BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

250 related articles for article (PubMed ID: 22864982)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 11(8):e0161465. PubMed ID: 27551807
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ABCA12 is the major harlequin ichthyosis gene.
    Thomas AC; Cullup T; Norgett EE; Hill T; Barton S; Dale BA; Sprecher E; Sheridan E; Taylor AE; Wilroy RS; DeLozier C; Burrows N; Goodyear H; Fleckman P; Stephens KG; Mehta L; Watson RM; Graham R; Wolf R; Slavotinek A; Martin M; Bourn D; Mein CA; O'Toole EA; Kelsell DP
    J Invest Dermatol; 2006 Nov; 126(11):2408-13. PubMed ID: 16902423
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
    Akiyama M; Sakai K; Sugiyama-Nakagiri Y; Yamanaka Y; McMillan JR; Sawamura D; Niizeki H; Miyagawa S; Shimizu H
    J Invest Dermatol; 2006 Jul; 126(7):1518-23. PubMed ID: 16675967
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
    Yanagi T; Akiyama M; Nishihara H; Sakai K; Nishie W; Tanaka S; Shimizu H
    Hum Mol Genet; 2008 Oct; 17(19):3075-83. PubMed ID: 18632686
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
    Nawaz S; Tariq M; Ahmad I; Malik NA; Baig SM; Dahl N; Klar J
    Eur J Dermatol; 2012; 22(2):178-81. PubMed ID: 22257947
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
    Smyth I; Hacking DF; Hilton AA; Mukhamedova N; Meikle PJ; Ellis S; Satterley K; Collinge JE; de Graaf CA; Bahlo M; Sviridov D; Kile BT; Hilton DJ
    PLoS Genet; 2008 Sep; 4(9):e1000192. PubMed ID: 18802465
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.
    Wang X; Cao C; Li Y; Hai T; Jia Q; Zhang Y; Zheng Q; Yao J; Qin G; Zhang H; Song R; Wang Y; Shui G; Lam SM; Liu Z; Wei H; Meng A; Zhou Q; Zhao J
    J Mol Cell Biol; 2019 Dec; 11(12):1029-1041. PubMed ID: 30925591
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
    Kelsell DP; Norgett EE; Unsworth H; Teh MT; Cullup T; Mein CA; Dopping-Hepenstal PJ; Dale BA; Tadini G; Fleckman P; Stephens KG; Sybert VP; Mallory SB; North BV; Witt DR; Sprecher E; Taylor AE; Ilchyshyn A; Kennedy CT; Goodyear H; Moss C; Paige D; Harper JI; Young BD; Leigh IM; Eady RA; O'Toole EA
    Am J Hum Genet; 2005 May; 76(5):794-803. PubMed ID: 15756637
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Harlequin ichthyosis unmasked: a defect of lipid transport.
    Hovnanian A
    J Clin Invest; 2005 Jul; 115(7):1708-10. PubMed ID: 16007249
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygous mutations with novel missense
    Loo BKG; Batilando MJ; Tan EC; Koh MJA
    BMJ Case Rep; 2018 Jan; 2018():. PubMed ID: 29298786
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
    Montalván-Suárez M; Esperón-Moldes US; Rodríguez-Pazos L; Ordóñez-Ugalde A; Moscoso F; Ugalde-Noritz N; Santomé L; Fachal L; Tettamanti-Miranda D; Ruiz JC; Ginarte M; Vega A
    Mol Genet Genomic Med; 2019 May; 7(5):e608. PubMed ID: 30916489
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.
    Follmann J; Macchiella D; Whybra C; Mildenberger E; Poarangan C; Zechner U; Bartsch O
    Gene; 2013 Dec; 531(2):510-3. PubMed ID: 24055722
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel ABCA-12 mutations leading to recessive congenital ichthyosis.
    Peterson H; Lofgren S; Bremmer S; Krol A
    Pediatr Dermatol; 2013; 30(6):e236-7. PubMed ID: 22299640
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
    Yamanaka Y; Akiyama M; Sugiyama-Nakagiri Y; Sakai K; Goto M; McMillan JR; Ota M; Sawamura D; Shimizu H
    Am J Pathol; 2007 Jul; 171(1):43-52. PubMed ID: 17591952
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.