(Q24540520)

6 July 2017

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

1 reference

hereditary hypophosphatemic rickets with hypercalciuria

6 July 2017

0 references

9

Peter Lichtner

1 reference

6 July 2017

Bettina Lorenz-Depiereux

1

object named as

Bettina Lorenz-Depiereux

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author name string

Bettina Lorenz-Depiereux

1

1 reference

6 July 2017

Anna Benet-Pages

2

1 reference

6 July 2017

Gertrud Eckstein

3

1 reference

6 July 2017

Yardena Tenenbaum-Rakover

4

1 reference

6 July 2017

Janine Wagenstaller

5

1 reference

6 July 2017

Dov Tiosano

6

1 reference

6 July 2017

Ruth Gershoni-Baruch

7

1 reference

6 July 2017

Norbert Albers

8

1 reference

6 July 2017

Dirk Schnabel

10

1 reference

6 July 2017

Ze'ev Hochberg

11

1 reference

6 July 2017

Tim M Strom

12

1 reference

6 July 2017

language of work or name

English

0 references

publication date

9 December 2005

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

78

1 reference

6 July 2017

193-201

1 reference

6 July 2017

2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

6 July 2017

1 reference

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Expression cloning of human and rat renal cortex Na/Pi cotransport

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

The sodium phosphate cotransporter family SLC34

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Allegro, a new computer program for multipoint linkage analysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

FGF23 is processed by proprotein convertases but not by PHEX.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

A metric map of humans: 23,500 loci in 850 bands

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Construction of multilocus genetic linkage maps in humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

A single case of hypophosphatemic rickets with hypercalciuria.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380229

Hereditary hypophosphatemic rickets with hypercalciuria

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16358215

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16358215

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16358215

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/499410

1 reference

6 July 2017

1 reference

6 July 2017

1 reference