BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 31559735)

  • 1. Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
    Albaramki J; Dmour H; Shboul M; Bonnard C; Venkatesh B; Odeh R
    Turk J Pediatr; 2019; 61(1):130-133. PubMed ID: 31559735
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis.
    Demellawy DE; Chang N; de Nanassy J; Nasr A
    Scand J Rheumatol; 2015; 44(2):170-2. PubMed ID: 25351881
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
    Ichikawa S; Baujat G; Seyahi A; Garoufali AG; Imel EA; Padgett LR; Austin AM; Sorenson AH; Pejin Z; Topouchian V; Quartier P; Cormier-Daire V; Dechaux M; Malandrinou FCh; Singhellakis PN; Le Merrer M; Econs MJ
    Am J Med Genet A; 2010 Apr; 152A(4):896-903. PubMed ID: 20358599
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
    Mahjoubi F; Ghadir M; Samanian S; Heydari I; Honardoost M
    J Endocrinol Invest; 2020 Aug; 43(8):1125-1130. PubMed ID: 32125652
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.
    Goldenstein PT; Neves PD; Balbo BE; Elias RM; Pereira AC; Onuchic LF; Jüppner H; Jorgetti V; Abensur H; Moysés RM
    Am J Kidney Dis; 2018 Sep; 72(3):457-461. PubMed ID: 29548779
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.
    Masi L; Beltrami G; Ottanelli S; Franceschelli F; Gozzini A; Zonefrati R; Galli G; Ciuffi S; Mavilia C; Giusti F; Marcucci G; Cioppi F; Colli E; Fossi C; Franchi A; Casentini C; Capanna R; Brandi ML
    Calcif Tissue Int; 2015 May; 96(5):438-52. PubMed ID: 25899975
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Familial tumoral calcinosis: a forty-year follow-up on one family.
    Carmichael KD; Bynum JA; Evans EB
    J Bone Joint Surg Am; 2009 Mar; 91(3):664-71. PubMed ID: 19255228
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
    Gok F; Chefetz I; Indelman M; Kocaoglu M; Sprecher E
    Acta Orthop; 2009 Feb; 80(1):131-4. PubMed ID: 19297793
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.