(Q91860257)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

title

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

author name string

Ria Schönauer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Friederike Petzold

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Wilhelmina Lucinescu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Anna Seidel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Luise Müller

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Steffen Neuber

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Carsten Bergmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

John A Sayer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Andreas Werner

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

Jan Halbritter

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

publication date

23 February 2019

1 reference

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25 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

issue

6

1 reference

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25 April 2020

page(s)

511-519

1 reference

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Creative Commons Attribution 4.0 International

25 April 2020

copyright license

start time

23 February 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Role of phosphate sensing in bone and mineral metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Cation Interactions and Membrane Potential Induce Conformational Changes in NaPi-IIb

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Common and rare variants associated with kidney stones and biochemical traits

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Identification of the first sodium binding site of the phosphate cotransporter NaPi-IIa (SLC34A1)

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Expression cloning and radiotracer uptakes in Xenopus laevis oocytes

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

Topology of the type IIa Na+/P(i) cotransporter.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6825645

10.1007/S00240-019-01116-2

23 February 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30798342%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

PubMed publication ID

30798342

1 reference