ReviewJournal of dermatological science2008
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
Review in Journal of dermatological science, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed.
- 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
- Allele-selective von Willebrand factor silencing.Research and practice in thrombosis and haemostasis · 2026Article
- Functional roles of Keratin 6A in disease pathogenesis across cancer and skin disorders.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- The future of siRNA-mediated approaches to treat von Willebrand disease.Expert review of hematology · 2025Review
- Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings.Current issues in molecular biology · 2024Review
- Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.The Journal of investigative dermatology · 2024Review
- Modified Linear Peptides Effectively Silence STAT-3 in Breast Cancer and Ovarian Cancer Cell Lines.Pharmaceutics · 2023Article
- Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.The Journal of investigative dermatology · 2021Article
- Silencing PCBP2 normalizes desmoplastic stroma and improves the antitumor activity of chemotherapy in pancreatic cancer.Theranostics · 2021Article
- Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.The British journal of dermatology · 2020Review
- Effective In Vivo Topical Delivery of siRNA and Gene Silencing in Intact Corneal Epithelium Using a Modified Cell-Penetrating Peptide.Molecular therapy. Nucleic acids · 2019Article
- ASPsiRNA: A Resource of ASP-siRNAs Having Therapeutic Potential for Human Genetic Disorders and Algorithm for Prediction of Their Inhibitory Efficacy.G3 (Bethesda, Md.) · 2017Article
- Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.Molecular imaging and biology · 2016Article
- Nucleic acid delivery into skin for the treatment of skin disease: Proofs-of-concept, potential impact, and remaining challenges.Journal of controlled release : official journal of the Controlled Release Society · 2015Review
- Development of cholesteryl peptide micelles for siRNA delivery.Journal of controlled release : official journal of the Controlled Release Society · 2013Article
- Gene Silencing in Skin After Deposition of Self-Delivery siRNA With a Motorized Microneedle Array Device.Molecular therapy. Nucleic acids · 2013Article
- Silencing human genetic diseases with oligonucleotide-based therapies.Human genetics · 2013Review
- Delivery systems and local administration routes for therapeutic siRNA.Pharmaceutical research · 2013Review
- Matrix metalloproteinase-inspired suicidal treatments of diabetic ulcers with siRNA-decorated nanofibrous meshes.Gene therapy · 2013Article
- Gene silencing following siRNA delivery to skin via coated steel microneedles: In vitro and in vivo proof-of-concept.Journal of controlled release : official journal of the Controlled Release Society · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable exception to this exists for pachyonychia congenita (PC), a rare, dominant-negative keratin disorder. The establishment of a non-profit organization, PC Project, has led to an unprecedented coalescence of patients, scientists, and physicians with a unified vision of developing novel therapeutics for PC. Utilizing the technological by-products of the human genome project, such as RNA interference (RNAi) and quantitative RT-PCR (qRT-PCR), physicians and scientists have collaborated to create a candidate siRNA therapeutic that selectively inhibits a mutant allele of KRT6A, the most commonly affected PC keratin. In vitro investigation of this siRNA demonstrates potent inhibition of the mutant allele and reversal of the cellular aggregation phenotype. In parallel, an allele-specific quantitative real-time RT-PCR assay has been developed and validated on patient callus samples in preparation for clinical trials. If clinical efficacy is ultimately demonstrated, this "first-in-skin" siRNA may herald a paradigm shift in the treatment of dominant-negative genetic disorders.
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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.