A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

被引：38

作者：

Rafiq, MA

Ansar, M

Mahmood, S

Haque, S

Faiyaz-ul-Haque, M

Leal, SM

Ahmad, W ^{[1
]}

机构：

[1] Quaid I Azam Univ, Dept Biol Sci, Islamabad, Pakistan

[2] Hosp Sick Children, Dept Genet, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2004年 / 123卷 / 01期

关键词：

D O I：

10.1111/j.0022-202X.2004.22715.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：247 / 248

页数：2

共 14 条

[1] CHARACTERIZATION OF PEMPHIGUS FOLIACEUS ANTIGEN FROM HUMAN EPIDERMIS [J].

CALVANICO, NJ ;

MARTINS, CR ;

DIAZ, LA .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1991, 96 (06) :815-821

[2] The structural and functional analysis of cadherin calcium-dependent cell adhesion molecules [J].

Grunwald, Gerald B. .

CURRENT OPINION IN CELL BIOLOGY, 1993, 5 (05) :797-805

[3] Human desmocollin 1 (Dsc1) is an autoantigen for the subcorneal pustular dermatosis type of IgA pemphigus [J].

Hashimoto, T ;

Kiyokawa, C ;

Mori, O ;

Miyasato, M ;

Chidgey, MAJ ;

Garrod, DR ;

Kobayashi, Y ;

Komori, K ;

Ishii, K ;

Amagai, M ;

Nishikawa, T .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (02) :127-131

[4] PEMPHIGUS-VULGARIS ANTIGEN IS A DESMOSOMAL DESMOGLEIN [J].

KARPATI, S ;

AMAGAI, M ;

PRUSSICK, R ;

STANLEY, JR .

DERMATOLOGY, 1994, 189 :24-26

[5] Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris [J].

Kljuic, A ;

Bazzi, H ;

Sundberg, JP ;

Martinez-Mir, A ;

O'Shaughnessy, R ;

Mahoney, MG ;

Levy, M ;

Montagutelli, X ;

Ahmad, W ;

Alta, VM ;

Gordon, D ;

Uitto, J ;

Whiting, D ;

Ott, J ;

Fischer, S ;

Gilliam, TC ;

Jahoda, CAB ;

Morris, RJ ;

Panteleyev, AA ;

Nguyen, VT ;

Christiano, AM .

CELL, 2003, 113 (02) :249-260

[6] A novel mouse desmosomal cadherin family member, desmoglein 1γ [J].

Kljuic, A ;

Christiano, AM .

EXPERIMENTAL DERMATOLOGY, 2003, 12 (01) :20-29

[7] Lanceolate hair (lah): A recessive mouse mutation with alopecia and abnormal hair [J].

Montagutelli, X ;

Hogan, ME ;

Aubin, G ;

Lalouette, A ;

Guenet, JL ;

King, LE ;

Sundberg, JP .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (01) :20-25

[8] Novel member of the mouse desmoglein gene family:: Dsg1-β [J].

Pulkkinen, L ;

Choi, YW ;

Kljuic, A ;

Uitto, J ;

Mahoney, MG .

EXPERIMENTAL DERMATOLOGY, 2003, 12 (01) :11-19

[9] A locus for hereditary hypotrichosis localized to human chromosome 18q21.1 [J].

Rafique, MA ;

Ansar, M ;

Jamal, SM ;

Malik, S ;

Sohail, M ;

Faiyaz-Ul-Haque, M ;

Haque, S ;

Leal, SM ;

Ahmad, W .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (08) :623-628

[10] Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin - Characterization of the promoter region and identification of a keratinocyte-specific cis-element [J].

Silos, SA ;

Tamai, K ;

Li, KH ;

Kivirikko, S ;

Kouba, D ;

Christiano, AM ;

Uitto, J .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (29) :17504-17511

← 1 2 →