76 | DECODING THES PATHOGENESIS: HOW TTC37 SHAPES GUT HOMEOSTASIS AND PERISTALSIS
Trichohepatoenteric Syndrome (THES) is an ultra-rare, multisystem disorder caused by biallelic mutations in the TTC37 or SKIV2L genes, which encode essential subunits of the SKI complex, a cofactor for the RNA exosome. The hallmark of THES is intractable diarrhea, often necessitating parenteral nutr...
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| Hovedforfatter: | |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
PAGEPress Publications
2026-06-01
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| Serier: | European Journal of Histochemistry |
| Online adgang: | https://www.ejh.it/ejh/article/view/4694 |
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