ArticleProceedings of the National Academy of Sciences of the United States of America1992
Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 82 citations in OpenAlex.
- Identification of KRT80 as a Novel Prognostic and Predictive Biomarker of Human Lung Adenocarcinoma via Bioinformatics Approaches.Combinatorial chemistry & high throughput screening · 2025Article
- Differential Evolution of the Epidermal Keratin Cytoskeleton in Terrestrial and Aquatic Mammals.Molecular biology and evolution · 2019Article
- Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.Medicina oral, patologia oral y cirugia bucal · 2018Article
- Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.PloS one · 2018Article
- Revertant mosaicism in genodermatoses.Cellular and molecular life sciences : CMLS · 2017Review
- Ichthyosis with confetti: clinics, molecular genetics and management.Orphanet journal of rare diseases · 2015Review
- Exploring the feasibility of bioaerosol analysis as a novel fingerprinting technique.Analytical and bioanalytical chemistry · 2012Review
- Skin Hydration and Collagen Synthesis of AF-343 in HS68 Cell Line and NC/Nga Mice by Filaggrin Expression and Suppression of Matrix Metallopreteinase.Toxicological research · 2011Article
- Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity.Allergy · 2011Article
- Against the rules: human keratin K80: two functional alternative splice variants, K80 and K80.1, with special cellular localization in a wide range of epithelia.The Journal of biological chemistry · 2010Article
- Structure and functions of keratin proteins in simple, stratified, keratinized and cornified epithelia.Journal of anatomy · 2009Review
- New consensus nomenclature for mammalian keratins.The Journal of cell biology · 2006Article
- The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- Impaired slow inactivation in mutant sodium channels.Biophysical journal · 1996Article
- Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.The Journal of cell biology · 1996Article
- The molecular basis for inherited bullous diseases.Journal of molecular medicine (Berlin, Germany) · 1996Review
- A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.Journal of medical genetics · 1994Article
- Effective amplification of long targets from cloned inserts and human genomic DNA.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.The Journal of clinical investigation · 1994Article
- Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Existing data suggest that the human keratin 10 intermediate filament protein is polymorphic in amino acid sequence and in size. To precisely define the nature of the polymorphism, we have used PCR amplification and sequence analyses on DNA from several individuals including five with documented size variations of the keratin 10 protein. We found no variation in the N-terminal or rod domain sequences. However, we observed many variations in the V2 subdomain near the C terminus in glycine-rich sequences with a variation of as much as 114 base pairs (38 amino acids), but all individuals had either one or two variants. Our results show that (i) the keratin 10 system is far more polymorphic than previously realized, (ii) the polymorphism is restricted to insertions and deletions of the glycine-rich quasipeptide repeats that form the glycine-loop motif in the C-terminal domain, (iii) the polymorphism can be accounted for by simple allelic variations that segregate by normal Mendelian mechanisms, and (iv) the differently sized PCR products most likely represent different alleles of a single-copy gene per haploid genome.
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