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GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U. Egerer J, et al. Among authors: chan wl. J Invest Dermatol. 2015 Oct;135(10):2368-2376. doi: 10.1038/jid.2015.192. Epub 2015 May 22. J Invest Dermatol. 2015. PMID: 26000619 Free article.
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
Chan WL, Steiner M, Witkos T, Egerer J, Busse B, Mizumoto S, Pestka JM, Zhang H, Hausser I, Khayal LA, Ott CE, Kolanczyk M, Willie B, Schinke T, Paganini C, Rossi A, Sugahara K, Amling M, Knaus P, Chan D, Lowe M, Mundlos S, Kornak U. Chan WL, et al. Among authors: chan d. PLoS Genet. 2018 Mar 21;14(3):e1007242. doi: 10.1371/journal.pgen.1007242. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29561836 Free PMC article.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M. Huang X, et al. Among authors: chan wl. Nature. 2023 Nov;623(7988):772-781. doi: 10.1038/s41586-023-06548-w. Epub 2023 Nov 15. Nature. 2023. PMID: 37968388 Free PMC article.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Spielmann M, et al. Among authors: chan wl. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11. Genome Res. 2016. PMID: 26755636 Free PMC article.
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis.
Kragesteen BK, Spielmann M, Paliou C, Heinrich V, Schöpflin R, Esposito A, Annunziatella C, Bianco S, Chiariello AM, Jerković I, Harabula I, Guckelberger P, Pechstein M, Wittler L, Chan WL, Franke M, Lupiáñez DG, Kraft K, Timmermann B, Vingron M, Visel A, Nicodemi M, Mundlos S, Andrey G. Kragesteen BK, et al. Among authors: chan wl. Nat Genet. 2018 Oct;50(10):1463-1473. doi: 10.1038/s41588-018-0221-x. Epub 2018 Sep 27. Nat Genet. 2018. PMID: 30262816 Free PMC article.
462 results