C-type lectins and human epithelial membrane protein1:Are they new proteins in keratin disorders?

作     者：Nilufer Karadeniz Thomas Liehr Kristin Mrasek Ibrahim Asik Zuleyha Asik Nadezda Kosyakova Hasmik Mkrtchyan 

作者机构：Medical Genetics of Zubeyde Hanim Maternity HospitalAnkaraTurkey Jena University HospitalInstitute of Human GeneticsKollegiengasseJenaGermany Department of Anaesthesiology and Intensive CareFaculty of MedicineUniversity of AnkaraAnkaraTurkey Dermatology of Dr Sami Ulus Children’s HospitalAnkaraTurkey 

出 版 物：《Open Journal of Genetics》 (遗传学期刊（英文）)

年 卷 期：2013年第3卷第4期

页      面：262-269页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Keratins Palmoplantar Keratoderma Pachyonychia Congenital Tarda Lectins Epithelial Membrane Protein1 Gene Expression and Chromosome Translocation 

摘      要：Here we report a family with a clinical spectrum of Pachyonychia Congenita Tarda (PCT) encompassing two generations via a balanced chromosomal translocation between 4q26 and 12p12.3. We discuss the effects of chromosomal translocations on gene expression through involved breakpoints and structural gene abnormalities detected by array CGH. We believe that the family we present gives further insight to the better understanding of molecular and structural basis of keratin disorders, and to the late onset and genetic basis of PCT through the possible role of C-type lectins and human epithelial membrane protein1 (EMP1). Better understanding of the molecular basis of keratin disorders is the foundation for improved diagnosis, genetic counseling and novel therapeutic approaches to overcome the current treatment limitations related to this disease.