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Mutations In The Non-Helical Linker Segment L1-2 Of Keratin 5 In Patients With Weber-Cockayne Epidermolysis Bullosa Simplex, Yiu-Mo Chan, Qian-Chun Yu, Janine M. Leblanc-Straceski, Angela Christiano, Lena Pulkkinen, Raju S. Kucherlapati, Jouni Uitto, Elaine Fuchs
Mutations In The Non-Helical Linker Segment L1-2 Of Keratin 5 In Patients With Weber-Cockayne Epidermolysis Bullosa Simplex, Yiu-Mo Chan, Qian-Chun Yu, Janine M. Leblanc-Straceski, Angela Christiano, Lena Pulkkinen, Raju S. Kucherlapati, Jouni Uitto, Elaine Fuchs
Biology Faculty Publications
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10 nm filaments, have provided the foundation that has led to the discoveries of the genetic bases of two major classes of human skin diseases, epidermolysis bullosa simplex (EBS) and epidermolytic hyperkeratosis (EH). These diseases involve point mutations in either the basal epidermal keratin pair, K5 and K14 (EBS), or the suprabasal pair, K1 and K10 (EH). In severe cases of EBS and EH, …