(Q37216979)

English

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

scientific article

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features (English)

1 reference

Europe PubMed Central

19 August 2017

1 reference

based on heuristic

inferred from title

author name string

C E Dumitrescu

1

1 reference

Europe PubMed Central

19 August 2017

M H Kelly

2

1 reference

Europe PubMed Central

19 August 2017

A Khosravi

3

1 reference

Europe PubMed Central

19 August 2017

T C Hart

4

1 reference

Europe PubMed Central

19 August 2017

J Brahim

5

1 reference

Europe PubMed Central

19 August 2017

K E White

6

1 reference

Europe PubMed Central

19 August 2017

E G Farrow

7

1 reference

Europe PubMed Central

19 August 2017

M H Nathan

8

1 reference

Europe PubMed Central

19 August 2017

M D Murphey

9

1 reference

Europe PubMed Central

19 August 2017

M T Collins

10

1 reference

Europe PubMed Central

19 August 2017

language of work or name

0 references

publication date

4 November 2008

1 reference

Europe PubMed Central

19 August 2017

Osteoporosis International

1 reference

Europe PubMed Central

19 August 2017

20

1 reference

Europe PubMed Central

19 August 2017

7

1 reference

Europe PubMed Central

19 August 2017

1273-1278

1 reference

Europe PubMed Central

19 August 2017

https://scigraph.springernature.com/pub.10.1007/s00198-008-0775-z

0 references

A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

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=2692468

6 September 2017

The emerging role of the fibroblast growth factor-23-klotho axis in renal regulation of phosphate homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

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=2692468

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=2692468

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=2692468

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=2692468

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=2692468

6 September 2017

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

6 September 2017

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

6 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=2692468

14 September 2017

FGF23 is processed by proprotein convertases but not by PHEX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

14 September 2017

Inhibition of carbonic anhydrase by parathyroid hormone and cyclic AMP in rat renal cortex in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

14 September 2017

Increased cAMP in proximal tubules is acute effect of nicotinamide analogues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

26 June 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=2692468

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=2692468

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=2692468

3 September 2018

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692468

3 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=2692468

3 September 2018

Two novel GALNT3 mutations in familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18982401

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Untangling klotho's role in calcium homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18982401

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/18982401

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dental lesions in tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18982401

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00198-008-0775-Z

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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