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Page 1
Functions of Vertebrate Ferlins.
Bulankina AV, Thoms S. Bulankina AV, et al. Among authors: thoms s. Cells. 2020 Feb 25;9(3):534. doi: 10.3390/cells9030534. Cells. 2020. PMID: 32106631 Free PMC article. Review.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild … See abstract for full author list ➔ Asadollahi R, et al. Among authors: thoms s. Nat Genet. 2025 Nov;57(11):2691-2704. doi: 10.1038/s41588-025-02361-5. Epub 2025 Oct 22. Nat Genet. 2025. PMID: 41125872 Free PMC article.
Defining the high-translational readthrough stop codon context.
Smoljanow D, Lebeda D, Hofhuis J, Thoms S. Smoljanow D, et al. Among authors: thoms s. PLoS Genet. 2025 Jun 25;21(6):e1011753. doi: 10.1371/journal.pgen.1011753. eCollection 2025 Jun. PLoS Genet. 2025. PMID: 40561183 Free PMC article.
RNF20/RNF40 supports the aggressive behavior in cervical cancer by regulating a peroxisome-based anti-ferroptotic mechanism.
Jansari S, Blandau A, Prokakis E, Grimm D, Naßl AM, Küffer S, Möbius W, Dullin C, Ramos-Gomes F, Schüürhuis L, Fritsche L, Schridde L, Plessner M, Bast CA, Gayer FA, Thoms S, Gallwas J, Wegwitz F. Jansari S, et al. Among authors: thoms s. Cell Commun Signal. 2025 Jul 1;23(1):304. doi: 10.1186/s12964-025-02279-9. Cell Commun Signal. 2025. PMID: 40597205 Free PMC article.
Organelle interplay in peroxisomal disorders.
Thoms S, Grønborg S, Gärtner J. Thoms S, et al. Trends Mol Med. 2009 Jul;15(7):293-302. doi: 10.1016/j.molmed.2009.05.002. Epub 2009 Jun 26. Trends Mol Med. 2009. PMID: 19560974 Review.
50 results