BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 22912827)

  • 1. 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; 7(8):e43205. PubMed ID: 22912827
    [TBL] [Abstract][Full Text] [Related]  

  • 2. N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.
    Esapa CT; Hannan FM; Babinsky VN; Potter P; Thomas GP; Croucher PI; Brown MA; Brown SD; Cox RD; Thakker RV
    PLoS One; 2015; 10(4):e0122650. PubMed ID: 25860694
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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
    [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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.
    Ichikawa S; Imel EA; Sorenson AH; Severe R; Knudson P; Harris GJ; Shaker JL; Econs MJ
    J Clin Endocrinol Metab; 2006 Nov; 91(11):4472-5. PubMed ID: 16940445
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).
    Vieira AR; Lee M; Vairo F; Loguercio Leite JC; Munerato MC; Visioli F; D'Ávila SR; Wang SK; Choi M; Simmer JP; Hu JC
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2015 Dec; 120(6):e235-9. PubMed ID: 26337219
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome.
    Peluso G; Tian E; Abusleme L; Munemasa T; Mukaibo T; Ten Hagen KG
    J Biol Chem; 2020 Jan; 295(5):1411-1425. PubMed ID: 31882545
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.
    Joseph L; Hing SN; Presneau N; O'Donnell P; Diss T; Idowu BD; Joseph S; Flanagan AM; Delaney D
    Skeletal Radiol; 2010 Jan; 39(1):63-8. PubMed ID: 19830424
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
    Frishberg Y; Topaz O; Bergman R; Behar D; Fisher D; Gordon D; Richard G; Sprecher E
    J Mol Med (Berl); 2005 Jan; 83(1):33-8. PubMed ID: 15599692
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 22(2):235-42. PubMed ID: 17129170
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.