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Results: 1 to 20 of 42

References for PMC Articles for PubMed (Select 18957418)

1.

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 1;17(19):3075-83. doi: 10.1093/hmg/ddn204. Epub 2008 Jul 15.

2.

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.

Akiyama M, Sakai K, Hatamochi A, Yamazaki S, McMillan JR, Shimizu H.

Br J Dermatol. 2008 Apr;158(4):864-7. doi: 10.1111/j.1365-2133.2008.08439.x. Epub 2008 Feb 16. No abstract available.

PMID:
18284401
3.

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M.

J Lipid Res. 2008 Apr;49(4):697-714. doi: 10.1194/jlr.R800002-JLR200. Epub 2008 Feb 2. Review.

4.

Dedicated epithelial recipient cells determine pigmentation patterns.

Weiner L, Han R, Scicchitano BM, Li J, Hasegawa K, Grossi M, Lee D, Brissette JL.

Cell. 2007 Sep 7;130(5):932-42.

5.

Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.

Hammel M, Michel G, Hoefer C, Klaften M, Müller-Höcker J, de Angelis MH, Holzinger A.

Biochem Biophys Res Commun. 2007 Aug 10;359(4):947-51. Epub 2007 Jun 11.

PMID:
17577581
6.

ABCA3 is critical for lamellar body biogenesis in vivo.

Cheong N, Zhang H, Madesh M, Zhao M, Yu K, Dodia C, Fisher AB, Savani RC, Shuman H.

J Biol Chem. 2007 Aug 17;282(33):23811-7. Epub 2007 May 31.

7.

12R-lipoxygenase deficiency disrupts epidermal barrier function.

Epp N, Fürstenberger G, Müller K, de Juanes S, Leitges M, Hausser I, Thieme F, Liebisch G, Schmitz G, Krieg P.

J Cell Biol. 2007 Apr 9;177(1):173-82. Epub 2007 Apr 2.

8.

ABCA3 as a lipid transporter in pulmonary surfactant biogenesis.

Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N.

J Biol Chem. 2007 Mar 30;282(13):9628-34. Epub 2007 Jan 30.

9.

Integrity and barrier function of the epidermis critically depend on glucosylceramide synthesis.

Jennemann R, Sandhoff R, Langbein L, Kaden S, Rothermel U, Gallala H, Sandhoff K, Wiegandt H, Gröne HJ.

J Biol Chem. 2007 Feb 2;282(5):3083-94. Epub 2006 Dec 4.

10.

ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol.

Fitzgerald ML, Xavier R, Haley KJ, Welti R, Goss JL, Brown CE, Zhuang DZ, Bell SA, Lu N, McKee M, Seed B, Freeman MW.

J Lipid Res. 2007 Mar;48(3):621-32. Epub 2006 Dec 1.

11.

Blimp1 defines a progenitor population that governs cellular input to the sebaceous gland.

Horsley V, O'Carroll D, Tooze R, Ohinata Y, Saitou M, Obukhanych T, Nussenzweig M, Tarakhovsky A, Fuchs E.

Cell. 2006 Aug 11;126(3):597-609.

12.

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.

Rajpar SF, Cullup T, Kelsell DP, Moss C.

Br J Dermatol. 2006 Jul;155(1):204-6. No abstract available.

PMID:
16792777
13.

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G.

Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80. Epub 2006 May 25.

PMID:
16728712
14.
15.

Loss of receptor-mediated lipid uptake via scavenger receptor A or CD36 pathways does not ameliorate atherosclerosis in hyperlipidemic mice.

Moore KJ, Kunjathoor VV, Koehn SL, Manning JJ, Tseng AA, Silver JM, McKee M, Freeman MW.

J Clin Invest. 2005 Aug;115(8):2192-201.

16.

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.

17.

ABCA3 mutations associated with pediatric interstitial lung disease.

Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM.

Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31. Epub 2005 Jun 23.

18.

A homolog of Drosophila grainy head is essential for epidermal integrity in mice.

Ting SB, Caddy J, Hislop N, Wilanowski T, Auden A, Zhao LL, Ellis S, Kaur P, Uchida Y, Holleran WM, Elias PM, Cunningham JM, Jane SM.

Science. 2005 Apr 15;308(5720):411-3.

19.

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. Epub 2005 Mar 8.

20.

Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels.

Kim WS, Fitzgerald ML, Kang K, Okuhira K, Bell SA, Manning JJ, Koehn SL, Lu N, Moore KJ, Freeman MW.

J Biol Chem. 2005 Feb 4;280(5):3989-95. Epub 2004 Nov 17.

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