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Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Csukasi F, et al. Among authors: barad m. Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31389106 Free PMC article.
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.
Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D. Csukasi F, et al. Among authors: barad m. Sci Transl Med. 2018 Sep 19;10(459):eaat9356. doi: 10.1126/scitranslmed.aat9356. Sci Transl Med. 2018. PMID: 30232230 Free PMC article.