Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients - PubMed (original) (raw)

Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.

Williams RM, Taylor G, Ling ITC, Candido-Ferreira I, Fountain DM, Mayes S, Ateş-Kalkan PS, Haug JO, Price AJ, McKinney SA, Bozhilovh YK, Tyser RCV, Srinivas S, Hughes JR, Sauka-Spengler T. Williams RM, et al. PLoS Biol. 2024 Oct 17;22(10):e3002786. doi: 10.1371/journal.pbio.3002786. eCollection 2024 Oct. PLoS Biol. 2024. PMID: 39418292 Free PMC article.

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Williams EA, Ravindranathan A, Gupta R, Stevers NO, Suwala AK, Hong C, Kim S, Yuan JB, Wu J, Barreto J, Lucas CG, Chan E, Pekmezci M, LeBoit PE, Mully T, Perry A, Bollen A, Van Ziffle J, Devine WP, Reddy AT, Gupta N, Basnet KM, Macaulay RJB, Malafronte P, Lee H, Yong WH, Williams KJ, Juratli TA, Mata DA, Huang RSP, Hiemenz MC, Pavlick DC, Frampton GM, Janovitz T, Ross JS, Chang SM, Berger MS, Jacques L, Song JS, Costello JF, Solomon DA. Williams EA, et al. Neuro Oncol. 2023 Dec 8;25(12):2221-2236. doi: 10.1093/neuonc/noad121. Neuro Oncol. 2023. PMID: 37436963 Free PMC article.