国际皮肤性病学杂志    2006 32 (5): 312-314   ISSN: 2096-5540  CN: 32-1880/R   可变性红斑角皮病的分子遗传学进展 吴要群, 张学军, 杨森 安徽医科大学皮肤病研究所、安徽医科大学第一附属医院皮肤科, 合肥230022 收稿日期 2006-01-06  修回日期 null  网络版发布日期 null 参考文献  [1] Richard G,Brown N,Rouan F,et al.Genetic heterogeneity in erythrokeratodermia variabilis:novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.J Invest Dermatol,2003,120:601-609. [2] Gottfried I,Landau M,Glaser F,et al.A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.Hum Mol Genet,2002,11:1311-1136. [3] Richard G,Smith LE,Bailey RA,et al.Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.Nat Genet,1998,20:366-369. [4] Macari F,Landau M,Cousin P,et al.Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.Am J Hum Genet,2000,67:1296-1301. [5] Saba TG,Montpetit A,Verner A,et al.An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.Hum Genet,2005,116:167-171. [6] Wenzel K,Manthey D,Willecke K,et al.Human gap junction protein connexin31:molecular cloning and expression analysis.Biochem Biophys Res Commun,1998,248:910-915. [7] Xia JH,Liu CY,Tang BS,et al.Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.Nat Genet,1998,20:370-373. [8] Lopez-Bigas N,Melchionda S,Gasparini P,et al.A common frameshift mutation and other variants in GJB4 (connexin 30.3):Analysis of hearing impairment families.Hum Mutat,2002,19:458. [9] Richard G,Brown N,Smith LE,et al.The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.Hum Genet,2000,106:321-329. [10] Plum A,Winterhager E,Pesch J,et al.Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.Dev Biol,2001,231:334-347. [11] van Geel M,van Steensel MA,Steijlen PM.Connexin 30.3 (GJB4)is not required for normal skin function in humans.Br J Dermatol,2002,147:1275-1277. [12] Plantard L,Huber M,Macari F,et al.Molecular interaction ofconnexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.Hum Mol Genet,2003,12:3287-3294. [13] Morley SM,White MI,Rogers M,et al.A new,recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.Br J Dermatol,2005,152:1143-1148. [14] Di WL,Monypenny J,Common JE,et al.Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.Hum Mol Genet,2002,11:2005-2014. [15] Arita K,Akiyama M,Tsuji Y,et al.Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation:immunohistological,ultrastructural and genetic studies.Acta Derm Venereol,2003,83:266-270. [16] Terrinoni A,Leta A,Pedicelli C,et al.A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis.J Invest Dermatol,2004,122:837-839. [17] Common JE,O'Toole EA,Leigh IM,et al.Clinical and genetic heterogeneity of erythrokeratoderma variabilis.J Invest Dermatol,2005,125:920-927. [18] Rouan F,Lo CW,Fertala A,et al.Divergent effects of two sequence variants ofGJB3 (G12D and R32W) on the function of connexin 31 in vitro.Exp Dermatol,2003,12:191-197. [19] He LQ,Liu Y,Cai F,et al.Intracellular distribution,assembly and effect of disease-associated connexin 31 mutants in HeLa cells.Acta Biochim Biophys Sin (Shanghai),2005,37:547-554. 通讯作者: 张学军,emai1:ayzxj@vip.sina.com