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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. Boczonadi V, et al. Among authors: dor t. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. Nat Commun. 2014. PMID: 24989451 Free PMC article.
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Confino S, Dor T, Tovin A, Wexler Y, Ben-Moshe Livne Z, Kolker M, Pisanty O, Park SK, Geyer N, Reiter J, Edvardson S, Mor-Shaked H, Elpeleg O, Vallone D, Appelbaum L, Foulkes NS, Gothilf Y. Confino S, et al. Among authors: dor t. Int J Mol Sci. 2022 Feb 21;23(4):2373. doi: 10.3390/ijms23042373. Int J Mol Sci. 2022. PMID: 35216494 Free PMC article.
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
Confino S, Wexler Y, Medvetzky A, Elazary Y, Ben-Moshe Z, Reiter J, Dor T, Edvardson S, Prag G, Harel T, Gothilf Y. Confino S, et al. Among authors: dor t. Dis Model Mech. 2024 Aug 1;17(8):dmm050746. doi: 10.1242/dmm.050746. Epub 2024 Aug 27. Dis Model Mech. 2024. PMID: 39189071 Free PMC article.
27 results