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Page 1
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Lupiáñez DG, et al. Among authors: franke m. Cell. 2015 May 21;161(5):1012-1025. doi: 10.1016/j.cell.2015.04.004. Epub 2015 May 7. Cell. 2015. PMID: 25959774 Free PMC article.
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: franke m. Nat Commun. 2023 Mar 17;14(1):1475. doi: 10.1038/s41467-023-37057-z. Nat Commun. 2023. PMID: 36928426 Free PMC article.
Gain of gene regulatory network interconnectivity at the origin of vertebrates.
Gil-Gálvez A, Jiménez-Gancedo S, Pérez-Posada A, Franke M, Acemel RD, Lin CY, Chou C, Su YH, Yu JK, Bertrand S, Schubert M, Escrivá H, Tena JJ, Gómez-Skarmeta JL. Gil-Gálvez A, et al. Among authors: franke m. Proc Natl Acad Sci U S A. 2022 Mar 15;119(11):e2114802119. doi: 10.1073/pnas.2114802119. Epub 2022 Mar 9. Proc Natl Acad Sci U S A. 2022. PMID: 35263228 Free PMC article.
Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.
Franke M, Daly AF, Palmeira L, Tirosh A, Stigliano A, Trifan E, Faucz FR, Abboud D, Petrossians P, Tena JJ, Vitali E, Lania AG, Gómez-Skarmeta JL, Beckers A, Stratakis CA, Trivellin G. Franke M, et al. Am J Hum Genet. 2022 Apr 7;109(4):553-570. doi: 10.1016/j.ajhg.2022.02.002. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202564 Free PMC article.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Socha M, Sowińska-Seidler A, Melo US, Kragesteen BK, Franke M, Heinrich V, Schöpflin R, Nagel I, Gruchy N, Mundlos S, Sreenivasan VKA, López C, Vingron M, Bukowska-Olech E, Spielmann M, Jamsheer A. Socha M, et al. Among authors: franke m. Am J Hum Genet. 2021 Sep 2;108(9):1725-1734. doi: 10.1016/j.ajhg.2021.08.001. Epub 2021 Aug 24. Am J Hum Genet. 2021. PMID: 34433009 Free PMC article.
21 results