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Journal Abstract Search

217 related items for PubMed ID: 18341575

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Updated molecular genetics and pathogenesis of ichthiyoses.
    Akiyama M.
    Nagoya J Med Sci; 2011 Aug; 73(3-4):79-90. PubMed ID: 21928690
    [Abstract] [Full Text] [Related]

  • 3. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
    Akiyama M.
    J Dermatol Sci; 2006 May; 42(2):83-9. PubMed ID: 16481150
    [Abstract] [Full Text] [Related]

  • 4. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
    Akiyama M.
    Biochim Biophys Acta; 2014 Mar; 1841(3):435-40. PubMed ID: 23954554
    [Abstract] [Full Text] [Related]

  • 5. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
    Akiyama M.
    Hum Mutat; 2010 Oct; 31(10):1090-6. PubMed ID: 20672373
    [Abstract] [Full Text] [Related]

  • 6. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
    Sugiura K, Akiyama M.
    J Dermatol Sci; 2015 Jul; 79(1):4-9. PubMed ID: 25982146
    [Abstract] [Full Text] [Related]

  • 7. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
    Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H.
    J Clin Invest; 2005 Jul; 115(7):1777-84. PubMed ID: 16007253
    [Abstract] [Full Text] [Related]

  • 8. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.
    Akiyama M.
    Arch Dermatol; 2006 Jul; 142(7):914-8. PubMed ID: 16847209
    [Abstract] [Full Text] [Related]

  • 9. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
    Shibata A, Akiyama M.
    Pediatr Int; 2015 Aug; 57(4):516-22. PubMed ID: 25857373
    [Abstract] [Full Text] [Related]

  • 10. Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.
    Scott CA, Rajpopat S, Di WL.
    Cell Tissue Res; 2013 Feb; 351(2):281-8. PubMed ID: 22864982
    [Abstract] [Full Text] [Related]

  • 11. Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis.
    Akiyama M, Yoneda K, Kim SY, Koyama H, Shimizu H.
    J Cutan Pathol; 1996 Dec; 23(6):571-5. PubMed ID: 9001990
    [Abstract] [Full Text] [Related]

  • 12. The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
    Akiyama M.
    Dermatoendocrinol; 2011 Apr; 3(2):107-12. PubMed ID: 21695020
    [Abstract] [Full Text] [Related]

  • 13. Distinguishing ichthyoses by protein profiling.
    Rice RH, Bradshaw KM, Durbin-Johnson BP, Rocke DM, Eigenheer RA, Phinney BS, Schmuth M, Gruber R.
    PLoS One; 2013 Apr; 8(10):e75355. PubMed ID: 24130705
    [Abstract] [Full Text] [Related]

  • 14. Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.
    Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, Naoe A, Kitahara T, Tanaka S, Shimizu H.
    Am J Pathol; 2010 Jul; 177(1):106-18. PubMed ID: 20489143
    [Abstract] [Full Text] [Related]

  • 15. The pathogenesis of severe congenital ichthyosis of the neonate.
    Akiyama M.
    J Dermatol Sci; 1999 Sep; 21(2):96-104. PubMed ID: 10511478
    [Abstract] [Full Text] [Related]

  • 16. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
    Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC.
    Mol Genet Genomic Med; 2019 Mar; 7(3):e539. PubMed ID: 30600594
    [Abstract] [Full Text] [Related]

  • 17. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T, Akiyama M.
    J Dermatol; 2016 Mar; 43(3):242-51. PubMed ID: 26945532
    [Abstract] [Full Text] [Related]

  • 18. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules.
    Sybert VP, Dale BA, Holbrook KA.
    J Invest Dermatol; 1985 Mar; 84(3):191-4. PubMed ID: 2579164
    [Abstract] [Full Text] [Related]

  • 19. Recent advances in the genetics and management of harlequin ichthyosis.
    Ahmed H, O'Toole EA.
    Pediatr Dermatol; 2014 Mar; 31(5):539-46. PubMed ID: 24920541
    [Abstract] [Full Text] [Related]

  • 20. Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
    Zhang L, Ferreyros M, Feng W, Hupe M, Crumrine DA, Chen J, Elias PM, Holleran WM, Niswander L, Hohl D, Williams T, Torchia EC, Roop DR.
    PLoS One; 2016 Mar; 11(8):e0161465. PubMed ID: 27551807
    [Abstract] [Full Text] [Related]

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