Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred (Q39482366)

12 September 2017

title

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

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hyperphosphatemic familial tumoral calcinosis

12 September 2017

main subject

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author name string

Polina Specktor

1

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12 September 2017

John G Cooper

2

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12 September 2017

Margarita Indelman

3

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12 September 2017

Eli Sprecher

4

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12 September 2017

publication date

10 March 2006

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Journal of Human Genetics

12 September 2017

published in

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12 September 2017

volume

51

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12 September 2017

issue

5

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12 September 2017

page(s)

487-490

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Tumoral Calcinosis--an Unrecognized Disease

12 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007/S10038-006-0377-6

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

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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

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

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

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Post-translational modification of Fibroblast Growth Factor 23.

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Inhibition of intestinal sodium-dependent inorganic phosphate transport by fibroblast growth factor 23.

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Role of the vitamin D receptor in FGF23 action on phosphate metabolism

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Vitamin D receptor-independent FGF23 actions in regulating phosphate and vitamin D metabolism

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Proposal for a pathogenesis-based classification of tumoral calcinosis

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

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Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review

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Tumoral calcinosis: case reports from Saudi Arabia with a review of the literature

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An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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Head and neck manifestations of tumoral calcinosis

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Tumoral calcinosis in Somalia and Ethiopia: a report of twenty one cases and brief review of literature

1 reference

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

1 reference

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Human fibroblast growth factor-23 mutants suppress Na -dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production

1 reference

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"Phosphatonins" and the regulation of phosphorus homeostasis

1 reference

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Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23

1 reference

12 December 2020

10.1007/S10038-006-0377-6

Identifiers

DOI

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12 September 2017

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