(Q37210780)

English

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression

scientific article published on 12 February 2009

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression (English)

1 reference

Europe PubMed Central

19 August 2017

Michael J. Econs

object named as

Michael J Econs

8

0 references

7

object named as

Siu L Hui

1 reference

Europe PubMed Central

19 August 2017

author name string

Shoji Ichikawa

1

1 reference

Europe PubMed Central

19 August 2017

Andrea H Sorenson

2

1 reference

Europe PubMed Central

19 August 2017

Anthony M Austin

3

1 reference

Europe PubMed Central

19 August 2017

Donald S Mackenzie

4

1 reference

Europe PubMed Central

19 August 2017

Timothy A Fritz

5

1 reference

Europe PubMed Central

19 August 2017

Akira Moh

6

1 reference

Europe PubMed Central

19 August 2017

language of work or name

0 references

publication date

12 February 2009

1 reference

Europe PubMed Central

19 August 2017

number of pages

8

1 reference

based on heuristic

inferred from page(s)

1 reference

Europe PubMed Central

19 August 2017

150

1 reference

Europe PubMed Central

19 August 2017

6

1 reference

Europe PubMed Central

19 August 2017

2543-2550

1 reference

Europe PubMed Central

19 August 2017

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Klotho converts canonical FGF receptor into a specific receptor for FGF23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Regulation of fibroblast growth factor-23 signaling by klotho

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Fibroblast growth factor 23: roles in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 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=2689800

6 September 2017

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 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=2689800

6 September 2017

Klotho, a gene related to a syndrome resembling human premature aging, functions in a negative regulatory circuit of vitamin D endocrine system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Cloning and characterization of a close homologue of human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase-T3, designated GalNAc-T6. Evidence for genetic but not functional redundancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Mutation of the mouse klotho gene leads to a syndrome resembling ageing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

cDNA cloning and expression of a novel UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Molecular cloning of a rat submandibular gland apomucin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

6 September 2017

Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

14 September 2017

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

14 September 2017

Cloning and sequence homology of a rat UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

26 June 2018

Gene expression analysis of kidneys from transgenic mice expressing fibroblast growth factor-23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

Premature aging-like phenotype in fibroblast growth factor 23 null mice is a vitamin D-mediated process

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

Mediation of unusually high concentrations of 1,25-dihydroxyvitamin D in homozygous klotho mutant mice by increased expression of renal 1alpha-hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689800

3 September 2018

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19213845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NovelGALNT3Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19213845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel GALNT3 mutations in familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19213845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/EN.2008-0877

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

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