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Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing.
Aalders J, Léger L, Demolder A, Muiño Mosquera L, Coucke P, Menten B, De Backer J, van Hengel J. Aalders J, et al. Among authors: coucke p. Stem Cell Res. 2023 Mar;67:103036. doi: 10.1016/j.scr.2023.103036. Epub 2023 Jan 25. Stem Cell Res. 2023. PMID: 36724552 Free article.
Assisted oocyte activation does not overcome recurrent embryo developmental problems.
Cardona Barberán A, Bonte D, Boel A, Thys V, Paredis R, Machtelinckx F, De Sutter P, De Croo I, Leybaert L, Stoop D, Coucke P, Vanden Meerschaut F, Heindryckx B. Cardona Barberán A, et al. Among authors: coucke p. Hum Reprod. 2023 May 2;38(5):872-885. doi: 10.1093/humrep/dead051. Hum Reprod. 2023. PMID: 36931261
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
531 results