(Q38081019)

English

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

scientific article published on 09 February 2013

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scholarly article

1 reference

Europe PubMed Central

28 August 2017

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

1 reference

Europe PubMed Central

28 August 2017

pathophysiology

1 reference

based on heuristic

inferred from title

Erica L. Clinkenbeard

2

object named as

Erica L Clinkenbeard

1 reference

Europe PubMed Central

28 August 2017

author name string

Jian Q Feng

1

1 reference

Europe PubMed Central

28 August 2017

Baozhi Yuan

3

1 reference

Europe PubMed Central

28 August 2017

Kenneth E White

4

1 reference

Europe PubMed Central

28 August 2017

Marc K Drezner

5

1 reference

Europe PubMed Central

28 August 2017

publication date

9 February 2013

1 reference

Europe PubMed Central

28 August 2017

1 reference

Europe PubMed Central

28 August 2017

54

1 reference

Europe PubMed Central

28 August 2017

2

1 reference

Europe PubMed Central

28 August 2017

213-221

1 reference

Europe PubMed Central

28 August 2017

Hexa-D-arginine treatment increases 7B2•PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Unique roles of phosphorus in endochondral bone formation and osteocyte maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Failure to process dentin matrix protein 1 (DMP1) into fragments leads to its loss of function in osteogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Osteocytes as dynamic multifunctional cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

DMP1 depletion decreases bone mineralization in vivo: an FTIR imaging analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Furin: a mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

A YAC contig spanning the hypophosphatemic rickets disease gene (HYP) candidate region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Human furin is a calcium-dependent serine endoprotease that recognizes the sequence Arg-X-X-Arg and efficiently cleaves anthrax toxin protective antigen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

6 September 2017

FGF23 is processed by proprotein convertases but not by PHEX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

14 September 2017

DMP1 processing is essential to dentin and jaw formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

23 June 2018

DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

23 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

23 June 2018

Growth Disturbance in Hereditary Hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

23 June 2018

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

Pathogenic role of Fgf23 in Hyp mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

31 August 2018

Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672228

3 December 2018

Familial hypophosphatemic rickets showing autosomal dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcification of entheses associated with X-linked hypophosphatemic osteomalacia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Flanking markers define the X-linked hypophosphatemic rickets gene locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphism at the DXS1683 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23403405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.BONE.2013.01.046

1 reference

Europe PubMed Central

28 August 2017

1 reference

Europe PubMed Central

28 August 2017

1 reference

Europe PubMed Central

28 August 2017

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