A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

被引：15

作者：

Akiyama, M.

Sakai, K.

Wolff, G.

Hausser, I.

McMillan, J. R.

Sawamura, D.

Shimizu, H.

机构：

[1] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Univ Freiburg, Inst Humangenet & Anthropol, Freiburg, Germany

[3] Univ Clin Heidelberg, Dept Dermatol, Heidelberg, Germany

[4] Hokkaido Univ, Creat Res Inst Sousei, Sapporo, Hokkaido, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 05期

关键词：

ABCA12; mutation; ATP-binding cassette transporter; harlequin ichthyosis; lipid transporter; retinoid; truncation;

D O I：

10.1111/j.1365-2133.2006.07434.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：1064 / 1066

页数：3

共 15 条

[1]

Akiyama M, 1998, PRENATAL DIAG, V18, P425, DOI 10.1002/(SICI)1097-0223(199805)18:5<425::AID-PD284>3.0.CO

[2]

2-B

[3] Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer [J].

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 .

JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (07) :1777-1784

[4]

AKIYAMA M, IN PRESS ARCH DERMAT

[5] Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity [J].

Akiyama, Masashi ;

Sakai, Kaori ;

Sugiyama-Nakagiri, Yoriko ;

Yamanaka, Yasuko ;

McMillan, James R. ;

Sawamura, Daisuke ;

Niizeki, Hironori ;

Miyagawa, Sachiko ;

Shimizu, Hiroshi .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (07) :1518-1523

[6] Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms [J].

Akiyama, Masashi .

JOURNAL OF DERMATOLOGICAL SCIENCE, 2006, 42 (02) :83-89

[7] Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34 [J].

Annilo, T ;

Shulenin, S ;

Chen, ZQ ;

Arnould, I ;

Prades, C ;

Lemoine, C ;

Maintoux-Larois, C ;

Devaud, C ;

Dean, M ;

Denèfle, P ;

Rosier, M .

CYTOGENETIC AND GENOME RESEARCH, 2002, 98 (2-3) :169-176

[8] Mammalian ABC transporters in health and disease [J].

Borst, P ;

Elferink, RO .

ANNUAL REVIEW OF BIOCHEMISTRY, 2002, 71 :537-592

[9] Origin of the corneocyte lipid envelope (CLE): Observations in Harlequin ichthyosis and cultured human keratinocytes [J].

Elias, PM ;

Fartasch, M ;

Crumrine, D ;

Behne, M ;

Uchida, Y ;

Holleran, WM .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 115 (04) :765-769

[10]

Kelsell DP, 2005, AM J HUM GENET, V76, P794

← 1 2 →