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Page 1
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG. Logli E, et al. Among authors: has c. Hum Mol Genet. 2022 Apr 22;31(8):1308-1324. doi: 10.1093/hmg/ddab318. Hum Mol Genet. 2022. PMID: 34740256 Free PMC article.
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Has C, et al. J Invest Dermatol. 2006 Aug;126(8):1776-83. doi: 10.1038/sj.jid.5700339. Epub 2006 May 4. J Invest Dermatol. 2006. PMID: 16675959 Free article.
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H. Natsuga K, et al. Among authors: has c. Hum Mutat. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189. Hum Mutat. 2010. PMID: 20052759
Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N- and C-terminal globular domains. ...In EBS-PA, expression of all plectin domains was found to be markedly attenuated or completely lost; in EBS-MD, the express …
Plectin is a cytoskeletal linker protein that has a dumbbell-like structure with a long central rod and N- and C-terminal glob …
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 …
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. van den Akker PC, et al. Among authors: has c. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
307 results