Mikä geenitausta on hyperfosfatemisen tumoraalin kalsinoosin takana?

1.  hakusana Hyperphosphataemic tumoral calcinosis
2. Ilmenee geeni GLNT3 mutaatioita   Katon lopuksi GALNT3 geenin ihmisellä

2007

J Clin Endocrinol Metab. 2006 Nov;91(11):4472-5. Epub 2006 Aug 29.

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

Ichikawa S¹, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ.

2009

Endocrinology. 2009 Jun;150(6):2543-50. doi: 10.1210/en.2008-0877. Epub 2009 Feb 12.

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.

Ichikawa S¹, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, Hui SL, Econs MJ.

 2011

https://www.ncbi.nlm.nih.gov/pubmed/22009723/

Endocrinology. 2011 Dec;152(12):4504-13. doi: 10.1210/en.2011-1137. Epub 2011 Oct 18.

Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

Ichikawa S¹, Austin AM, Gray AK, Allen MR, Econs MJ.

 

2014 

 

https://www.ncbi.nlm.nih.gov/pubmed/25249269 

BMC Genet. 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3.

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Rafaelsen S, Johansson S, Ræder H, Bjerknes R.

 

 2015 

Curr Osteoporos Rep. 2015 Apr;13(2):78-87. doi: 10.1007/s11914-015-0254-3.

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Folsom LJ¹, Imel EA.

 

 2016

 https://www.ncbi.nlm.nih.gov/pubmed/27164190

J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20.

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Ramnitz MS¹, Gourh P², Goldbach-Mansky R², Wodajo F³, Ichikawa S⁴, Econs MJ^4,5, White KE⁵, Molinolo A¹, Chen MY⁶, Heller T⁷, Del Rivero J⁸, Seo-Mayer P⁹, Arabshahi B¹⁰, Jackson MB¹¹, Hatab S¹², McCarthy E¹³, Guthrie LC¹, Brillante BA¹, Gafni RI¹, Collins MT¹⁴.