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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 …
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.
The genetics of skin fragility.
Has C, Bruckner-Tuderman L. Has C, et al. Annu Rev Genomics Hum Genet. 2014;15:245-68. doi: 10.1146/annurev-genom-090413-025540. Epub 2014 May 29. Annu Rev Genomics Hum Genet. 2014. PMID: 24898041 Review.
Renal-skin syndromes.
Has C, He Y. Has C, et al. Cell Tissue Res. 2017 Jul;369(1):63-73. doi: 10.1007/s00441-017-2623-y. Epub 2017 Apr 22. Cell Tissue Res. 2017. PMID: 28432467 Review.
297 results