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Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
Frommherz L, Komlosi K, Hewel C, Kopp J, Dewenter M, Zimmer A, Bartsch O, Linke M, Technau-Hafsi K, Gerber S, Fischer J, Has C. Frommherz L, et al. Among authors: has c. J Eur Acad Dermatol Venereol. 2023 Apr;37(4):817-822. doi: 10.1111/jdv.18719. Epub 2022 Nov 17. J Eur Acad Dermatol Venereol. 2023. PMID: 36331357
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D, Valari M, Fortugno P, Hausser I, Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C. Kiritsi D, et al. Among authors: has c. J Allergy Clin Immunol. 2015 Jan;135(1):280-3. doi: 10.1016/j.jaci.2014.09.042. Epub 2014 Nov 11. J Allergy Clin Immunol. 2015. PMID: 25458912 No abstract available.
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: has c. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
297 results