ArticleMolecular and cellular biology2005
Overcoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic mice.
Article in Molecular and cellular biology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.Molecular therapy : the journal of the American Society of Gene Therapy · 2010Trial
- Cornified Epithelial Teeth of Jawless Vertebrates Contain Proteins Similar to Keratin-Associated Proteins of Mammalian Skin Appendages.Journal of developmental biology · 2025Article
- Shifts in keratin isoform expression activate motility signals during wound healing.Developmental cell · 2024Article
- Keratin isoform shifts modulate motility signals during wound healing.bioRxiv : the preprint server for biology · 2024Article
- Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.The British journal of dermatology · 2020Review
- Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.Human molecular genetics · 2019Article
- Gene expression profiling in pachyonychia congenita skin.Journal of dermatological science · 2015Article
- Gene Silencing in Skin After Deposition of Self-Delivery siRNA With a Motorized Microneedle Array Device.Molecular therapy. Nucleic acids · 2013Article
- Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.The Journal of investigative dermatology · 2012Article
- Genetically engineered mouse models for skin research: taking the next step.Journal of dermatological science · 2008Review
- Hedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditions.The American journal of pathology · 2008Article
- Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutation.Molecular biology of the cell · 2005Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Mutations affecting the coding sequence of intermediate filament (IF) proteins account for >30 disorders, including numerous skin bullous diseases, myopathies, neuropathies, and even progeria. The manipulation of IF genes in mice has been widely successful for modeling key features of such clinically distinct disorders. A notable exception is pachyonychia congenita (PC), a disorder in which the nail and other epithelial appendages are profoundly aberrant. Most cases of PC are due to mutations in one of the following keratin-encoding genes: K6, K16, and K17. Yet null alleles obliterating the function of both K6 genes (K6alpha and K6beta) or the K17 gene, as well as the targeted expression of a dominant-negative K6alpha mutant, elicit only a subset of PC-specific epithelial lesions (excluding that of the nail in mice). We show that newborn mice null for K6alpha, K6beta, and K17 exhibit severe lysis restricted to the nail bed epithelium, where all three genes are robustly expressed, providing strong evidence that this region of the nail unit is initially targeted in PC. Our findings point to significant redundancy among the multiple keratins expressed in hair and nail, which can be related to the common ancestry, clustered organization, and sequence relatedness of specific keratin genes.
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Registered trials
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.