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Journal Abstract Search

227 related items for PubMed ID: 16940445

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  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 6. A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.
    Olauson H, Krajisnik T, Larsson C, Lindberg B, Larsson TE.
    Eur J Endocrinol; 2008 Jun; 158(6):929-34. PubMed ID: 18322299
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  • 9. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
    Ichikawa S, Lyles KW, Econs MJ.
    J Clin Endocrinol Metab; 2005 Apr; 90(4):2420-3. PubMed ID: 15687324
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  • 10. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.
    Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE.
    J Clin Endocrinol Metab; 2005 Apr; 90(4):2424-7. PubMed ID: 15687325
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  • 13. 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 24; 15():98. PubMed ID: 25249269
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  • 14. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.
    Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P.
    J Hum Genet; 2007 Sep 24; 52(5):464-468. PubMed ID: 17351710
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  • 16. 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 24; 31(10):1845-1854. PubMed ID: 27164190
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  • 17. Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey.
    Kışla Ekinci RM, Gürbüz F, Balcı S, Bişgin A, Taştan M, Yüksel B, Yılmaz M.
    J Clin Res Pediatr Endocrinol; 2019 Feb 20; 11(1):94-99. PubMed ID: 30015621
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  • 18. Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.
    Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, Navon-Elkan P, Becker-Cohen R, Yamashita T, Araya K, Igarashi T, Fujita T, Fukumoto S.
    J Bone Miner Res; 2007 Feb 20; 22(2):235-42. PubMed ID: 17129170
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  • 19. A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
    Esapa CT, Head RA, Jeyabalan J, Evans H, Hough TA, Cheeseman MT, McNally EG, Carr AJ, Thomas GP, Brown MA, Croucher PI, Brown SD, Cox RD, Thakker RV.
    PLoS One; 2012 Feb 20; 7(8):e43205. PubMed ID: 22912827
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  • 20. 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 20; 1792(1):61-7. PubMed ID: 18976705
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