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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Among authors: bolling mc. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
The C4EB study-Transvamix (10% THC / 5% CBD) to treat chronic pain in epidermolysis bullosa: A protocol for an explorative randomized, placebo controlled, and double blind intervention crossover study.
Schräder NHB, Duipmans JC, Renken RJ, Sörös P, Vermeulen KM, Bolling MC, Wolff AP. Schräder NHB, et al. Among authors: bolling mc. PLoS One. 2022 Dec 12;17(12):e0277512. doi: 10.1371/journal.pone.0277512. eCollection 2022. PLoS One. 2022. PMID: 36508401 Free PMC article.
Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.
Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF. Bolling MC, et al. J Invest Dermatol. 2018 Aug;138(8):1881-1884. doi: 10.1016/j.jid.2018.01.038. Epub 2018 Mar 2. J Invest Dermatol. 2018. PMID: 29505760 Free article. No abstract available.
Hyperkeratotic hand eczema: Eczema or not?
Politiek K, Loman L, Pas HH, Diercks GFH, Lemmink HH, Jan SZ, van den Akker PC, Bolling MC, Schuttelaar MLA. Politiek K, et al. Among authors: bolling mc. Contact Dermatitis. 2020 Sep;83(3):196-205. doi: 10.1111/cod.13572. Epub 2020 Jun 1. Contact Dermatitis. 2020. PMID: 32333380 Free PMC article.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: bolling mc. Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9. Br J Dermatol. 2022. PMID: 35975634 Free PMC article.
68 results