Genetic diseases of renal phosphate handling (Q38244118)

31 August 2017

Genetic diseases of renal phosphate handling (English)

1 reference

31 August 2017

2

Isabel Rubio-Aliaga

1 reference

31 August 2017

3

Jürg Biber

1 reference

31 August 2017

Carsten A Wagner

1

1 reference

31 August 2017

Nati Hernando

series ordinal

4

1 reference

31 August 2017

language of work or name

English

0 references

publication date

1 September 2014

1 reference

Nephrology Dialysis Transplantation

31 August 2017

1 reference

31 August 2017

29 Suppl 4

1 reference

31 August 2017

iv45-54

1 reference

Serum phosphorus in people with chronic kidney disease: you are what you eat.

31 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Phosphate toxicity and vascular mineralization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The SLC34 family of sodium-dependent phosphate transporters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Phosphate transporters and their function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Phosphate transporters of the SLC20 and SLC34 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Sodium-dependent phosphate cotransporters: lessons from gene knockout and mutation studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Phosphate homeostasis and the renal-gastrointestinal axis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Characterization of a murine type II sodium-phosphate cotransporter expressed in mammalian small intestine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Renal phosphaturia during metabolic acidosis revisited: molecular mechanisms for decreased renal phosphate reabsorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Acute parathyroid hormone differentially regulates renal brush border membrane phosphate cotransporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Structural fold and binding sites of the human Na⁺-phosphate cotransporter NaPi-II

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Cloning, gene structure and dietary regulation of the type-IIc Na/Pi cotransporter in the mouse kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Substrate interactions in the human type IIa sodium-phosphate cotransporter (NaPi-IIa).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The functional unit of the renal type IIa Na+/Pi cotransporter is a monomer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Monitoring protein-protein interactions between the mammalian integral membrane transporters and PDZ-interacting partners using a modified split-ubiquitin membrane yeast two-hybrid system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Renouncing electroneutrality is not free of charge: switching on electrogenicity in a Na+-coupled phosphate cotransporter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Involvement of the MAPK-kinase pathway in the PTH-mediated regulation of the proximal tubule type IIa Na+/Pi cotransporter in mouse kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Defective coupling of apical PTH receptors to phospholipase C prevents internalization of the Na+-phosphate cotransporter NaPi-IIa in Nherf1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The role of NHERF-1 in the regulation of renal proximal tubule sodium-hydrogen exchanger 3 and sodium-dependent phosphate cotransporter 2a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Parathyroid hormone treatment induces dissociation of type IIa Na+-P(i) cotransporter-Na+/H+ exchanger regulatory factor-1 complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Parathyroid hormone inhibits renal phosphate transport by phosphorylation of serine 77 of sodium-hydrogen exchanger regulatory factor-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Regulation and function of the FGF23/klotho endocrine pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Initial FGF23-mediated signaling occurs in the distal convoluted tubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The renal Na+/phosphate cotransporter NaPi-IIa is internalized via the receptor-mediated endocytic route in response to parathyroid hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Kidney-specific inactivation of the megalin gene impairs trafficking of renal inorganic sodium phosphate cotransporter (NaPi-IIa).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Parathyroid hormone leads to the lysosomal degradation of the renal type II Na/Pi cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Physiological regulation of renal sodium-dependent phosphate cotransporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Renal tubular adaptation to dietary phosphorus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The phosphate transporter NaPi-IIa determines the rapid renal adaptation to dietary phosphate intake in mouse irrespective of persistently high FGF23 levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Interactions between Vitamin D Deficiency and Phosphorus Depletion in the Rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Intestinal and renal adaptation to a low-Pi diet of type II NaPi cotransporters in vitamin D receptor- and 1alphaOHase-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Inorganic phosphate homeostasis. Renal adaptation to the dietary intake in intact and thyroparathyroidectomized rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Type IIc sodium-dependent phosphate transporter regulates calcium metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

NHERF1 mutations and responsiveness of renal parathyroid hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Bone as a source of FGF23: regulation by phosphate?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Fibroblast growth factor 23 and Klotho: physiology and pathophysiology of an endocrine network of mineral metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: a bone parathyroid feedback loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Vitamin D receptor in chondrocytes promotes osteoclastogenesis and regulates FGF23 production in osteoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

FGF23 is processed by proprotein convertases but not by PHEX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Circulating αKlotho influences phosphate handling by controlling FGF23 production

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Fibroblast growth factor 23: roles in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Secreted frizzled-related protein-4 reduces sodium-phosphate co-transporter abundance and activity in proximal tubule cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Genetic ablation of sfrp4 in mice does not affect serum phosphate homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

MEPE has the properties of an osteoblastic phosphatonin and minhibin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Differential effects of Npt2a gene ablation and X-linked Hyp mutation on renal expression of Npt2c.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

Common genetic variants associate with serum phosphorus concentration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFU217

21 January 2018

Identifiers

DOI

10.1093/NDT/GFU217

1 reference

release_qauq36ulyfe4rjbh7xopxv5yzy

31 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qauq36ulyfe4rjbh7xopxv5yzy

mapped directly with Wikidata item

24 November 2022

based on heuristic

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