(Q36293480)

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Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22865906%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations (English)

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Europe PubMed Central

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10 February 2020

Lourdes Mounien

8

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10 February 2020

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Paul Boepple

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10 February 2020

Harald Jüppner

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Harald Jüppner

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10 February 2020

Michael Mannstadt

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Michael Mannstadt

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10 February 2020

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Daniella Magen

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10 February 2020

Hiroko Segawa

3

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10 February 2020

Takara Stanley

4

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10 February 2020

Amita Sharma

5

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10 February 2020

Shohei Sasaki

6

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10 February 2020

Clemens Bergwitz

7

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10 February 2020

Bernhard Thorens

10

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10 February 2020

Israel Zelikovic

11

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10 February 2020

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3 August 2012

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10 February 2020

The Journal of Clinical Endocrinology and Metabolism

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10 February 2020

97

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10 February 2020

10

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10 February 2020

E1978-86

1 reference

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10 February 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

Type IIc sodium-dependent phosphate transporter regulates calcium metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 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=3462928

30 September 2017

Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 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=3462928

30 September 2017

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

30 September 2017

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

29 June 2018

Glut2-dependent glucose-sensing controls thermoregulation by enhancing the leptin sensitivity of NPY and POMC neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

22 September 2018

Allegro version 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3462928

5 December 2018

Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22865906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of age and the X-linked Hyp mutation on renal adaptation to vitamin D and calcium deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/22865906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/22865906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic reexpression of GLUT1 or GLUT2 in pancreatic beta cells rescues GLUT2-null mice from early death and restores normal glucose-stimulated insulin secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/22865906

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2012-1279

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22865906%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PMC publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22865906%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22865906%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

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