Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation (Q37118591)

18 August 2017

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title

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation (English)

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18 August 2017

2

Harald Jüppner

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18 August 2017

1

Murat Bastepe

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18 August 2017

publication date

26 March 2008

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Reviews in Endocrine and Metabolic Disorders

18 August 2017

published in

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18 August 2017

volume

9

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18 August 2017

issue

2

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18 August 2017

page(s)

171-180

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Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

18 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS11154-008-9075-3

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-008-9075-3

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-008-9075-3

Parathyroid hormone regulates fibroblast growth factor-23 in a mouse model of primary hyperparathyroidism

21 January 2018

1 reference

12 December 2020

Osteoglophonic dysplasia

1 reference

12 December 2020

Fibroblast growth factor-23 relationship to dietary phosphate and renal phosphate handling in healthy young men.

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12 December 2020

Serum FGF23 levels in normal and disordered phosphorus homeostasis.

1 reference

12 December 2020

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets

1 reference

12 December 2020

Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder

1 reference

12 December 2020

1 reference

12 December 2020

"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect

1 reference

12 December 2020

Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation

1 reference

12 December 2020

Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia

1 reference

12 December 2020

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

12 December 2020

Establishment of the anti-Klotho monoclonal antibodies and detection of Klotho protein in kidneys

1 reference

12 December 2020

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

1 reference

12 December 2020

Phosphate transport: molecular basis, regulation and pathophysiology.

1 reference

12 December 2020

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

1 reference

12 December 2020

Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women

1 reference

12 December 2020

Biological activity of FGF-23 fragments

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation of the mouse klotho gene leads to a syndrome resembling ageing

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12 December 2020

FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets.

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12 December 2020

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

1 reference

12 December 2020

The parathyroid is a target organ for FGF23 in rats

1 reference

12 December 2020

Characterization of a novel dentin matrix acidic phosphoprotein. Implications for induction of biomineralization

1 reference

12 December 2020

Calcium and vitamin D: what is known about the effects on growing bone

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

FGF23 is processed by proprotein convertases but not by PHEX.

1 reference

12 December 2020

Proximal tubular handling of phosphate: A molecular perspective

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12 December 2020

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

12 December 2020

The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome

1 reference

12 December 2020

Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia

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12 December 2020

1alpha,25-Dihydroxyvitamin D3 upregulates FGF23 gene expression in bone: the final link in a renal-gastrointestinal-skeletal axis that controls phosphate transport

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12 December 2020

Dual functional roles of dentin matrix protein 1. Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store

1 reference

12 December 2020

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

1 reference

12 December 2020

NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.

1 reference

12 December 2020

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

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12 December 2020

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

1 reference

12 December 2020

New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.

1 reference

12 December 2020

Klotho: a fundamental regulator of aging

1 reference

12 December 2020

FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate

1 reference

12 December 2020

Osteoglophonic dwarfism.

1 reference

12 December 2020

DMP1--a key regulator in mineralized matrix formation

1 reference

12 December 2020

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

1 reference

12 December 2020

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

1 reference

12 December 2020

Regulation of fibroblast growth factor-23 signaling by klotho

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3.

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12 December 2020

Genetic causes of rickets

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12 December 2020

Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro

1 reference

12 December 2020

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

1 reference

12 December 2020

Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.

1 reference

12 December 2020

Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells

1 reference

12 December 2020

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting

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12 December 2020

Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism

1 reference

12 December 2020

Immunohistochemical localization of Klotho protein in brain, kidney, and reproductive organs of mice

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12 December 2020

The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23.

1 reference

12 December 2020

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

1 reference

12 December 2020

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

1 reference

12 December 2020

Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

1 reference

12 December 2020

Nomogram for derivation of renal threshold phosphate concentration

1 reference

12 December 2020

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

1 reference

12 December 2020

Generation of a conditional null allele for Dmp1 in mouse

1 reference

12 December 2020

Tumor-induced osteomalacia--unveiling a new hormone

1 reference

12 December 2020

Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases

1 reference

12 December 2020

DMP1-targeted Cre expression in odontoblasts and osteocytes

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12 December 2020

Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo.

1 reference

12 December 2020

TRPV5, the gateway to Ca2+ homeostasis

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12 December 2020

Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism

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12 December 2020

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

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12 December 2020

Klotho converts canonical FGF receptor into a specific receptor for FGF23

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12 December 2020

Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes

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12 December 2020

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

1 reference

12 December 2020

Fibroblast growth factor (FGF)-23 inhibits renal phosphate reabsorption by activation of the mitogen-activated protein kinase pathway

1 reference

12 December 2020

Pathogenic role of Fgf23 in Hyp mice.

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12 December 2020

Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype

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12 December 2020

Familial hypophosphatemic rickets showing autosomal dominant inheritance

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12 December 2020

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

1 reference

12 December 2020

Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

1 reference

12 December 2020

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function

1 reference

12 December 2020

10.1007/S11154-008-9075-3

Identifiers

DOI

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18 August 2017

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