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January 2012 in “International Food Research Journal” Tofacitinib effectively treated a woman's severe symptoms from a rare autoimmune condition.
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April 2012 in “Journal of Investigative Dermatology” KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
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January 2024 in “Annals of Dermatology” Dickkopf-related Protein 2 can help hair grow by activating a specific cell pathway.
April 2026 in “Proceedings of the National Academy of Sciences” The study identifies Tmem30b as a crucial regulator in outer hair cells (OHCs) for hearing, highlighting its role in maintaining the structure of hair bundles in the cochlea. Tmem30b, a phospholipid-flippase chaperone, initially localizes to the nuclear membrane and later stabilizes in the stereocilia and cuticular plate. Tmem30b −/− mice show early-onset hearing loss due to disorganized OHC stereocilia, starting at P7. Tmem30b partners with Atp8b1 to regulate phospholipid asymmetry, and disruption of this complex destabilizes OHC bundles. AAV-mediated delivery of Tmem30b to hair cells corrects stereocilia defects in Tmem30b −/− and Atp8b1 −/− mice, and overexpression of Tmem30b protects against noise-induced and aminoglycoside-induced hearing loss. The findings suggest Tmem30b–Atp8b1–mediated lipid regulation as a potential therapeutic target for hearing loss.
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