Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis (Q34468172)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25050900%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis (English)

1 reference

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10 March 2020

1 reference

Abbhirami Rajagopal

1

1 reference

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10 March 2020

Débora Braslavsky

2

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10 March 2020

James T Lu

3

1 reference

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10 March 2020

Soledad Kleppe

4

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10 March 2020

Florencia Clément

5

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10 March 2020

Hamilton Cassinelli

6

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10 March 2020

David S Liu

7

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10 March 2020

Jose Miguel Liern

8

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10 March 2020

Graciela Vallejo

9

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10 March 2020

Ignacio Bergadá

10

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10 March 2020

Brendan H Lee

13

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10 March 2020

language of work or name

English

0 references

publication date

22 July 2014

1 reference

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The Journal of Clinical Endocrinology and Metabolism

10 March 2020

published in

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10 March 2020

volume

99

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10 March 2020

issue

11

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10 March 2020

page(s)

E2451-6

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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Genetic disorders of renal phosphate transport

6 July 2018

1 reference

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A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome

6 July 2018

1 reference

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Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa.

6 July 2018

1 reference

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The sodium phosphate cotransporter family SLC34

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

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

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Proximal tubular phosphate reabsorption: molecular mechanisms

6 July 2018

1 reference

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Posttranscriptional regulation of the proximal tubule NaPi-II transporter in response to PTH and dietary P(i).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Rapid downregulation of rat renal Na/P(i) cotransporter in response to parathyroid hormone involves microtubule rearrangement

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Phosphate transport in established renal epithelial cell lines.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Effect of parathyrin on the transport properties of isolated renal brush-border vesicles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Renal expression of the sodium/phosphate cotransporter gene, Npt2, is not required for regulation of renal 1 alpha-hydroxylase by phosphate.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223446

Parathyroid hormone and dietary phosphate provoke a lysosomal routing of the proximal tubular Na/Pi-cotransporter type II

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25050900

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2014-1517

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25050900%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

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10 March 2020

PubMed publication ID

25050900

1 reference