Connexin disorders of the skin

被引：69

作者：

Richard, G ^{[1
]}

机构：

[1] Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

[2] Jefferson Med Coll, Jefferson Inst Mol Med, Philadelphia, PA 19107 USA

来源：

CLINICS IN DERMATOLOGY | 2005年 / 23卷 / 01期

关键词：

D O I：

10.1016/j.clindermatol.2004.09.010

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Over the past decade, the molecular basis of most disorders of cornification has been unveiled. Among these, a distinct group has emerged because of primary defects in cell-cell communication due to faulty gap junction proteins also known as connexins. This review aims to delineate the cutaneous connexin disorders and to highlight intriguing genotype-phenotype correlations and emanating clinical implications. (c) 2005 Elsevier Inc. All rights reserved.

引用

页码：23 / 32

页数：10

共 98 条

[1] De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome [J].

Alvarez, A ;

del Castillo, I ;

Pera, A ;

Villamar, M ;

Moreno-Pelayo, MA ;

Moreno, F ;

Moreno, R ;

Tapia, MC .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 117A (01) :89-91

[2] KNUCKLE PADS LEUKONYCHIA AND DEAFNESS - A DOMIANTLY INHERITED SYNDROME [J].

BART, RS ;

PUMPHREY, RE .

NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (04) :202-&

[3] A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness [J].

Brown, CW ;

Levy, ML ;

Flaitz, CM ;

Reid, BS ;

Manolidis, S ;

Hebert, AA ;

Bender, MM ;

Heilstedt, HA ;

Plunkett, KS ;

Fang, P ;

Roa, BB ;

Chung, P ;

Tang, HY ;

Richard, G ;

Alford, RL .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (05) :1221-1223

[4] ERYTHROKERATODERMIA VARIABILIS - REPORT OF 3 CASES AND REVIEW OF LITERATURE [J].

BROWN, J ;

KIERLAND, RR .

ARCHIVES OF DERMATOLOGY, 1966, 93 (02) :194-+

[5]

CaceresRios H, 1996, PEDIATR DERMATOL, V13, P105

[6] VARIANT OF KERATODERMA HEREDITARIA MUTILANS (VOHWINKELS SYNDROME) - TREATMENT WITH ORALLY-ADMINISTERED ISOTRETINOIN [J].

CAMISA, C ;

ROSSANA, C .

ARCHIVES OF DERMATOLOGY, 1984, 120 (10) :1323-1328

[7]

Clouston HR, 1929, CAN MED ASSOC J, V21, P18

[8] Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death [J].

Cohen-Salmon, M ;

Ott, T ;

Michel, V ;

Hardelin, JP ;

Perfettini, I ;

Eybalin, M ;

Wu, T ;

Marcus, DC ;

Wangemann, P ;

Willecke, K ;

Petit, C .

CURRENT BIOLOGY, 2002, 12 (13) :1106-1111

[9] Functional studies of human skin disease- and deafness-associated connexin 30 mutations [J].

Common, JEA ;

Becker, D ;

Di, WL ;

Leigh, IM ;

O'Toole, EA ;

Kelsell, DP .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2002, 298 (05) :651-656

[10]

DACOSTA SM, 1925, ACTA DERM-VENEREOL, V6, P255

← 1 2 3 4 5 6 7 8 9 10 →