(Q34561127)

3 August 2017

title

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets (English)

1 reference

3 August 2017

1 reference

Mary D Ruppe

1

1 reference

3 August 2017

Patrick G Brosnan

2

1 reference

3 August 2017

Kit Sing Au

3

1 reference

3 August 2017

Phong X Tran

4

1 reference

3 August 2017

Barbara W Dominguez

5

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3 August 2017

Hope Northrup

6

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3 August 2017

publication date

1 March 2011

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3 August 2017

published in

Clinical Endocrinology

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3 August 2017

volume

74

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3 August 2017

issue

3

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3 August 2017

page(s)

312-318

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Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Six genes expressed in bones and teeth encode the current members of the SIBLING family of proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

SIFT: Predicting amino acid changes that affect protein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

Nomogram for derivation of renal threshold phosphate concentration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03919.X

PSIC: profile extraction from sequence alignments with position-specific counts of independent observations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03919.X

Role of the vitamin D receptor in FGF23 action on phosphate metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03919.X

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03919.X

Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03919.X

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035757

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

27 October 2018

1 reference

12 December 2020

Discordance for X-linked hypophosphataemic rickets in identical twin girls

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical case seminar: Fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia

1 reference

12 December 2020

Direct measurement of TP/GFR: a simple and reliable parameter of renal phosphate handling

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis

1 reference

12 December 2020

10.1111/J.1365-2265.2010.03919.X

Identifiers

DOI

1 reference

3 August 2017

1 reference

3 August 2017

1 reference