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Page 1
Integrin α3 negative podocytes: A gene expression study.
Frommherz LH, Sayar SB, Wang Y, Trefzer LK, He Y, Leppert J, Eßer P, Has C. Frommherz LH, et al. Among authors: has c. Matrix Biol Plus. 2022 Aug 11;16:100119. doi: 10.1016/j.mbplus.2022.100119. eCollection 2022 Dec. Matrix Biol Plus. 2022. PMID: 36060790 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.
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.
Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C. Pigors M, et al. Among authors: has c. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14. Hum Mol Genet. 2011. PMID: 21320868
As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [junction plakoglobin (JUP)] have been associated with mild cutaneous disease, palmoplantar keratoderma and arrhythmogenic heart disease. Here …
As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [j …
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 …
Integrin α3 mutations with kidney, lung, and skin disease.
Has C, Spartà G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF. Has C, et al. N Engl J Med. 2012 Apr 19;366(16):1508-14. doi: 10.1056/NEJMoa1110813. N Engl J Med. 2012. PMID: 22512483 Free PMC article.
312 results