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Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B. Bonnin E, et al. Among authors: juhlen r. PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30543681 Free PMC article.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM. Ravindran E, et al. Among authors: juhlen r. Hum Mol Genet. 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. Hum Mol Genet. 2021. PMID: 34170319 Free PMC article.
Mitotic disassembly and reassembly of nuclear pore complexes.
Kutay U, Jühlen R, Antonin W. Kutay U, et al. Among authors: juhlen r. Trends Cell Biol. 2021 Dec;31(12):1019-1033. doi: 10.1016/j.tcb.2021.06.011. Epub 2021 Jul 19. Trends Cell Biol. 2021. PMID: 34294532 Free article. Review.
Stretching on chromosomes sheds light on their architecture.
Jühlen R, Antonin W. Jühlen R, et al. Signal Transduct Target Ther. 2022 Aug 23;7(1):295. doi: 10.1038/s41392-022-01141-5. Signal Transduct Target Ther. 2022. PMID: 35999202 Free PMC article. No abstract available.
18 results