A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis (Q24302045)

GOA release 2020-03-11

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9

Jouni Uitto

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Reuven Bergman

10

object named as

Reuven Bergman

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author name string

Orit Topaz

1

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Margarita Indelman

2

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Ilana Chefetz

3

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Dan Geiger

4

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Aryeh Metzker

5

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Yoram Altschuler

6

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Mordechai Choder

7

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Dani Bercovich

8

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Gabriele Richard

11

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Eli Sprecher

American Journal of Human Genetics

12

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language of work or name

English

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publication date

October 2006

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published in

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volume

79

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page(s)

759-64

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issue

4

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cites work

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

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SAM as a protein interaction domain involved in developmental regulation

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

19 March 2017

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

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The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23.

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Calcinosis in rheumatic diseases

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An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

27 September 2017

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27 September 2017

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

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

29 November 2018

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

29 November 2018

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

29 November 2018

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

29 November 2018

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Cutaneous deposition diseases. Part II

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16960814