(Q28292466)

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

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scholarly article

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

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Tumoral calcinosis

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based on heuristic

inferred from title

Paolo Beck-Peccoz

4

object named as

Paolo Beck-Peccoz

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author name string

Anna Maria Barbieri

1

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Marcello Filopanti

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Guido Bua

3

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language of work or name

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publication date

2007

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Journal of Human Genetics

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52

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5

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464-8

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nomogram for derivation of renal threshold phosphate concentration

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Phosphatonins" and the regulation of phosphorus homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phosphatonin pathway: new insights in phosphate homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17351710

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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