Cell
ArticleA leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
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Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes
2019, Journal of Investigative DermatologyThe Molecular Revolution in Cutaneous Biology: Identification of Skin Disease Genes
2017, Journal of Investigative DermatologyConsequences of Keratin Phosphorylation for Cytoskeletal Organization and Epithelial Functions
2017, International Review of Cell and Molecular BiologyCitation Excerpt :Links to keratin phosphorylation have also been found in EH, another autosomal dominant skin disorder which involves disruption of the structural integrity of the suprabasal layers of the epidermis. K1 L160P (157NQSLLQPL164 → 157NQSPLQPL164) is a mutation in the H1 subdomain of K1 of patients with EH which leads to the generation of a new potential phosphorylation site in the adjacent serine (Chipev et al., 1992). In support, p38 MAPK mediated in vitro hyperphosphorylation of K8-L71P mutants, which also contain a novel phosphorylation site (K8-S70) in the H1 subdomain corresponding to K1-S159.
Keratin 1 plays a critical role in golgi localization of core 2 N-acetylglucosaminyltransferase M via interaction with its cytoplasmic tail
2015, Journal of Biological ChemistryEpidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: Results from a nationwide survey
2013, Journal of the American Academy of DermatologyCitation Excerpt :Our method of estimating the number of patients with an intractable disease has been reported previously and was found to be valid.3 The sampling strategy used here to estimate the number of patients has been used in surveys of other intractable diseases in Japan conducted by the Research Committee on Epidemiology of Intractable Diseases.4-16 The response rate to this survey was relatively high (63.2%) when compared with response rates to other nationwide surveys of intractable diseases in Japan, which have ranged from 41.0% to 63.8%.6-14
Ichthyosiform Dermatoses
2013, Emery and Rimoin's Principles and Practice of Medical Genetics