The molecular background to hypophosphataemic rickets (Q34010727)

30 July 2017

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title

The molecular background to hypophosphataemic rickets (English)

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30 July 2017

Rowe PS

1

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30 July 2017

language of work or name

English

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publication date

1 September 2000

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Archives of Disease in Childhood

30 July 2017

published in

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30 July 2017

volume

83

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30 July 2017

issue

3

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30 July 2017

page(s)

192-194

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

30 July 2017

cites work

1 reference

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Recent advances in epithelial sodium-coupled phosphate transport

5 July 2018

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Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Sodium-dependent phosphate co-transporters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

X-linked hypophosphataemia: a homologous disorder in humans and mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

1,25-(OH)2D3 down-regulates expression of Phex, a marker of the mature osteoblast

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Identification of three isoforms for the Na -dependent phosphate cotransporter (NaPi-2) in rat kidney

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

The role of the PHEX gene (PEX) in families with X-linked hypophosphataemic rickets

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Regulation of type II renal Na -dependent inorganic phosphate transporters by 1,25-dihydroxyvitamin D3. Identification of a vitamin D-responsive element in the human NAPi-3 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Oncogenic osteomalacia: is there a new phosphate regulating hormone?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Evidence of ectokinase-mediated phosphorylation of osteopontin and bone sialoprotein by osteoblasts during bone formation in vitro

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Cellular and molecular mechanisms of renal phosphate transport

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Hypophosphatemia induced in mice by transplantation of a tumor-derived cell line from a patient with oncogenic rickets

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Candidate 56 and 58 kDa protein(s) responsible for mediating the renal defects in oncogenic hypophosphatemic osteomalacia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Inhibitors of renal epithelial phosphate transport in tumor-induced osteomalacia and uremia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Abnormal bone formation induced by implantation of osteosarcoma-derived bone-inducing substance in the X-linked hypophosphatemic mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

The Gy mutation: another cause of X-linked hypophosphatemia in mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Defective bone formation by transplanted Hyp mouse bone cells into normal mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Oncogenous osteomalacia: a case study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Abnormal response of osteoblasts from Hyp mice to 1,25-dihydroxyvitamin D3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Defective bone formation by hyp mouse bone cells transplanted into normal mice: Evidence in favor of an intrinsic osteoblast defect

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Vitamin D-resistant rickets associated withepidermal nevus syndrome: Demonstration of a phosphaturic substance in the dermal lesions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718477

The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)

29 October 2018

1 reference

12 December 2020

Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3

1 reference

12 December 2020

Characteristics of tumor cell bioactivity in oncogenic osteomalacia

1 reference

12 December 2020

Skeletal Casein Kinase Activity Defect in the HYP Mouse

1 reference

12 December 2020

The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism

1 reference

12 December 2020

Pex mRNA is localized in developing mouse osteoblasts and odontoblasts

1 reference

12 December 2020

Differential expression, abundance, and regulation of Na -phosphate cotransporter genes in murine kidney

1 reference

12 December 2020

Mutational analysis of PHEX gene in X-linked hypophosphatemia

1 reference

12 December 2020

Hemangiopericytoma-induced osteomalacia: tumor transplantation in nude mice causes hypophosphatemia and tumor extracts inhibit renal 25-hydroxyvitamin D 1-hydroxylase activity

1 reference

12 December 2020

Effect of phosphorus supplementation on bone formation induced by osteosarcoma-derived bone-inducing substance in X-linked hypophosphatemic mice

1 reference

12 December 2020

Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia

1 reference

12 December 2020

Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia

1 reference

12 December 2020

Effect of 1,25-dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice

1 reference

12 December 2020

Altered osteoblast gluconeogenesis in X-linked hypophosphatemic mice is associated with a depressed intracellular pH

1 reference

12 December 2020

The role of abnormal vitamin D metabolism in X-linked hypophosphatemic rickets and osteomalacia

1 reference

12 December 2020

Abnormal relationship between serum phosphate concentration and renal 25-hydroxycholecalciferol-1-alpha-hydroxylase activity in X-linked hypophosphatemic mice

1 reference

12 December 2020

Renal Na( )-phosphate cotransporter gene expression in X-linked Hyp and Gy mice

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.83.3.192

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30 July 2017

1 reference

30 July 2017

1 reference