BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 38892321)

  • 21. Alteration of conserved alternative splicing in AMELX causes enamel defects.
    Cho ES; Kim KJ; Lee KE; Lee EJ; Yun CY; Lee MJ; Shin TJ; Hyun HK; Kim YJ; Lee SH; Jung HS; Lee ZH; Kim JW
    J Dent Res; 2014 Oct; 93(10):980-7. PubMed ID: 25117480
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.
    Smith CEL; Poulter JA; Brookes SJ; Murillo G; Silva S; Brown CJ; Patel A; Hussain H; Kirkham J; Inglehearn CF; Mighell AJ
    J Dent Res; 2019 Jun; 98(6):698-704. PubMed ID: 30905256
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A nomenclature for X-linked amelogenesis imperfecta.
    Hart PS; Hart TC; Simmer JP; Wright JT
    Arch Oral Biol; 2002 Apr; 47(4):255-60. PubMed ID: 11922868
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate.
    Brookes SJ; Barron MJ; Boot-Handford R; Kirkham J; Dixon MJ
    Hum Mol Genet; 2014 May; 23(9):2468-80. PubMed ID: 24362885
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
    Nitayavardhana I; Theerapanon T; Srichomthong C; Piwluang S; Wichadakul D; Porntaveetus T; Shotelersuk V
    Mol Genet Genomics; 2020 Jul; 295(4):923-931. PubMed ID: 32246227
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).
    Masuya H; Shimizu K; Sezutsu H; Sakuraba Y; Nagano J; Shimizu A; Fujimoto N; Kawai A; Miura I; Kaneda H; Kobayashi K; Ishijima J; Maeda T; Gondo Y; Noda T; Wakana S; Shiroishi T
    Hum Mol Genet; 2005 Mar; 14(5):575-83. PubMed ID: 15649948
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
    Kim JW; Zhang H; Seymen F; Koruyucu M; Hu Y; Kang J; Kim YJ; Ikeda A; Kasimoglu Y; Bayram M; Zhang C; Kawasaki K; Bartlett JD; Saunders TL; Simmer JP; Hu JC
    Clin Genet; 2019 Mar; 95(3):375-383. PubMed ID: 30506946
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.
    Yu S; Zhang C; Zhu C; Quan J; Liu D; Wang X; Zheng S
    Oral Dis; 2022 Sep; 28(6):1610-1619. PubMed ID: 33864320
    [TBL] [Abstract][Full Text] [Related]  

  • 30. AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.
    Liang T; Hu Y; Smith CE; Richardson AS; Zhang H; Yang J; Lin B; Wang SK; Kim JW; Chun YH; Simmer JP; Hu JC
    Mol Genet Genomic Med; 2019 Sep; 7(9):e929. PubMed ID: 31402633
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta.
    Greene SR; Yuan ZA; Wright JT; Amjad H; Abrams WR; Buchanan JA; Trachtenberg DI; Gibson CW
    Arch Oral Biol; 2002 Mar; 47(3):211-7. PubMed ID: 11839357
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.
    Shemirani R; Le MH; Nakano Y
    J Dent Res; 2023 Oct; 102(11):1210-1219. PubMed ID: 37563801
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.
    Wang X; Zhao Y; Yang Y; Qin M
    PLoS One; 2015; 10(3):e0116514. PubMed ID: 25769099
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
    Brookes SJ; Barron MJ; Smith CEL; Poulter JA; Mighell AJ; Inglehearn CF; Brown CJ; Rodd H; Kirkham J; Dixon MJ
    Hum Mol Genet; 2017 May; 26(10):1863-1876. PubMed ID: 28334996
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.
    Lagerström-Fermér M; Nilsson M; Bäckman B; Salido E; Shapiro L; Pettersson U; Landegren U
    Genomics; 1995 Mar; 26(1):159-62. PubMed ID: 7782077
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.
    Zheng X; Huang W; He Z; Li Y; Li S; Song Y
    Bone; 2023 Jan; 166():116595. PubMed ID: 36272714
    [TBL] [Abstract][Full Text] [Related]  

  • 37. ENAM mutations and digenic inheritance.
    Zhang H; Hu Y; Seymen F; Koruyucu M; Kasimoglu Y; Wang SK; Wright JT; Havel MW; Zhang C; Kim JW; Simmer JP; Hu JC
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00928. PubMed ID: 31478359
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Enamel protein in smooth hypoplastic amelogenesis imperfecta.
    Wright JT; Robinson C; Kirkham J
    Pediatr Dent; 1992; 14(5):331-7. PubMed ID: 1303537
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel
    Lee Y; Zhang H; Seymen F; Kim YJ; Kasimoglu Y; Koruyucu M; Simmer JP; Hu JC; Kim JW
    J Pers Med; 2022 Jan; 12(2):. PubMed ID: 35207639
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta.
    Yang Y; Qin M; Zhao Y; Wang X
    Clin Genet; 2024 Mar; 105(3):243-253. PubMed ID: 37937686
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.