|
��չ����
|
|
| ������Ϣ | |
 |
Supporting info |
|
PDFȫ�� |
|
[HTMLȫ��] |
|
����� |
| �����뷴�� | |
|
�������ù����� |
|
���� |
|
Email Alert |
|
���·��� |
|
���������Ϣ |
| ���Ĺؼ���������� | |
|
��Ƥ�ֻ������� |
|
Ƥ������ |
| ��������������� | |
|
��СӢ |
|
֣�� |
| PubMed | |
|
Article by CHEN Xiao-ying |
|
Article by ZHENG Jie |
��Ƥ�ֻ��������Ƥ����
��СӢ, ֣��
�Ϻ���ͨ��ѧҽѧԺ�������ҽԺƤ���� 200025
��Ƥ�ֻ������������һ�ʴ�״�ֲ���Ⱦɫ��1q21�ϵĻ������,�����Ƥ����ĩ�ֻ�������ء���Щ���ױ���ڽ����γ�ϸ���ĸ��㡣���ǵĻ���ͻ��,mRNA������ĸı�,���ǵ��ṹ���ܵı仯,�Ͷ��ֽǻ��쳣��Ƥ������Ƥ�������йء������ǻ���ˮƽ��ͻ�仹��mRNAˮƽ�ı仯,���ǵ��ṹ���ܵĸı䶼��һ���̶��Ͻ����˼����ķ������ơ�
Epidermal Differentiation Complex and Skin Diseases
Department of Dermatology, Ruijin Hospital Affiliated to the Medical School of Shanghai JiaoTong University, Shanghai 200025, China
Department of Dermatology, Ruijin Hospital Affiliated to the Medical School of Shanghai JiaoTong University, Shanghai 200025, China
The epidermal differentiation complex(EDC) encoded genes are a gene cluster located on human chromosome 1q21. The EDC plays an important role in terminal differentiation of the human epidermis and is expressed in each layer of the epidermis. The gene mutation, variation of mRNA level and change of structure as well as function of EDC, are all associated with many cutaneous disorders of keratinization and skin tumors, which may explain the pathogenesis of these diseases to some extent.
[2] Marshall D,Hardman MJ,Nield KM,et al.Differentially expressed late constituents of the epidermal cornified envelope.Proc Natl Acad Sci U S A,2001,98:13031-13036.
[3] Marenholz I,Zirra M,Fischer DF,et al.Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte cDNA library.Genome Res,.2001,11:341-355.
[4] Huber M,Siegenthaler G,Mirancea N,et al.Isolation and characterization of human repetin,a member of the fused gene family of the epidermal differentiation complex.J Invest Dermatol,2005,124:998-1007.
[5] Contzler R,Favre B,Huber M,et al.Cornulin,a new member of the "fused gene" family,is expressed during epidermal differentiation.J Invest Dermatol,2005,124:990-997.
[6] Wolf R,Mirmohammadsadegh A,Walz M,et al.Molecular cloning and characterization of alternatively spliced mRNA isoforms from psoriatic skin encoding a novel member of the S100 family.FASEB J,2003,17:1969-1971.
[7] Ishida-Yamamoto A.Loricrin keratoderma:a novel disease entity characterized by nuclear accumulation of mutant loricrin.J Dermatol Sci,2003,31:3-8.
[8] Takahashi H,Ishida-Yamamoto A,Kishi A,et al.Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome.J Dermatol Sci,1999,19:44-47.
[9] O'Driscoll J,Muston GC,McGrath JA,et al.A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.Clin Exp Dermatol,2002,27:243-246.
[10] Matsumoto K,Muto M,Seki S,et al.Loricrin keratoderma:a cause of congenital ichthyosiform erythroderma and collodion baby.Br J Dermatol,2001,145:657-660.
[11] Ishida-Yamamoto A,McGrath JA,Lam H,et al.The molecular pathology of progressive symmetric erythrokeratoderma:a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.Am J Hum Genet,1997,61:581-589.
[12] Suga Y,Jarnik M,Attar PS,et al.Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases,Vohwinkel syndrome and progressive symmetric erythrokeratoderma.J Cell Biol,2000,151:401-412.
[13] Schmuth M,Fluhr JW,Crumrine DC,et al.Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).J Invest Dermatol,2004,122:909-922.
[14] Schon MP,Ruzicka T.Psoriasis:the plot thickens.Nat Immunol,2001,2:91.
[15] Zheng J,Jin S,Shi R.Confirmation of PSORS psoriasis susceptibility loci in a Chinese population.Arch Dermatol Res,2003,295:14-18.
[16] Capon F,Semprini S,Chimenti S,et al.Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21.J Invest Dermatol,2001,116:728-730.
[17] Semprini S,Capon F,Bovolenta S,et al.Genomic structure,promoter characterisation and mutational analysis of the S100A7 gene:exclusion of a candidate for familial psoriasis susceptibility.Hum Genet,1999,104:130-134.
[18] Giardina E,Capon F,De Rosa MC,et al.Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.Ann Hum Genet,2004,68 (Pt 6):639-645.
[19] Sugiura H,Ebise H,Tazawa T,et al.Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope.Br J Dermatol,2005,152:146-149.
[20] Tobin DJ.Characterization of hair follicle antigens targeted by the anti-hair follicle immune response.J Investig Dermatol Symp Proc,2003,8:176-181.
[21] Ribe A,McNutt NS.S100A protein expression in the distinction between lentigo maligna and pigmented actinic keratosis.Am J Dermatopathol,2003,25:93-99.
[22] Alowami S,Qing G,Emberley E,et al.Psoriasin (S100A7) expression is altered during skin tumorigenesis.BMC Dermatol,2003,3:1.