ArticleAmerican journal of human genetics2011
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 117 citations in OpenAlex.
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- O-Mannose Glycosylations Influence E-Cadherin Functional Interactions.Molecular & cellular proteomics : MCP · 2026Article
- M2-like GAMs secreting CSTA drive glioblastoma progression via the ITGB4-TGFB1 feedback axis.Journal of translational medicine · 2026Article
- Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases.Cell and tissue research · 2026Review
- TUSCAN: Tumor segmentation and classification analysis in spatial transcriptomics.PLoS computational biology · 2026Article
- The Genetics of Acne.Annals of human genetics · 2025Review
- Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.The Journal of dermatology · 2025Article
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- The roles of serine protease inhibitors in dermatoses.Frontiers in genetics · 2025Review
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- Adipose-Derived Mesenchymal Stem Cells Accelerate Diabetic Foot Ulcer Healing by Promoting Macrophage M2 Polarization Through Downregulation ofJournal of inflammation research · 2025Article
- Identification and validation of Cystatin A as a novel promising therapeutic target for gastric cancer.Journal of gastrointestinal oncology · 2024Article
- Diagnostics of Allergy to Furry Animals-Possibilities in 2024.Journal of clinical medicine · 2024Review
- PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.Human genetics · 2023Article
- Skin chronological aging drives age-related bone loss via secretion of cystatin-A.Nature aging · 2022Article
- RSDB: A rare skin disease database to link drugs with potential drug targets for rare skin diseases.Scientific data · 2022Article
- Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.Experimental dermatology · 2022Article
- A role for whey acidic protein four-disulfide-core 12 (WFDC12) in the pathogenesis and development of psoriasis disease.Frontiers in immunology · 2022Article
- SILAC-based quantitative proteomics and microscopy analysis of cancer cells treated with theFrontiers in immunology · 2022Article
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.Frontiers in genetics · 2021Article
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
Autosomal-recessive exfoliative ichthyosis presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of nonerythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis. We found two homozygous mutations, a splice-site and a nonsense mutation, in two consanguineous families of Bedouin and Turkish origin. Electron microscopy of skin biopsies from affected individuals revealed that the level of detachment occurs in the basal and lower suprabasal layers. In addition, in vitro modeling suggests that in the absence of cystatin A protein, there is a cell-cell adhesion defect in human keratinocytes that is particularly prominent when cells are subject to mechanical stress. We show here evidence of a key role for a protease inhibitor in epidermal adhesion within the lower layers of the human epidermis.
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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.