ArticleGenes & development2004
Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice.
Article in Genes & development, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 103 citations in OpenAlex.
- Aging-related olfactory loss is associated with olfactory stem cell transcriptional alterations in humans.The Journal of clinical investigation · 2022Trial
- Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.The Journal of pathology · 2026Review
- Sphingolipid metabolism orchestrates establishment of the hair follicle stem cell compartment.The Journal of cell biology · 2025Article
- Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.Communications biology · 2024Article
- A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.Pediatric dermatology · 2022Article
- SPINK2 is a prognostic biomarker related to immune infiltration in acute myeloid leukemia.American journal of translational research · 2022Article
- Rescuing lethal phenotypes induced by disruption of genes in mice: a review of novel strategies.Physiological research · 2021Review
- Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome.Disease models & mechanisms · 2020Article
- The atopic march: current insights into skin barrier dysfunction and epithelial cell-derived cytokines.Immunological reviews · 2017Review
- Netherton Syndrome: A Genotype-Phenotype Review.Molecular diagnosis & therapy · 2017Review
- KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype.PLoS genetics · 2017Article
- KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.PLoS genetics · 2015Article
- Epidermal barriers.Cold Spring Harbor perspectives in medicine · 2014Review
- Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome.The Journal of experimental medicine · 2014Article
- Cleavage of transmembrane junction proteins and their role in regulating epithelial homeostasis.Tissue barriers · 2013Review
- Epidermal barrier dysfunction and cutaneous sensitization in atopic diseases.The Journal of clinical investigation · 2012Review
- Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development.Development (Cambridge, England) · 2011Article
- Impaired spermatogenesis and fertility in mice carrying a mutation in the Spink2 gene expressed predominantly in testes.The Journal of biological chemistry · 2011Article
- C/EBPδ gene targets in human keratinocytes.PloS one · 2010Article
- Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.Nature genetics · 2010Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Netherton syndrome (NS) is a human autosomal recessive skin disease caused by mutations in the SPINK5 gene, which encodes the putative proteinase inhibitor LEKTI. We have generated a transgenic mouse line with an insertional mutation that inactivated the mouse SPINK5 ortholog. Mutant mice exhibit fragile stratum corneum and perinatal death due to dehydration. Our analysis suggests that the phenotype is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin, an extracellular desmosomal component. Our mouse mutant provides a model system for molecular studies of desmosomal stability and keratinocyte adhesion, and for designing therapeutic strategies to treat NS.
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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.