(Q36844496)

English

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

scientific article published on 14 May 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

hereditary hypophosphatemic rickets with hypercalciuria

0 references

Harald Jüppner

4

object named as

Harald Jüppner

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

author name string

Graciana Jaureguiberry

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Thomas O Carpenter

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Stuart Forman

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Clemens Bergwitz

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

publication date

14 May 2008

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

American Journal of Physiology - Renal Physiology

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

295

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

F371-9

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Interactions of the growth-related, type IIc renal sodium/phosphate cotransporter with PDZ proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

Parathyroid hormone-dependent endocytosis of renal type IIc Na-Pi cotransporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

The renal Na+/phosphate cotransporter NaPi-IIa is internalized via the receptor-mediated endocytic route in response to parathyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 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=2519180

29 September 2017

Novel aspects in regulated 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=2519180

29 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=2519180

29 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=2519180

29 September 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=2519180

29 September 2017

PDZ-domain interactions and apical expression of type IIa Na/P(i) cotransporters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 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=2519180

29 September 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=2519180

29 September 2017

PTH-Induced downregulation of the type IIa Na/P(i)-cotransporter is independent of known endocytic motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

Stoichiometry and Na+ binding cooperativity of rat and flounder renal type II Na+-Pi cotransporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 2017

Functional characterization and visualization of a GABAA receptor-GFP chimera expressed in Xenopus oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

29 September 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=2519180

29 September 2017

Classic benzodiazepines modulate the open-close equilibrium in alpha1beta2gamma2L gamma-aminobutyric acid type A receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

27 June 2018

Clonal sublines that are morphologically and functionally distinct from parental OK cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

27 June 2018

Sodium-dependent phosphate transport inhibited by parathyroid hormone and cyclic AMP stimulation in an opossum kidney cell line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

27 June 2018

Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

5 September 2018

Internalization of renal type IIc Na-Pi cotransporter in response to a high-phosphate diet.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2519180

5 September 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=2519180

5 September 2018

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18480181

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/18480181

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/18480181

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/18480181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/18480181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1152/AJPRENAL.00090.2008

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

0 references

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