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Page 1
The auditory midbrain mediates tactile vibration sensing.
Huey EL, Turecek J, Delisle MM, Mazor O, Romero GE, Dua M, Sarafis ZK, Hobble A, Booth KT, Goodrich LV, Corey DP, Ginty DD. Huey EL, et al. Cell. 2025 Jan 9;188(1):104-120.e18. doi: 10.1016/j.cell.2024.11.014. Epub 2024 Dec 18. Cell. 2025. PMID: 39701100 Free PMC article.
Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochlea.
Ivanchenko MV, Booth KTA, Karavitaki KD, Antonellis LM, Nagy MA, Peters CW, Price S, Li Y, Lytvyn A, Ward A, Griffith EC, Hrvatin S, Greenberg ME, Corey DP. Ivanchenko MV, et al. Among authors: booth kta. Nat Commun. 2025 Dec 16;16(1):11157. doi: 10.1038/s41467-025-66110-2. Nat Commun. 2025. PMID: 41402290 Free PMC article.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. Tshering KC, et al. Among authors: booth kta. Genet Med. 2025 Oct;27(10):101500. doi: 10.1016/j.gim.2025.101500. Epub 2025 Sep 7. Genet Med. 2025. PMID: 40923570 Free article. No abstract available.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Fielder SM, Friederich MW, Hock DH, Zhang JR, Valin LM, Rosenfeld JA, Booth KTA, Brown NJ, Rius R, Sharma T, Semcesen LN, Worley KC, Burrage LC, Treat K, Samson T, Govert S, DaCunha S, Yuan W, Chen J, Lesinski J, Hoang H, Morrison SA, Ladha FA, Van Hove RA, Michel CR, Reisdorph R, Tycksen E, Baldridge D, Silverman GA, Soler-Alfonso C, Conboy E, Vetrini F, Emrick L, Craigen WJ; Undiagnosed Diseases Network; Sykes SM, Stroud DA, Van Hove JLK, Schedl T, Pak SC. Fielder SM, et al. Among authors: booth kta. EMBO Mol Med. 2025 Oct;17(10):2562-2585. doi: 10.1038/s44321-025-00290-8. Epub 2025 Aug 26. EMBO Mol Med. 2025. PMID: 40859057 Free PMC article.
67 results