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KLHL16 Degrades Epidermal Keratins.
Büchau F, Munz C, Has C, Lehmann R, Magin TM. Büchau F, et al. Among authors: has c. J Invest Dermatol. 2018 Aug;138(8):1871-1873. doi: 10.1016/j.jid.2018.02.017. Epub 2018 Feb 23. J Invest Dermatol. 2018. PMID: 29481904 Free article. No abstract available.
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Has C, et al. J Invest Dermatol. 2006 Aug;126(8):1776-83. doi: 10.1038/sj.jid.5700339. Epub 2006 May 4. J Invest Dermatol. 2006. PMID: 16675959 Free article.
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C. Pigors M, et al. Among authors: has c. J Invest Dermatol. 2012 Oct;132(10):2422-2429. doi: 10.1038/jid.2012.166. Epub 2012 May 24. J Invest Dermatol. 2012. PMID: 22622422 Free article.
The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L. Has C, et al. J Invest Dermatol. 2014 Mar;134(3):845-849. doi: 10.1038/jid.2013.367. Epub 2013 Sep 4. J Invest Dermatol. 2014. PMID: 24005051 Free article. No abstract available.
295 results