245 related articles for article (PubMed ID: 18802465)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
Thomas AC; Tattersall D; Norgett EE; O'Toole EA; Kelsell DP
Am J Pathol; 2009 Mar; 174(3):970-8. PubMed ID: 19179616
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Topical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis.
Cottle DL; Ursino GMA; Jones LK; Tham MS; Zylberberg AK; Smyth IM
Cell Rep Med; 2020 Nov; 1(8):100129. PubMed ID: 33294854
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
Li Q; Frank M; Akiyama M; Shimizu H; Ho SY; Thisse C; Thisse B; Sprecher E; Uitto J
Dis Model Mech; 2011 Nov; 4(6):777-85. PubMed ID: 21816950
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
Cottle DL; Ursino GM; Ip SC; Jones LK; Ditommaso T; Hacking DF; Mangan NE; Mellett NA; Henley KJ; Sviridov D; Nold-Petry CA; Nold MF; Meikle PJ; Kile BT; Smyth IM
Hum Mol Genet; 2015 Jan; 24(2):436-49. PubMed ID: 25209981
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. PPAR and LXR activators regulate ABCA12 expression in human keratinocytes.
Jiang YJ; Lu B; Kim P; Paragh G; Schmitz G; Elias PM; Feingold KR
J Invest Dermatol; 2008 Jan; 128(1):104-9. PubMed ID: 17611579
[TBL] [Abstract][Full Text] [Related]
20. ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation.
Mitsutake S; Suzuki C; Akiyama M; Tsuji K; Yanagi T; Shimizu H; Igarashi Y
J Dermatol Sci; 2010 Nov; 60(2):128-9. PubMed ID: 20869849
[No Abstract] [Full Text] [Related]
[Next] [New Search]
