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Biologics in congenital ichthyosis: are they effective?
Mazereeuw-Hautier J, Granier Tournier C, Hernandez-Martin A, Milesi S, Texier H, Severino-Freire M, Bellon N, Bodemer C, Gruber R, Mahé E, Morice Picard F, Hannula-Jouppi K, Murase JE, Barbarot S, Cohen-Barak E, Torres-Pradilla M, Bruckner A, Levy M, Koh MJA, Masson Regnault M, Rossel V, Chiaverini C, Arkin LM, Ott H, Has C, Süβmuth K, Gostynski A, Shourick J, Paller AS. Mazereeuw-Hautier J, et al. Among authors: has c. Br J Dermatol. 2024 Oct 29:ljae420. doi: 10.1093/bjd/ljae420. Online ahead of print. Br J Dermatol. 2024. PMID: 39470394
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C. Kern JS, et al. Among authors: has c. Br J Dermatol. 2009 Nov;161(5):1089-97. doi: 10.1111/j.1365-2133.2009.09333.x. Epub 2009 Jun 5. Br J Dermatol. 2009. PMID: 19681861
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
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.
Schwieger-Briel A, Fuentes I, Castiglia D, Barbato A, Greutmann M, Leppert J, Duchatelet S, Hovnanian A, Burattini S, Yubero MJ, Ibañez-Arenas R, Rebolledo-Jaramillo B, Gräni C, Ott H, Theiler M, Weibel L, Paller AS, Zambruno G, Fischer J, Palisson F, Has C. Schwieger-Briel A, et al. Among authors: has c. J Invest Dermatol. 2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16. J Invest Dermatol. 2019. PMID: 30120936 Free article. No abstract available.
312 results