(Q24299058)

English

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

scientific article

In more languages

Statements

scholarly article

0 references

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 (English)

0 references

hereditary hypophosphatemic rickets with hypercalciuria

0 references

0 references

Solute carrier family 34 member 3

1 reference

GOA release 2020-03-11

cellular phosphate ion homeostasis

1 reference

GOA release 2020-03-11

14

object named as

Kenneth Morgan

0 references

J Concepción Loredo-Osti

4

object named as

J C Loredo-Osti

0 references

Harald Jüppner

16

object named as

Harald Juppner

0 references

5

object named as

Murat Bastepe

0 references

Donald M. Anderson

10

object named as

Donald Anderson

0 references

author name string

Clemens Bergwitz

1

0 references

Nicole M Roslin

2

0 references

Martin Tieder

3

0 references

Hilal Abu-Zahra

6

0 references

Danielle Frappier

7

0 references

Kelly Burkett

8

0 references

Thomas O Carpenter

9

0 references

Michele Garabedian

11

0 references

Isabelle Sermet

12

0 references

T Mary Fujiwara

13

0 references

Harriet S Tenenhouse

15

0 references

language of work or name

0 references

publication date

February 2006

0 references

American Journal of Human Genetics

0 references

78

0 references

2

0 references

179-92

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

Growth-related renal type II Na/Pi cotransporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 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=1380228

19 March 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=1380228

19 March 2017

The UCSC Genome Browser Database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

The sodium phosphate cotransporter family SLC34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

Proximal tubular phosphate reabsorption: molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

Cloning, gene structure and dietary regulation of the type-IIc Na/Pi cotransporter in the mouse kidney

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

Forging the link between structure and function of electrogenic cotransporters: the renal type IIa Na+/Pi cotransporter as a case study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

19 March 2017

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

7 April 2017

Using CLUSTAL for multiple sequence alignments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

7 April 2017

Renouncing electroneutrality is not free of charge: switching on electrogenicity in a Na+-coupled phosphate cotransporter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Regulation of phosphorus homeostasis by the type iia na/phosphate cotransporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

NaPi-IIa and interacting partners.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Physiological regulation of renal sodium-dependent phosphate cotransporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Segment-specific expression of sodium-phosphate cotransporters NaPi-IIa and -IIc and interacting proteins in mouse renal proximal tubules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Molecular determinants for apical expression of the renal type IIa Na+/Pi-cotransporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

A dibasic motif involved in parathyroid hormone-induced down-regulation of the type IIa NaPi cotransporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Characterization of the human type II Na/Pi-cotransporter promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Identification and characterization of a widely expressed phosphate transporter/retrovirus receptor family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

27 September 2017

Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

30 May 2018

Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

30 May 2018

Substrate interactions in the human type IIa sodium-phosphate cotransporter (NaPi-IIa).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 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=1380228

29 November 2018

1alpha-Hydroxylase gene ablation and Pi supplementation inhibit renal calcification in mice homozygous for the disrupted Npt2a gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

Exact genetic linkage computations for general pedigrees.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

Identification of the type II Na(+)-Pi cotransporter (Npt2) in the osteoclast and the skeletal phenotype of Npt2-/- mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

The power to detect linkage in complex disease by means of simple LOD-score analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380228

29 November 2018

Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of misspecification of gene frequency on the two-point LOD score

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parathyroid hormone action on phosphate transporter mRNA and protein in rat renal proximal tubules

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16358214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24299058&oldid=1620721076"