Citations for
1ABCA12, PPARD
Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytes.
Jiang YJ, Uchida Y, Lu B, Kim P, Mao C, Akiyama M, Elias PM, Holleran WM, Grunfeld C, Feingold KR.
J Biol Chem 284(28):18942-52. Epub 2009 May 8. 2009
2ABCA12, NCIE4
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.
Sakai K, Akiyama M, Yanagi T, McMillan JR, Suzuki T, Tsukamoto K, Sugiyama H, Hatano Y, Hayashitani M, Takamori K, Nakashima K, Shimizu H.
J Invest Dermatol 129(9):2306-9. Epub 2009 Mar 5. No abstract available. 2009
3ABCA12, HFCI
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 174(3):970-8. Epub 2009 Jan 29. 2009
4ABCA12, HFCI
ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.
Zuo Y, Zhuang DZ, Han R, Isaac G, Tobin JJ, McKee M, Welti R, Brissette JL, Fitzgerald ML, Freeman MW.
J Biol Chem 283(52):36624-35. Epub 2008 Oct 27. 2008
5ABCA12, HFCI
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP.
Br J Dermatol 158(3):611-3. Epub 2007 Nov 6. No abstract available. 2008
6ABCA12, HFCI
Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.
Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H.
Exp Dermatol 16(11):920-6. 2007
7ABCA12, NCIE4
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, Hata H, Abe M, Arita K, Tsuji-Abe Y, Onozuka T, Aoyagi S, Kodama K, Ujiie H, Tomita Y, Shimizu H.
J Invest Dermatol 127(11):2669-73. Epub 2007 May 17. No abstract available. 2007
8ABCA12, HFCI
A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.
Rajpar SF, Cullup T, Kelsell DP, Moss C.
Br J Dermatol 155(1):204-6. No abstract available. 2006
9ABCA12, HFC1
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 126(7):1518-23. Epub 2006 May 4. 2006
10ABCA12, HFCI
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 76(5):794-803. Epub 2005 Mar 8. 2005
11ABCA12, HFCI
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 115(7):1777-84. 2005
12ABCA12, ARCI4A
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J.
Hum Mol Genet 12(18):2369-78. Epub 2003 Jul 15. 2003
13ABCA12
Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34
Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M.
Cytogenet Genome Res 98(2-3):169-76. 2002
14ABCA10, ABCA12, ABCA13, ABCA8, ABCA9, ABCF3, ABCG4
The human ATP-binding cassette (ABC) transporter superfamily.
Dean M, Rzhetsky A, Allikmets R.
Genome Res 11(7):1156-66. Review. 2001