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Quoted phrase not found in phrase index: "Erythrokeratodermia variabilis et progressiva 5"
Page 1
Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.
Wang H, Xu Z, Lee BH, Vu S, Hu L, Lee M, Bu D, Cao X, Hwang S, Yang Y, Zheng J, Lin Z. Wang H, et al. J Invest Dermatol. 2019 May;139(5):1089-1097. doi: 10.1016/j.jid.2018.10.044. Epub 2018 Dec 5. J Invest Dermatol. 2019. PMID: 30528822 Free article. Review.
Here, we report cases of mutations in TRPM4, which encodes TRPM4, a Ca(2+)-activated monovalent cation channel, as a cause of an autosomal dominant form of progressive symmetric erythrokeratodermia. In three separate families with progressive symmetric erythrokeratoderm …
Here, we report cases of mutations in TRPM4, which encodes TRPM4, a Ca(2+)-activated monovalent cation channel, as a cause of an autosomal d …
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Tang C, Chen X, Chi J, Yang D, Liu S, Liu M, Pan Q, Fan J, Wang D, Zhang Z. Tang C, et al. Hum Mol Genet. 2015 Nov 1;24(21):6054-65. doi: 10.1093/hmg/ddv317. Epub 2015 Aug 6. Hum Mol Genet. 2015. PMID: 26251042
Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive. ...
Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis …
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
Zaki TD, Yoo KY, Kassardjian M, Choate KA. Zaki TD, et al. Pediatr Dermatol. 2018 Nov;35(6):e414-e415. doi: 10.1111/pde.13643. Epub 2018 Aug 28. Pediatr Dermatol. 2018. PMID: 30152556 Free PMC article.
It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with eryt …
It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who devel …