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4. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. Rugg EL; Horn HM; Smith FJ; Wilson NJ; Hill AJ; Magee GJ; Shemanko CS; Baty DU; Tidman MJ; Lane EB J Invest Dermatol; 2007 Mar; 127(3):574-80. PubMed ID: 17039244 [TBL] [Abstract][Full Text] [Related]
5. In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation. Banerjee S; Wu Q; Yu P; Qi M; Li C Mol Biosyst; 2014 Oct; 10(10):2567-77. PubMed ID: 25017986 [TBL] [Abstract][Full Text] [Related]
6. Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. Kang TW; Lee JS; Kim SE; Oh SW; Kim SC J Dermatol Sci; 2010 Feb; 57(2):90-4. PubMed ID: 20060687 [TBL] [Abstract][Full Text] [Related]
7. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. Sørensen CB; Andresen BS; Jensen UB; Jensen TG; Jensen PK; Gregersen N; Bolund L Exp Dermatol; 2003 Aug; 12(4):472-9. PubMed ID: 12930305 [TBL] [Abstract][Full Text] [Related]
8. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Arin MJ; Grimberg G; Schumann H; De Almeida H; Chang YR; Tadini G; Kohlhase J; Krieg T; Bruckner-Tuderman L; Has C Br J Dermatol; 2010 Jun; 162(6):1365-9. PubMed ID: 20199538 [TBL] [Abstract][Full Text] [Related]
9. Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness. Homberg M; Ramms L; Schwarz N; Dreissen G; Leube RE; Merkel R; Hoffmann B; Magin TM J Invest Dermatol; 2015 Oct; 135(10):2437-2445. PubMed ID: 25961909 [TBL] [Abstract][Full Text] [Related]
10. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. García M; Santiago JL; Terrón A; Hernández-Martín A; Vicente A; Fortuny C; De Lucas R; López JC; Cuadrado-Corrales N; Holguín A; Illera N; Duarte B; Sánchez-Jimeno C; Llames S; García E; Ayuso C; Martínez-Santamaría L; Castiglia D; De Luca N; Torrelo A; Mechan D; Baty D; Zambruno G; Escámez MJ; Del Río M Br J Dermatol; 2011 Sep; 165(3):683-92. PubMed ID: 21623745 [TBL] [Abstract][Full Text] [Related]
11. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Ciubotaru D; Bergman R; Baty D; Indelman M; Pfendner E; Petronius D; Moualem H; Kanaan M; Ben Amitai D; McLean WH; Uitto J; Sprecher E Arch Dermatol; 2003 Apr; 139(4):498-505. PubMed ID: 12707098 [TBL] [Abstract][Full Text] [Related]
12. Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex. Minakawa S; Nakano H; Nakajima K; Matsuzaki Y; Takiyoshi N; Akasaka E; Rokunohe D; Sawamura D J Dermatol Sci; 2013 Dec; 72(3):330-2. PubMed ID: 23993914 [No Abstract] [Full Text] [Related]
13. Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization. Rietscher K; Jahnke HG; Rübsam M; Lin EW; Has C; Omary MB; Niessen CM; Magin TM J Invest Dermatol; 2022 Dec; 142(12):3282-3293. PubMed ID: 35691363 [TBL] [Abstract][Full Text] [Related]
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17. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland. Hamada T; Kawano Y; Szczecinska W; Wozniak K; Yasumoto S; Kowalewski C; Hashimoto T Arch Dermatol Res; 2005 Jun; 296(12):577-9. PubMed ID: 15827748 [TBL] [Abstract][Full Text] [Related]