BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

368 related articles for article (PubMed ID: 19853237)

  • 1. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
    El-Sayed W; Parry DA; Shore RC; Ahmed M; Jafri H; Rashid Y; Al-Bahlani S; Al Harasi S; Kirkham J; Inglehearn CF; Mighell AJ
    Am J Hum Genet; 2009 Nov; 85(5):699-705. PubMed ID: 19853237
    [TBL] [Abstract][Full Text] [Related]  

  • 2. WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
    Katsura KA; Horst JA; Chandra D; Le TQ; Nakano Y; Zhang Y; Horst OV; Zhu L; Le MH; DenBesten PK
    Matrix Biol; 2014 Sep; 38():48-58. PubMed ID: 25008349
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
    El-Sayed W; Shore RC; Parry DA; Inglehearn CF; Mighell AJ
    Cells Tissues Organs; 2011; 194(1):60-6. PubMed ID: 21196691
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.
    Seymen F; Park JC; Lee KE; Lee HK; Lee DS; Koruyucu M; Gencay K; Bayram M; Tuna EB; Lee ZH; Kim YJ; Kim JW
    J Dent Res; 2015 Aug; 94(8):1063-9. PubMed ID: 26124219
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.
    Husein D; Alamoudi A; Ohyama Y; Mochida H; Ritter B; Mochida Y
    Sci Rep; 2022 Mar; 12(1):4640. PubMed ID: 35301423
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
    Wang SK; Choi M; Richardson AS; Reid BM; Lin BP; Wang SJ; Kim JW; Simmer JP; Hu JC
    Hum Mol Genet; 2014 Apr; 23(8):2157-63. PubMed ID: 24305999
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.
    Hentschel J; Tatun D; Parkhomchuk D; Kurth I; Schimmel B; Heinrich-Weltzien R; Bertzbach S; Peters H; Beetz C
    Gene; 2016 Sep; 590(1):1-4. PubMed ID: 27259663
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Wang YL; Lin HC; Liang T; Lin JC; Simmer JP; Hu JC; Wang SK
    J Dent Res; 2024 Jun; 103(6):662-671. PubMed ID: 38716742
    [TBL] [Abstract][Full Text] [Related]  

  • 9. WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
    Zhang H; Koruyucu M; Seymen F; Kasimoglu Y; Kim JW; Tinawi S; Zhang C; Jacquemont ML; Vieira AR; Simmer JP; Hu JCC
    J Dent Res; 2019 May; 98(5):541-548. PubMed ID: 30779877
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation.
    Wang SK; Hu Y; Yang J; Smith CE; Nunez SM; Richardson AS; Pal S; Samann AC; Hu JC; Simmer JP
    Mol Genet Genomic Med; 2015 Jul; 3(4):302-19. PubMed ID: 26247047
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel WDR72 mutation and cytoplasmic localization.
    Lee SK; Seymen F; Lee KE; Kang HY; Yildirim M; Tuna EB; Gencay K; Hwang YH; Nam KH; De La Garza RJ; Hu JC; Simmer JP; Kim JW
    J Dent Res; 2010 Dec; 89(12):1378-82. PubMed ID: 20938048
    [TBL] [Abstract][Full Text] [Related]  

  • 12. WDR72 regulates vesicle trafficking in ameloblasts.
    Katsura K; Nakano Y; Zhang Y; Shemirani R; Li W; Den Besten P
    Sci Rep; 2022 Feb; 12(1):2820. PubMed ID: 35181734
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Enamel ultrastructure in pigmented hypomaturation amelogenesis imperfecta.
    Wright JT; Lord V; Robinson C; Shore R
    J Oral Pathol Med; 1992 Oct; 21(9):390-4. PubMed ID: 1432732
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
    O'Sullivan J; Bitu CC; Daly SB; Urquhart JE; Barron MJ; Bhaskar SS; Martelli-Júnior H; dos Santos Neto PE; Mansilla MA; Murray JC; Coletta RD; Black GC; Dixon MJ
    Am J Hum Genet; 2011 May; 88(5):616-20. PubMed ID: 21549343
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
    Khan SA; Khan MA; Muhammad N; Bashir H; Khan N; Muhammad N; Yilmaz R; Khan S; Wasif N
    BMC Med Genet; 2020 May; 21(1):97. PubMed ID: 32380970
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
    Poulter JA; Brookes SJ; Shore RC; Smith CE; Abi Farraj L; Kirkham J; Inglehearn CF; Mighell AJ
    Hum Mol Genet; 2014 Apr; 23(8):2189-97. PubMed ID: 24319098
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
    Seymen F; Kim YJ; Lee YJ; Kang J; Kim TH; Choi H; Koruyucu M; Kasimoglu Y; Tuna EB; Gencay K; Shin TJ; Hyun HK; Kim YJ; Lee SH; Lee ZH; Zhang H; Hu JC; Simmer JP; Cho ES; Kim JW
    Am J Hum Genet; 2016 Nov; 99(5):1199-1205. PubMed ID: 27843125
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta.
    Seymen F; Lee KE; Tran Le CG; Yildirim M; Gencay K; Lee ZH; Kim JW
    J Dent Res; 2014 Apr; 93(4):366-70. PubMed ID: 24532815
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
    Nikolopoulos G; Smith CEL; Poulter JA; Murillo G; Silva S; Lamb T; Berry IR; Brown CJ; Day PF; Soldani F; Al-Bahlani S; Harris SA; O'Connell MJ; Inglehearn CF; Mighell AJ
    Hum Mutat; 2021 May; 42(5):567-576. PubMed ID: 33600052
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
    Kuechler A; Hentschel J; Kurth I; Stephan B; Prott EC; Schweiger B; Schuster A; Wieczorek D; Lüdecke HJ
    Mol Syndromol; 2012 Nov; 3(5):223-9. PubMed ID: 23293580
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.