ABCMdb

PMID: 17591952

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

Sentences

No. Mutations Sentence Comment

51 ABCA12 p.Ser387Asn One patient harbored a homozygous splice site mutation c.3295-2AϾG and the other harbored heterozygous mutations: p.Ser387Asn and c.4158_4160del (p.Thr1387del) as previously reported.36 In detail, patients` keratinocytes were isolated from lesional epidermis after separation from the dermis by overnight treatment of dispase I (Godoshusei, Chiba, Japan). Login to comment 60 ABCA12 p.Ser387Asn Thus, with the same methods, we reconstituted HI lesions using keratinocytes from another patient with HI who had heterozygous mutations affecting both ABCA12 alleles, p.Ser387Asn and c.4158_4160del (p.Thr1387del) (see Ref. 37 for further detailed analysis of the reconstituted lesions). Login to comment 61 ABCA12 p.Ser387Asn Thus, with the same methods, we reconstituted HI lesions using keratinocytes from another patient with HI who had heterozygous mutations affecting both ABCA12 alleles, p.Ser387Asn and c.4158_4160del (p.Thr1387del) (see Ref. 37 for further detailed analysis of the reconstituted lesions). Login to comment 127 ABCA12 p.Ser387Asn We regenerated HI skin lesions using cultured keratinocytes harboring ABCA12 mutations p.Ser387Asn and c.4158_4160del (p.Thr1387del) and normal human fibroblasts. Login to comment 128 ABCA12 p.Ser387Asn We regenerated HI skin lesions using cultured keratinocytes harboring ABCA12 mutations p.Ser387Asn and c.4158_4160del (p.Thr1387del) and normal human fibroblasts. Login to comment