Gene regulation and morphogenesis

Full Publication List

  1. Franch-Expósito, S., Esteban-Jurado, C., Garre, P., et al., (2018) Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis. Journal of Genetics and Genomics, in press.
  2. Vicente-García, C; Villarejo_Balcells, B; Irastorza-Azcárate. I; Naranjo, S; Acemel, R. D.; Tena, J. J.; Rigby, P. W. J.; Devos, D. P.; Gómez-Skarmeta, J. L.; Carvajal, J. J. (2017) Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements. Genome Biology, 18: 106. 
  3. Moretti, I; Ciciliot, S; Dyar, K A; Abraham, R; Murgia, M; Agatea, L; Akimoto, T; Bicciato, S; Forcato, M; Pierre, P; Uhlenhaut, N H; Rigby, P W J; Carvajal, J J; Blaauw, G; Calabria, E; Schiaffino, S. (2016) MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity. Nature Communications, 7: 12397.
  4. Naldaiz-Gastesi, N.; Goicoechea, M.; Alonso-Martín, S.; Aiastui, A.; López-Mayorga, M.; García-Belda, P.; Lacalle, J.; San José, C.; Araúzo-Bravo, M. J.; Trouilh, L.; Anton-Leberre, V.; Herrero, D.; Matheu, A.; Bernad, A.; García-Verdugo, J. M.; Carvajal, J. J.; Relaix, F.; Lopez de Munain, A.; García-Parra, P.; Izeta, A. (2016) Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells. Stem Cell Reports, 7: 411-24.
  5. Muñoz-Cánoves, P.; Carvajal, J. J.; Lopez de Munain, A.; Izeta, A. (2016) Editorial: Role of Stem Cells in Skeletal Muscle Development, Regeneration, Repair, Aging, and Disease. Front Aging Neurosciences, 8: 95.
  6. Gómez-Marín, C.; Tena, J.J.; Acemel, R.D.; López-Mayorga, M.; Naranjo, S.; de la Calle-Mustiens, E.; Maeso, I.; Beccari, L.; Aneas, I.; Vielmas, E.; Bovolenta, P.; Nobrega, M.; Carvajal, J.J.; Gómez-Skarmeta, J.L. (2015) Evolutionary comparison reveals that diverging CTCF sites are signatures of ancestral topological associating domains borders. Proc Natl Acad Sci USA, 112: 7542-7.
  7. Lagutina I, Valentine V, Picchione F, Valentine MB, Villarejo-Balcells B, Carvajal JJ, Grosveld GC. Modeling of the human alveolar rhabdomyosarcoma Pax3-Foxo1 chromosome translocation in mouse myoblasts using CRISPR-Cas9 nuclease, (2015) PLOS Genetics, 11: e1004951.
  8. Lewis, A.; Freeman-Mills, L.; de la Calle-Mustienes, E.; Giráldez-Pérez, R. M.; Davis, H.; Jaeger, E.; Becker, M.; Hubner, N.; Nguyen, L.; Zeron-Medina, J.; Bond, G.; Stunnenberg, H.; Carvajal, J. J.; Skarmeta, J. L.; Leedham, S.; Tomlinson, I.A, Polymorphic Enhancer near GREM1 Influences Bowel Cancer Risk through Differential CDX2 and TCF7L2 Binding. (2014) Cell Reports, 8:  983 - 990.
  9. Tena, J. J., González-Aguilera, C., Fernández-Miñán, A., Parra-Acero, H., Cross, J. W., Rigby, P. W. J., Carvajal, J. J., Wittbrodt, J., Gómez-Skarmeta, J. L., Martínez-Morales, J. R. Comparative epigenomics in distantly related teleost species identifies conserved cis- regulatory nodes active during the vertebrate phylotypic period, (2014) Genome Research, 24: 1075-1085. 
  10. Bessa, J., Luengo, M., Rivero-Gil, S., Ariza-Cosano, A., Maia, A. H. F., Ruiz-Ruano, F. J., Caballero, P., Naranjo, S., Carvajal, J. J. and Gómez-Skarmeta, J. L. A mobile insulator system to detect and disrupt cis-regulatory landscapes in vertebrates, (2014) Genome Research, 24: 487-95.
  11. Schraml, B. U., van Blijswijk, J., Zelenay, S., Whitney, P. G., Acton, S. E., Filby, A., Rogers, N. C., Moncaut, N., Carvajal, J. J., Reis e Sousa, C. (2013) A model for lineage tracing of dendritic cells in mice. Cell, 154: 843-858.
  12. Moncaut, N., Rigby, P. W. J., Carvajal, J. J. (2013) Dial M(RF) for myogenesis. FEBS J., 280: 3980-3990.
  13. Harel, I., Maezawa, Y., Avraham, R., Rinon, A., Ma, H., Cross, J. W., Leviatan, N., Hegesh, J. T., Roy, A., Jacob-Hirsch, J., Rechavi, G., Carvajal, J. J., Tole, S., Kioussi, C., Quaggin, S., and Tzahor, E. (2012) Pharyngeal mesoderm regulatory network controls cardiac and head muscle morphogenesis. Proc Natl Acad Sci U S A, 109: 18839-44.
  14. Soleimani, V. D., Punch, V. G., Kawabe, Y., Jones, A. E., Carvajal, J. J., Palidwor, G., Porter, C. J., Kockx, C. E. M., van IJcken, W. F. J., Perkins, T. J., Rigby, P. W. J., Grosveld, F., and Rudnicki, M. A. (2012) Transcriptional dominance of Pax7 in adult myogenesis is due to high-affinity recognition of homeodomain motifs. Developmental Cell, 22: 1208-1220.
  15. Moncaut, N., Cross, J. W., Siligan, C., Keith, A., Taylor, K., Rigby, P. W. J., Carvajal, J. J. (2012) Musculin and TCF21 coordinate the maintenance of myogenic regulatory factor expression levels during mouse craniofacial development. Development, 139: 958-67.
  16. Ribas, R., Moncaut, N., Siligan, C., Taylor, K., Cross, J. W., Rigby, P. W. J., Carvajal, J. J. (2011) Members of the TEAD family of transcription factors regulate the expression of Myf5 in ventral somitic compartments. Dev. Biol. 355: 372-380.
  17. Villarejo-Balcells, B., Rigby, P. W. J., and Carvajal, J. J. (2011) Expression pattern of the FoxO1 gene during embryonic development. Gene Expr. Patterns 11: 299-308.
  18. Coy, S., Caamaño, J. H., Carvajal, J. J., Cleary, M.L., and Borycki A. G. (2011) A novel Gli3 enhancer controls the Gli3 spatiotemporal expression pattern through a TALE homeodomain protein binding site. Mol. Cell. Biol. 31: 1432-1443.
  19. Carvajal, J. J., and Rigby, P. W. J. (2010) Regulation of gene expression in vertebrate skeletal muscle. Exp. Cell Res. 316: 3014-3018
  20. Palles, C., Johnson, N., Coupland, B., Taylor, C., Carvajal, J., Holly, J., Fentiman, I., dos Santos Silva, I., Ashworth, A., Peto, J., and Fletcher, O. (2008) Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy. Hum. Mol. Genet. 17: 1457-1464.
  21. Carvajal, J. J., Keith, A., and Rigby, P. W. J. (2008) Global transcriptional regulation of the locus encoding the skeletal muscle determination genes Mrf4 and Myf5. Genes Dev., 22: 265-276.
  22. Hinits, Y., Osborn, D. P., Carvajal, J. J., Rigby, P. W., and Hughes, S. M. (2007) Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle. Gene Expr. Patterns, 7: 738-745.
  23. Oustanina, S., Carvajal, J. J., Braun, T. (2007) The myogenic factor Myf5 supports efficient skeletal muscle regeneration by enabling transient myoblast amplification. Stem Cells, 25: 2006 -2016.
  24. Zammit, P. S., Carvajal, J. J., Golding, J. P., Morgan, J. E., Summerbell, D., Partridge, T. A., Rigby, P. W. J. and Beauchamp, J. R. (2004) Myf5 expression in adult muscle spindles and satellite cells is controlled by separate genetic elements. Dev Biol, 273: 454-465.
  25. Hadchouel, J., Carvajal, J. J., Daubas, P., Bajard, L., Rocancourt, D., Cox, D., Summerbell, D., Tajbakhsh, S., Rigby, P. W. J. and Buckingham, M. (2003) Analysis of a key regulatory region upstream of the Myf5 gene reveals multiple phases of myogenesis, orchestrated at each site by elements dispersed throughout the locus. Development, 130: 3415-3426.
  26. Carvajal, J. J., Cox, D., Summerbell, D. and Rigby, P. W. J. (2001) A BAC transgenic analysis of the Mrf4 /Myf5 locus reveals interdigitated elements which control activation and maintenance of gene expression during muscle development. Development 128: 1857-1868.
  27. Carvajal, J. J., Cox, D., Summerbell, D. and Rigby, P. W. J. (2001) Control of the expression of the Mrf4 and Myf5 genes: a BAC transgenic approach. Int. J. Dev Biol. 45: S139-S140
  28. Schneider, H., Groves, M., Mühle, C., Reynolds, P., Knight, A., Themis, M., Carvajal, J., Scaravilli, F., Curiel, D., Fairweather, N. and Coutelle, C. (2000) Retargeting of Adenoviral vectors to neurons using the Hc fragment of tetanus toxin. Gene Therapy 7: 1584-1592
  29. Carvajal, J., Knight, A., Schneider, H., Coutelle, C., Chamberlain S. and Fairweather, N. (1999) Non-viral neuronal gene delivery mediated by the Hc fragment of tetanus toxin. Eur. J. Biochem 259: 762-769.
  30. Pook, M.A., Carvajal, J., Doudney, K., Hillermann, R. and Chamberlain, S. (1997) Exon-intron structure of a 2.7kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity. Genomics 42: 170-172.
  31. Carvajal, J., Pook, M. A., Dos Santos, M., Doudney, K., Hillermann, R., Minogue, S., Williamson, R., Hsuan, J. and Chamberlain, S. (1996) The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet. 14: 157-162
  32. Hillermann, R., Chee G. S., Pook, M.A., Wilkes, D., Carvajal, J., Doudney, K., Williamson, R. and Chamberlain, S. (1995) Physical evidence for the position of the Friedreich's ataxia locus proximal to D9S5. Cytogenet Cell Genet. 71: 214-216
  33. Carvajal, J., Pook, M.A., Doudney, K., Hillermann, R., Wilkes, D., Al-Mahdawi, S., Williamson, R. and Chamberlain, S. (1995) Friedreich's ataxia: a defect in signal transduction? Hum Mol Genet. 4: 1411-1419
  34. Carvajal, J. DNA radio-labelling and detection. In: Gene Probes: A Practical Approach. (B. D. Hames and S. Higgins, ed.). IRL Press, Oxford, 1995.
  35. Chamberlain, S., Farrall, M., Shaw, J., Wilkes, D., Carvajal, J., Doudney, K., Hillermann, R., Harding, A.E. and Williamson, R. (1993) Genetic recombination events which position the Friedreich's ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet. 52: 99-109.
  36. Chamberlain, S., Shaw, J., Wilkes, D., Carvajal, J., Doudney, K., Hillermann, R. and Williamson, R. Molecular analysis of the Friedreich's ataxia locus. In: Ataxias y paraplejias hereditarias. IX congreso nacional de neurología. Santander. Ediciones Ergon, 1993.
  37. Chamberlain, S., Shaw, J., Wilkes, D., Wallis, J., Carvajal, J., Fujita, R., Mandel, J.L., Farrall, M. and Williamson, R. (1991) Recombination events positioning the Friedreich's ataxia locus in close proximity to D9S15. Cytogenet Cell Genet. 58: 3-4 (27514).

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