324 related articles for article (PubMed ID: 22142751)
1. Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
Farrow EG; Imel EA; White KE
Best Pract Res Clin Rheumatol; 2011 Oct; 25(5):735-47. PubMed ID: 22142751
[TBL] [Abstract][Full Text] [Related]
2. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.
Ichikawa S; Sorenson AH; Austin AM; Mackenzie DS; Fritz TA; Moh A; Hui SL; Econs MJ
Endocrinology; 2009 Jun; 150(6):2543-50. PubMed ID: 19213845
[TBL] [Abstract][Full Text] [Related]
3. Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.
Folsom LJ; Imel EA
Curr Osteoporos Rep; 2015 Apr; 13(2):78-87. PubMed ID: 25656441
[TBL] [Abstract][Full Text] [Related]
4. 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.
Garringer HJ; Fisher C; Larsson TE; Davis SI; Koller DL; Cullen MJ; Draman MS; Conlon N; Jain A; Fedarko NS; Dasgupta B; White KE
J Clin Endocrinol Metab; 2006 Oct; 91(10):4037-42. PubMed ID: 16868048
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz MS; Gourh P; Goldbach-Mansky R; Wodajo F; Ichikawa S; Econs MJ; White KE; Molinolo A; Chen MY; Heller T; Del Rivero J; Seo-Mayer P; Arabshahi B; Jackson MB; Hatab S; McCarthy E; Guthrie LC; Brillante BA; Gafni RI; Collins MT
J Bone Miner Res; 2016 Oct; 31(10):1845-1854. PubMed ID: 27164190
[TBL] [Abstract][Full Text] [Related]
6. 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
BMC Genet; 2014 Sep; 15():98. PubMed ID: 25249269
[TBL] [Abstract][Full Text] [Related]
7. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
Chefetz I; Sprecher E
Biochim Biophys Acta; 2009 Sep; 1792(9):847-52. PubMed ID: 19013236
[TBL] [Abstract][Full Text] [Related]
8. Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
Ito N; Fukumoto S
Calcif Tissue Int; 2021 Jan; 108(1):104-115. PubMed ID: 31965220
[TBL] [Abstract][Full Text] [Related]
9. Use of Teriparatide in Hyperphosphatemic Familial Tumor Calcinosis: Evaluating the Interaction Between FGF23 and PTH on the Phosphaturic Effect.
Pallone SG; Kunii IS; da Silva REC; Lazaretti-Castro M
Calcif Tissue Int; 2022 Jul; 111(1):102-106. PubMed ID: 35338393
[TBL] [Abstract][Full Text] [Related]
10. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in
Kışla Ekinci RM; Gürbüz F; Balcı S; Bişgin A; Taştan M; Yüksel B; Yılmaz M
J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):94-99. PubMed ID: 30015621
[TBL] [Abstract][Full Text] [Related]
11. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Dumitrescu CE; Kelly MH; Khosravi A; Hart TC; Brahim J; White KE; Farrow EG; Nathan MH; Murphey MD; Collins MT
Osteoporos Int; 2009 Jul; 20(7):1273-8. PubMed ID: 18982401
[TBL] [Abstract][Full Text] [Related]
12. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
Sprecher E
J Invest Dermatol; 2010 Mar; 130(3):652-60. PubMed ID: 19865099
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
Yancovitch A; Hershkovitz D; Indelman M; Galloway P; Whiteford M; Sprecher E; Kılıç E
J Bone Miner Metab; 2011 Sep; 29(5):621-5. PubMed ID: 21347749
[TBL] [Abstract][Full Text] [Related]
14. A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Chefetz I; Heller R; Galli-Tsinopoulou A; Richard G; Wollnik B; Indelman M; Koerber F; Topaz O; Bergman R; Sprecher E; Schoenau E
Hum Genet; 2005 Nov; 118(2):261-6. PubMed ID: 16151858
[TBL] [Abstract][Full Text] [Related]
15. GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.
Chefetz I; Kohno K; Izumi H; Uitto J; Richard G; Sprecher E
Biochim Biophys Acta; 2009 Jan; 1792(1):61-7. PubMed ID: 18976705
[TBL] [Abstract][Full Text] [Related]
16. A novel
Zuo Q; Yang W; Liu B; Yan D; Wang Z; Wang H; Deng W; Cao X; Yang J
Front Endocrinol (Lausanne); 2022; 13():1008800. PubMed ID: 36213261
[TBL] [Abstract][Full Text] [Related]
17. Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
Specktor P; Cooper JG; Indelman M; Sprecher E
J Hum Genet; 2006; 51(5):487-490. PubMed ID: 16528452
[TBL] [Abstract][Full Text] [Related]
18. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
Ichikawa S; Guigonis V; Imel EA; Courouble M; Heissat S; Henley JD; Sorenson AH; Petit B; Lienhardt A; Econs MJ
J Clin Endocrinol Metab; 2007 May; 92(5):1943-7. PubMed ID: 17311862
[TBL] [Abstract][Full Text] [Related]
19. Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
Chakhtoura M; Ramnitz MS; Khoury N; Nemer G; Shabb N; Abchee A; Berberi A; Hourani M; Collins M; Ichikawa S; El Hajj Fuleihan G
Osteoporos Int; 2018 Sep; 29(9):1987-2009. PubMed ID: 29923062
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]