ArticleThe Journal of clinical investigation1992
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
Article in The Journal of clinical investigation, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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
36 citing papers in PubMed, 126 citations in OpenAlex.
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- Oncosuppressive roles of decorin through regulation of multiple receptors and diverse signaling pathways.American journal of physiology. Cell physiology · 2022Review
- Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.Annals of medicine · 2021Article
- A functional outside-in signaling network of proteoglycans and matrix molecules regulating autophagy.Matrix biology : journal of the International Society for Matrix Biology · 2021Article
- Decorin deficiency promotes epithelial-mesenchymal transition and colon cancer metastasis.Matrix biology : journal of the International Society for Matrix Biology · 2021Article
- Complexity of matrix phenotypes.Matrix biology plus · 2020Article
- Metabolic reprogramming of murine cardiomyocytes during autophagy requires the extracellular nutrient sensor decorin.The Journal of biological chemistry · 2018Article
- Extracellular matrix: The driving force of mammalian diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Endorepellin remodels the endothelial transcriptome toward a pro-autophagic and pro-mitophagic gene signature.The Journal of biological chemistry · 2018Article
- The perlecan-interacting growth factor progranulin regulates ubiquitination, sorting, and lysosomal degradation of sortilin.Matrix biology : journal of the International Society for Matrix Biology · 2017Article
- Decorin-evoked paternally expressed gene 3 (PEG3) is an upstream regulator of the transcription factor EB (TFEB) in endothelial cell autophagy.The Journal of biological chemistry · 2017Article
- Decorin-inducible Peg3 Evokes Beclin 1-mediated Autophagy and Thrombospondin 1-mediated Angiostasis.The Journal of biological chemistry · 2017Article
- The nature and biology of basement membranes.Matrix biology : journal of the International Society for Matrix Biology · 2017Review
- Endorepellin-evoked Autophagy Contributes to Angiostasis.The Journal of biological chemistry · 2016Article
- Endorepellin evokes autophagy in endothelial cells.The Journal of biological chemistry · 2014Article
- Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica.International wound journal · 2014Article
- Tissue engineering of tumor stromal microenvironment with application to cancer cell invasion.Journal of visualized experiments : JoVE · 2014Article
- Endorepellin laminin-like globular 1/2 domains bind Ig3-5 of vascular endothelial growth factor (VEGF) receptor 2 and block pro-angiogenic signaling by VEGFA in endothelial cells.The FEBS journal · 2013Article
- Decorin induces rapid secretion of thrombospondin-1 in basal breast carcinoma cells via inhibition of Ras homolog gene family, member A/Rho-associated coiled-coil containing protein kinase 1.The FEBS journal · 2013Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the dystrophic (scarring) forms of EB have suggested abnormalities in anchoring fibrils, morphologically recognizable attachment structures that provide stability to the association of the cutaneous basement membrane to the underlying dermis. Since type VII collagen is the major component of the anchoring fibrils, we examined the genetic linkage of dominant dystrophic EB (EBDD) and the type VII collagen gene (COL7A1) locus, which we have recently mapped to chromosome 3p, in three large kindreds with abnormal anchoring fibrils. Strong genetic linkage of EBDD and COL7A1 loci was demonstrated with the maximum logarithm of odds (LOD) score of 8.77 at theta = 0. This linkage was further confirmed with two additional markers in this region of the short arm of chromosome 3, and these analyses allowed further refinement of the map locus of COL7A1. Since there were no recombinants between the COL7A1 and EBDD loci, our findings suggest that type VII collagen is the candidate gene that may harbor the mutations responsible for the EB phenotype in these three families.
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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.