The prevalence of protein misfolding as a mechanism for hereditary deafness
Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe, Amanda M. Odell, Chloe E. Ovel, Katherine I. McCormick, Brian Hong, Hela Azaiez, Thomas L. Casavant, Richard J. H. Smith, Terry A. Braun, Michael J. Schnieders · 2026
Read The prevalence of protein misfolding as a mechanism for hereditary deafness by Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe, Amanda M. Odell, Chloe E. Ovel, Katherine I. McCormick, Brian Hong, Hela Azaiez, Thomas L. Casavant, Richard J. H. Smith, Terry A. Braun, Michael J. Schnieders (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13641712.txt.
Description
Rose A. Gogal and twelve colleagues present a study on judging whether gene changes of unknown meaning cause hereditary deafness through protein misfolding. A public deafness database holds hundreds of thousands of such uncertain variants across 224 genes.
The team built probability models that weigh prediction scores, each gene's tolerance for change, and computed effects on protein stability. Adding folding stability improved accuracy and gave a physical reason for harm. Nearly twenty-nine thousand uncertain variants crossed a high-confidence threshold for likely harm, and twelve patients had their diagnosis upgraded as a result. The framework offers labs a principled way to sort uncertain findings.
Catalog record
| CREATOR | Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe, Amanda M. Odell, Chloe E. Ovel, Katherine I. McCormick, Brian Hong, Hela Azaiez, Thomas L. Casavant, Richard J. H. Smith, Terry A. Braun, Michael J. Schnieders |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 50 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |