Yilmaz P, Marek SJ, Valari M, He Y, and Has C. Characterization of amino acid substitutions and deletions in Kindlin-1 FERM domain: Relevance for precision medicine. The Journal of investigative dermatology 2022. doi: 10.1016/j.jid.2022.01.032.
Baradaran-Heravi A, Balgi AD, Hosseini-Farahabadi S, Choi K, Has C, and Roberge M. Effect of small molecule eRF3 degraders on premature termination codon readthrough. Nucleic Acids Research 2021;49:3692–3708.
Reimer A, Hess M, Schwieger-Briel A, Kiritsi D, Schauer F, Schumann H, Bruckner-Tuderman L, and Has C. Natural history of growth and anaemia in children with epidermolysis bullosa: A retrospective cohort study. British Journal of Dermatology 2020;182:1437–1448.
Kroeger J, Hoppe E, Galiger C, Has C, and Franzke CW. Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring. Matrix Biology 2019;80:72–84.
He Y, Thriene K, Boerries M, Hausser I, Franzke CW, Busch H, Dengjel J, and Has C. Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes. Matrix Biology 2018;74:62–76.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, HannulaJouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, and Has C. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. American Journal of Human Genetics 2016;99:1395–1404.
Maier K, He Y, Wölfle U, Esser PR, Brummer T, Schempp C, Bruckner-Tuderman L, and Has C. UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome. Human Molecular Genetics 2016;25:5339–5352.
Has C, Spartà G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub B, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, and Laube G. Integrin a3 mutations with kidney, lung and skin disease. New England Journal of Medicine 2012;366:1508–1514.
Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, Jonkman MF, Bruckner-Tuderman L, and Has C. Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. Journal of Clinical Investigation 2012;122:1742–1746.
Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, and Has C. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity. Human Molecular Genetics 2011;20:1811–1819.
Institute of Medical Biometry and Statistics,
Faculty of Medicine and Medical Center –
University of Freiburg
