(Q37417445)

English

Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

scientific article published on 16 October 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Harald Jüppner

7

object named as

Harald Jüppner

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

author name string

Clemens Bergwitz

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Santanu Banerjee

2

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Hilal Abu-Zahra

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Hiroshi Kaji

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Akimitsu Miyauchi

5

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Toshitsugu Sugimoto

6

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

language of work or name

0 references

publication date

16 October 2009

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

94

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

11

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

4267-4274

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

6 September 2017

PHEX, FGF23, DMP1 and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

6 September 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=2775647

6 September 2017

Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

6 September 2017

Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

6 September 2017

FGF23 is a hormone-regulating phosphate metabolism--unique biological characteristics of FGF23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

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=2775647

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=2775647

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=2775647

6 September 2017

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

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=2775647

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=2775647

14 September 2017

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=2775647

2 September 2018

A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

2 September 2018

Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

2 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=2775647

2 September 2018

Effect of fibroblast growth factor-23 on phosphate transport in proximal tubules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

2 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=2775647

2 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=2775647

2 September 2018

Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

2 September 2018

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

2 September 2018

Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775647

2 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19837926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between hyperphosphatemia and type II Na-Pi cotransporter activity in klotho mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/19837926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2009-0961

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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