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Page 1
Oxidative stress and mitochondrial dysfunction in Kindler syndrome.
Zapatero-Solana E, García-Giménez JL, Guerrero-Aspizua S, García M, Toll A, Baselga E, Durán-Moreno M, Markovic J, García-Verdugo JM, Conti CJ, Has C, Larcher F, Pallardó FV, Del Rio M. Zapatero-Solana E, et al. Among authors: has c. Orphanet J Rare Dis. 2014 Dec 21;9:211. doi: 10.1186/s13023-014-0211-8. Orphanet J Rare Dis. 2014. PMID: 25528446 Free PMC article.
Induction of phenotype modifying cytokines by FERMT1 mutations.
Heinemann A, He Y, Zimina E, Boerries M, Busch H, Chmel N, Kurz T, Bruckner-Tuderman L, Has C. Heinemann A, et al. Among authors: has c. Hum Mutat. 2011 Apr;32(4):397-406. doi: 10.1002/humu.21449. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309038 Free article.
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.
Kiritsi D, He Y, Pasmooij AM, Onder M, Happle R, Jonkman MF, Bruckner-Tuderman L, Has C. Kiritsi D, et al. Among authors: has c. J Clin Invest. 2012 May;122(5):1742-6. doi: 10.1172/JCI61976. Epub 2012 Apr 2. J Clin Invest. 2012. PMID: 22466645 Free PMC article.
Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. ...All patients presented duplication mutations (c.456dupA and c.676dupC) in FERMT1 …
Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that unde …
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Kiritsi D, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, Kohlhase J, van den Akker PC, Scheffer H, Jonkman MF, Del Rio M, Bruckner-Tuderman L, Pasmooij AMG. Kiritsi D, et al. Among authors: has c. J Invest Dermatol. 2014 Aug;134(8):2097-2104. doi: 10.1038/jid.2014.118. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577406 Free article.
FERMT1 promoter mutations in patients with Kindler syndrome.
Has C, Chmel N, Levati L, Neri I, Sonnenwald T, Pigors M, Godbole K, Dudhbhate A, Bruckner-Tuderman L, Zambruno G, Castiglia D. Has C, et al. Clin Genet. 2015 Sep;88(3):248-54. doi: 10.1111/cge.12490. Epub 2014 Oct 7. Clin Genet. 2015. PMID: 25156791
312 results