BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 32392277)

  • 1. Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease.
    Merlotti D; Materozzi M; Bianciardi S; Guarnieri V; Rendina D; Volterrani L; Bellan C; Mingiano C; Picchioni T; Frosali A; Orfanelli U; Cenci S; Gennari L
    J Clin Endocrinol Metab; 2020 Aug; 105(8):. PubMed ID: 32392277
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone.
    Scotto di Carlo F; Pazzaglia L; Esposito T; Gianfrancesco F
    J Bone Miner Res; 2020 Aug; 35(8):1387-1398. PubMed ID: 31991009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.
    Wei Z; Li S; Tao X; Zhu G; Sun Z; Wei Z; Jiao Q; Zhang H; Chen L; Li B; Zhang Z; Yue H
    J Bone Miner Res; 2021 Jun; 36(6):1088-1103. PubMed ID: 33599011
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.
    Huybrechts Y; De Ridder R; Steenackers E; Devogelaer JP; Mortier G; Hendrickx G; Van Hul W
    Calcif Tissue Int; 2023 Nov; 113(5):552-557. PubMed ID: 37728743
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
    Falchetti A; Di Stefano M; Marini F; Del Monte F; Gozzini A; Masi L; Tanini A; Amedei A; Carossino A; Isaia G; Brandi ML
    Arthritis Res Ther; 2005; 7(6):R1289-95. PubMed ID: 16277682
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical, Biochemical, Radiological, and Genetic Analyses of a Patient with VCP Gene Variant-Induced Paget's Disease of Bone.
    Zhang Y; Gao P; Yan S; Zhang Q; Wang O; Jiang Y; Xing X; Xia W; Li M
    Calcif Tissue Int; 2022 Apr; 110(4):518-528. PubMed ID: 34800131
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial Early-Onset Paget's Disease of Bone Associated with a Novel hnRNPA2B1 Mutation.
    Qi X; Pang Q; Wang J; Zhao Z; Wang O; Xu L; Mao J; Jiang Y; Li M; Xing X; Yu W; Asan ; Xia W
    Calcif Tissue Int; 2017 Aug; 101(2):159-169. PubMed ID: 28389692
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.
    Gianfrancesco F; Rendina D; Merlotti D; Esposito T; Amyere M; Formicola D; Muscariello R; De Filippo G; Strazzullo P; Nuti R; Vikkula M; Gennari L
    J Bone Miner Res; 2013 Feb; 28(2):341-50. PubMed ID: 22936311
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family.
    Ke YH; Yue H; He JW; Liu YJ; Zhang ZL
    Acta Pharmacol Sin; 2009 Aug; 30(8):1204-10. PubMed ID: 19578385
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
    Divisato G; Formicola D; Esposito T; Merlotti D; Pazzaglia L; Del Fattore A; Siris E; Orcel P; Brown JP; Nuti R; Strazzullo P; Benassi MS; Cancela ML; Michou L; Rendina D; Gennari L; Gianfrancesco F
    Am J Hum Genet; 2016 Feb; 98(2):275-86. PubMed ID: 26849110
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.
    Waggoner B; Kovach MJ; Winkelman M; Cai D; Khardori R; Gelber D; Kimonis VE
    Am J Med Genet; 2002 Mar; 108(3):187-91. PubMed ID: 11891683
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.
    Kimonis VE; Kovach MJ; Waggoner B; Leal S; Salam A; Rimer L; Davis K; Khardori R; Gelber D
    Genet Med; 2000; 2(4):232-41. PubMed ID: 11252708
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation.
    Tanaka Y; Nonaka T; Suzuki G; Kametani F; Hasegawa M
    Hum Mol Genet; 2016 Apr; 25(7):1420-33. PubMed ID: 26908597
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.
    Daoud H; Dobrzeniecka S; Camu W; Meininger V; Dupré N; Dion PA; Rouleau GA
    Neurobiol Aging; 2013 Apr; 34(4):1311.e1-2. PubMed ID: 23062600
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations.
    Cundy T; Rutland MD; Naot D; Bolland M
    Clin Endocrinol (Oxf); 2015 Sep; 83(3):315-9. PubMed ID: 25664955
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A FKBP5 mutation is associated with Paget's disease of bone and enhances osteoclastogenesis.
    Lu B; Jiao Y; Wang Y; Dong J; Wei M; Cui B; Sun Y; Wang L; Zhang B; Chen Z; Zhao Y
    Exp Mol Med; 2017 May; 49(5):e336. PubMed ID: 28524179
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
    Wu CH; Fallini C; Ticozzi N; Keagle PJ; Sapp PC; Piotrowska K; Lowe P; Koppers M; McKenna-Yasek D; Baron DM; Kost JE; Gonzalez-Perez P; Fox AD; Adams J; Taroni F; Tiloca C; Leclerc AL; Chafe SC; Mangroo D; Moore MJ; Zitzewitz JA; Xu ZS; van den Berg LH; Glass JD; Siciliano G; Cirulli ET; Goldstein DB; Salachas F; Meininger V; Rossoll W; Ratti A; Gellera C; Bosco DA; Bassell GJ; Silani V; Drory VE; Brown RH; Landers JE
    Nature; 2012 Aug; 488(7412):499-503. PubMed ID: 22801503
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial Paget disease and SQSTM1 mutations in New Zealand.
    Cundy T; Naot D; Bava U; Musson D; Tong PC; Bolland M
    Calcif Tissue Int; 2011 Sep; 89(3):258-64. PubMed ID: 21735147
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Radiological features of Paget disease of bone associated with VCP myopathy.
    Farpour F; Tehranzadeh J; Donkervoort S; Smith C; Martin B; Vanjara P; Osann K; Kimonis VE
    Skeletal Radiol; 2012 Mar; 41(3):329-37. PubMed ID: 21643886
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
    Chamoux E; Couture J; Bisson M; Morissette J; Brown JP; Roux S
    Mol Endocrinol; 2009 Oct; 23(10):1668-80. PubMed ID: 19589897
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.