.

  2004cited by this paper
• FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa.

  2004cited by this paper
• Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism.

  2004cited by this paper
• Bone as a source of FGF23: regulation by phosphate?

  2004cited by this paper
• Targeted ablation of Fgf 23 demonstrates an essential physiological role of FGF 23 in phosphate and vitamin D metabolism

  2004cited by this paper
• FGF-23 is elevated by chronic hyperphosphatemia.

  2004cited by this paper
• Stimulation by Parathyroid Hormone of a NHERF-1-assembled Complex Consisting of the Parathyroid Hormone I Receptor, Phospholipase Cβ, and Actin Increases Intracellular Calcium in Opossum Kidney Cells*

  2004cited by this paper
• 1alpha-Hydroxylase gene ablation and Pi supplementation inhibit renal calcification in mice homozygous for the disrupted Npt2a gene.

  2004cited by this paper
• Immunohistochemical localization of Klotho protein in brain, kidney, and reproductive organs of mice.

  2004cited by this paper
• Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

  2004cited by this paper
• Klotho, a gene related to a syndrome resembling human premature aging, functions in a negative regulatory circuit of vitamin D endocrine system.

  2003cited by this paper
• FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.

  2003cited by this paper
• The Autosomal Dominant Hypophosphatemic Rickets R176Q Mutation in Fibroblast Growth Factor 23 Resists Proteolytic Cleavage and Enhances in Vivo Biological Potency*

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  2003cited by this paper
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  2003cited by this paper
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• Randall's plaque of patients with nephrolithiasis begins in basement membranes of thin loops of Henle.

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• Phosphate Is a Specific Signal for ATDC5 Chondrocyte Maturation and Apoptosis‐Associated Mineralization: Possible Implication of Apoptosis in the Regulation of Endochondral Ossification

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  2002cited by this paper
• Age-dependent regulation of rat intestinal type IIb sodium-phosphate cotransporter by 1,25-(OH)(2) vitamin D(3).

  2002cited by this paper
• Dietary phosphorus transcriptionally regulates 25-hydroxyvitamin D-1alpha-hydroxylase gene expression in the proximal renal tubule.

  2002cited by this paper
• Na+/H+ exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling

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• Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting

  2002cited by this paper
• Frequency of renal phosphate leak among patients with calcium nephrolithiasis.

  2001cited by this paper
• Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

  2001cited by this paper
• Interaction of the Type IIa Na/Pi Cotransporter with PDZ Proteins*

  2001cited by this paper
• Phosphate ions mediate chondrocyte apoptosis through a plasma membrane transporter mechanism.

  2001cited by this paper
• Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

  2001cited by this paper
• Npt2 gene disruption confers resistance to the inhibitory action of parathyroid hormone on renal sodium-phosphate cotransport.

  2000cited by this paper
• Proximal tubular phosphate reabsorption: molecular mechanisms.

  2000cited by this paper
• Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

  2000cited by this paper
• Calcium phosphate supersaturation regulates stone formation in genetic hypercalciuric stone-forming rats.

  2000cited by this paper
• Regulation of intestinal Na+-dependent phosphate co-transporters by a low-phosphate diet and 1,25-dihydroxyvitamin D3.

  1999cited by this paper
• Molecular cloning, functional characterization, tissue distribution, and chromosomal localization of a human, small intestinal sodium-phosphate (Na+-Pi) transporter (SLC34A2).

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• A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

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• Extracellular phosphate ions cause apoptosis of terminally differentiated epiphyseal chondrocytes.

  1999cited by this paper
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• Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.

  1998cited by this paper
• Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice.

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• Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia.

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