Gene regulation and morphogenesis

Cis-regulatory landscape dynamics in development and disease

Five relevant publications

  • Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg JH, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannavò S, Pétrossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Medicine. (09/2024) 13;16(1):112. doi: 10.1186/s13073-024-01378-5.
  • Franke M, Daly AF, Palmeira L, Tirosh A, Stigliano A, Trifan E, Faucz FR, Abboud D, Petrossians P, Tena JJ, et al.: Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism. The American Journal of Human Genetics (02/2022), 109:553–570.
     
  • Franke M, de la Calle-Mustienes, E., Neto, A., Almuedo-Castillo, M., Irastorza-Azcarate, I., Acemel, R. D., Tena, J. J., Santos-Pereira, J. M., & Gómez-Skarmeta, J. L. (2021). CTCF knockout in zebrafish induces alterations in regulatory landscapes and developmental gene expression. Nature Communications (09/2021) 12:1, 12(1), 1–19. https://doi.org/10.1038/s41467-021-25604-5
  • Martin Franke, José Luis Gómez-Skarmeta: An evolutionary perspective of regulatory landscape dynamics in development and disease. Current Opinion in Cell Biology (07/2018); 55., DOI:10.1016/j.ceb.2018.06.009
     
  • Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Bernd Timmermann, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Stefan Mundlos: Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature (10/2016); 538 (7624). DOI: 10.1038/nature19800
 

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