Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis (Q83469034)

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23 January 2020

title

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis (English)

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hyperphosphatemic familial tumoral calcinosis

23 January 2020

main subject

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author

Dov Hershkovitz

2

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23 January 2020

author name string

Alan Yancovitch

1

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23 January 2020

Margareta Indelman

3

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23 January 2020

Peter Galloway

4

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23 January 2020

Margo Whiteford

5

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23 January 2020

Eli Sprecher

6

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23 January 2020

Esra Kılıç

7

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23 January 2020

publication date

25 February 2011

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Journal of Bone and Mineral Metabolism

23 January 2020

published in

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23 January 2020

volume

29

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23 January 2020

issue

5

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23 January 2020

page(s)

621-625

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

23 January 2020

cites work

1 reference

12 December 2020

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

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12 December 2020

Fibroblast growth factor 23: roles in health and disease

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

1 reference

12 December 2020

Two novel GALNT3 mutations in familial tumoral calcinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Physiological regulation and disorders of phosphate metabolism--pivotal role of fibroblast growth factor 23

1 reference

12 December 2020

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

1 reference

12 December 2020

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

1 reference

12 December 2020

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

1 reference

12 December 2020

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

1 reference

12 December 2020

How fibroblast growth factor 23 works

1 reference

12 December 2020

The role of abnormal phosphorus metabolism in the progression of chronic kidney disease and metastatic calcification

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.

1 reference

12 December 2020

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

1 reference

12 December 2020

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

1 reference

12 December 2020

10.1007/S00774-011-0260-1

Identifiers

DOI

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23 January 2020

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