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@1lety20: perfume Good girl velvet fatale 👠en inspiración Fraiche ✨ inspiraciones Mafe 🌸 Paso del Macho

1lety20
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Tuesday 25 August 2026 04:44:03 GMT
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hEDS has been the only major EDS subtype without a confirmed causative gene, which has limited diagnostic testing and slowed research progress. A 2025 study from the Medical University of South Carolina identified KLK15 as the first strong candidate gene. Gensemer et al. 2025 in iScience found variants in the KLK15 gene at significantly higher rates in hEDS families compared to controls. Mouse models with KLK15 mutations developed both connective tissue abnormalities and immune dysregulation including dysregulated cytokine profiles. This finding suggests that hEDS may be a single molecular pathway affecting multiple systems at once, which aligns with the proteomics findings from Griggs et al. 2025 in ImmunoHorizons. This is early-stage research that needs replication in larger and more diverse cohorts. KLK15 may not be the only gene involved in hEDS, and it doesn’t yet enable clinical genetic testing for diagnosis. The 2017 clinical diagnostic criteria remain the standard. I’m not a doctor, just sharing research I find interesting. Sources: Gensemer et al. (2025). iScience. DOI: 10.1016/j.isci.2025.113343 #heds #ehlersdanlos #research
hEDS has been the only major EDS subtype without a confirmed causative gene, which has limited diagnostic testing and slowed research progress. A 2025 study from the Medical University of South Carolina identified KLK15 as the first strong candidate gene. Gensemer et al. 2025 in iScience found variants in the KLK15 gene at significantly higher rates in hEDS families compared to controls. Mouse models with KLK15 mutations developed both connective tissue abnormalities and immune dysregulation including dysregulated cytokine profiles. This finding suggests that hEDS may be a single molecular pathway affecting multiple systems at once, which aligns with the proteomics findings from Griggs et al. 2025 in ImmunoHorizons. This is early-stage research that needs replication in larger and more diverse cohorts. KLK15 may not be the only gene involved in hEDS, and it doesn’t yet enable clinical genetic testing for diagnosis. The 2017 clinical diagnostic criteria remain the standard. I’m not a doctor, just sharing research I find interesting. Sources: Gensemer et al. (2025). iScience. DOI: 10.1016/j.isci.2025.113343 #heds #ehlersdanlos #research


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