ArticleThe Journal of investigative dermatology2012
Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.
Article in The Journal of investigative dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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44 citing papers in PubMed, 72 citations in OpenAlex.
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- Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.Open biology · 2024Article
- Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.The Journal of investigative dermatology · 2024Review
- Article
- A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms.International journal of molecular sciences · 2023Review
- Healing Ability of Central Corneal Epithelium in Rabbit Ocular Surface Injury Models.Translational vision science & technology · 2022Article
- Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders.Human genomics · 2022Article
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- From structural resilience to cell specification - Intermediate filaments as regulators of cell fate.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Review
- Damaged Keratin Filament Network Caused byFrontiers in genetics · 2021Article
- Gene signatures associated with barrier dysfunction and infection in oral lichen planus identified by analysis of transcriptomic data.PloS one · 2021Article
- Non-Esterified Fatty Acid-Induced Reactive Oxygen Species Mediated Granulosa Cells Apoptosis Is Regulated by Nrf2/p53 Signaling Pathway.Antioxidants (Basel, Switzerland) · 2020Article
- A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.Molecular biology of the cell · 2020Article
- Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.The British journal of dermatology · 2020Review
- Polycomb Repressive Complex 1 Controls Maintenance of Fungiform Papillae by Repressing Sonic Hedgehog Expression.Cell reports · 2019Article
- Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.Human molecular genetics · 2019Article
- Differential Evolution of the Epidermal Keratin Cytoskeleton in Terrestrial and Aquatic Mammals.Molecular biology and evolution · 2019Article
- Filaments and phenotypes: cellular roles and orphan effects associated with mutations in cytoplasmic intermediate filament proteins.F1000Research · 2019Review
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Abstract
Keratin 16 (KRT16 in human, Krt16 in mouse), a type I intermediate filament protein, is constitutively expressed in epithelial appendages and is induced in the epidermis upon wounding and other stressors. Mutations altering the coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, oral leukokeratosis, and palmoplantar keratoderma (PPK). PPK associated with PC is extremely painful and compromises patient mobility, making it the most debilitating PC symptom. In this study, we show that, although inherited in a recessive manner, the inactivation of Krt16 in mice consistently causes oral lesions as well as PPK-like hyperkeratotic calluses on Krt16(-/-) front and hind paws, which severely compromise the animals' ability to walk. Our findings call into question the view that PC-related PPK arises exclusively as a gain-of-function on account of dominantly acting mutated keratins, and highlight the key role of modifiers in the clinical heterogeneity of PC symptoms.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.