Publications

https://researchpublications.qmul.ac.uk//publications/staff/31313.html 

 

• Giri D, Vignola ML, Gualtieri A, Scagliotti V, McNamara P, Peak M, Didi M, Gaston-Massuet C, and Senniappan S. Novel FOXA2 Mutation Causes Hyperinsulinism, Hypopitutarism with Craniofacial and Endoderm-Derived Organ Abnormalities. Human molecular genetics.
• Gaston-Massuet, C., McCabe, M.J., Scagliotti. V.,  Gregory L, An ChWu., Jaques, T.S., Gerrelli, D., Farooqi, I.S., Raza, J., Dattani, M.T., Martinez-Barbera, J.P. Transcription factor 7-like 1 is involved in hypothalamic pituitary axis development in mice and humans. Proc Natl Acad Sci USA 2011. 2016 Feb 2;113 (5):E548-57. 
• Scagliotti, V., Avagliano, L., Graziola, F., Gualtieri, A., Doi., P, Buftamante, G., Jacques TS.,Korbonits, M, Massa V,Gaston-Massuet, C. Histopatological and molecular characterisation of a new form of  intrauterine diagnosed congenital Craniopharyngioma. Pituitary September. 2635026. 
• Avagliano L, Doi P, Tosi D, Scagliotti V, Gualtieri A, Gaston-Massuet C, Pistocchi A, Gallina A, Marconi AM, Bulfamante G, Massa V.Cell death and cell proliferation in human spina bifida. Birth Defects Res A Clin Mol Teratol. 2015 Dec 10. doi: 10.1002/bdra.23466. 
• Fazio G*, Gaston-Massuet C*, Bettini LR, Graziola F, Scagliotti V, Cereda A, Ferrari L, Mazzola M, Cazzaniga G, Giordano A, Cotelli F, Bellipanni G, Biondi A, Selicorni A, Pistocchi A, Massa V. CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. J Cell Physiol. 2016 Mar;231(3):613-22. * Co-joint first author
• Gregory, L. C., Gaston-Massuet, C., Andoniadou, C. L., Carreno, G., Webb, E. A., Kelberman, D., McCabe, M. J., Panagiotakopoulos, L., Saldanha, J. W., Spoudeas, H. A., Torpiano, J., Rossi, M., Raine, J., Canham, N., Martinez-Barbera, J. P., and Dattani, M. T. (2014) The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clinical endocrinology 
• McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzouglou Ks, Saladanha JW, Gualtierri A, Thankomony A, Huges I, Townshend S, Martinez-Barbera JP, Bouloux PM, Dattani MT. Novel application of liciferase assay for the in vitro functional assessment of KAL1 variants in three female with speto-optic dysplasia.  Mol Cell Endo 2015 Dec 5;417:63-72. 
• Andoniadou, C. L., Matsushima, D., Mousavy Gharavy, S. N., Signore, M., Mackintosh, A. I., Schaeffer, M., Gaston-Massuet, C., Mollard, P., Jacques, T. S., Le Tissier, P., Dattani, M. T., Pevny, L. H., and Martinez-Barbera, J. P. (2013) Sox2(+) stem/progenitor cells in the adult mouse pituitary support organ homeostasis and have tumor-inducing potential. Cell stem cell 13, 433-445
• Gaston-Massuet, C*., McCabe, M. J*., Gregory, L. C., Alatzoglou, K. S., Tziaferi, V., Sbai, O., Rondard, P., Masumoto, K. H., Nagano, M., Shigeyoshi, Y., Pfeifer, M., Hulse, T., Buchanan, C. R., Pitteloud, N., Martinez-Barbera, J. P., and Dattani, M. T. (2013) Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J.Clin.Endocrinol.Metabolism 98, E547-557 *Equal Contribution.  
• Jayakody, S. A., Andoniadou, C. L., Gaston-Massuet, C., Signore, M., Cariboni, A., Bouloux, P. M., Le Tissier, P., Pevny, L. H., Dattani, M. T., and Martinez-Barbera, J. P. (2012) SOX2 regulates the hypothalamic-pituitary axis at multiple levels. The Journal of clinical investigation 122, 3635-3646
• Andoniadou, C. L., Gaston-Massuet, C., Reddy, R., Schneider, R. P., Blasco, M. A., Le Tissier, P., Jacques, T. S., Pevny, L. H., Dattani, M. T., and Martinez-Barbera, J. P. (2012) Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta neuropathologica 124, 259-271
• Andoniadou, C. L., Signore, M., Sajedi, E., Gaston-Massuet, C., Kelberman, D., Burns, A. J., Itasaki, N., Dattani, M., and Martinez-Barbera, J. P. (2007) Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. Development 134, 1499-1508
• Gaston-Massuet, C*., McCabe, M*. J., Tziaferi, V., Gregory, L. C., Alatzoglou, K. S., Signore, M., Puelles, E., Gerrelli, D., Farooqi, I. S., Raza, J., Walker, J., Kavanaugh, S. I., Tsai, P. S., Pitteloud, N., Martinez-Barbera, J. P., and Dattani, M. T. (2011) Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J.Clin.Endocrinol.Metab 96, E1709-E1718 * equal contribution
• Gaston-Massuet, C*., Andoniadou, C. L*., Signore, M., Jayakody, S. A., Charolidi, N., Kyeyune, R., Vernay, B., Jacques, T. S., Taketo, M. M., Le Tissier, P., Dattani, M. T., and Martinez-Barbera, J. P. (2011) Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proc Natl Acad Sci USA 2011 July 108, 11482-11487* equal contribution.
• Sottocornola, R., Royer, C., Vives, V., Tordella, L., Zhong, S., Wang, Y., Ratnayaka, I., Shipman, M., Cheung, A., Gaston-Massuet, C., Ferretti, P., Molnar, Z., and Lu, X. (2010) ASPP2 binds Par-3 and controls the polarity and proliferation of neural progenitors during CNS development. Dev.Cell 19, 126-137
• Gaston-Massuet, C., Kelberman, D., Dattani, M., and Martinez-Barbera, J. P. (2009) Absence of SIX3 mutations in patients with congenital hypopituitarism. Am.J.Med.Genet.A 149A, 2874-2876 
• Sajedi, E., Gaston-Massuet, C., Signore, M., Andoniadou, C. L., Kelberman, D., Castro, S., Etchevers, H. C., Gerrelli, D., Dattani, M. T., and Martinez-Barbera, J. P. (2008) Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. Dis.Model.Mech. 1, 241-254
• Sajedi, E., Gaston-Massuet, C., Andoniadou, C. L., Signore, M., Hurd, P. J., Dattani, M., and Martinez-Barbera, J. P. (2008) DNMT1 interacts with the developmental transcriptional repressor HESX1. Biochimica et biophysica acta 1783, 131-143
• Ybot-Gonzalez, P., Gaston-Massuet, C., Girdler, G., Klingensmith, J., Arkell, R., Greene, N. D., and Copp, A. J. (2007) Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signalling. Development 134, 3203-3211
• Andoniadou, C. L., Signore, M., Sajedi, E., Gaston-Massuet, C., Kelberman, D., Burns, A. J., Itasaki, N., Dattani, M., and Martinez-Barbera, J. P. (2007) Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. Development 134, 1499-1508
• Andoniadou, C. L., Signore, M., Young, R. M., Gaston-Massuet, C., Wilson, S. W., Fuchs, E., and Martinez-Barbera, J. P. (2011) HESX1- and TCF3-mediated repression of Wnt/beta-catenin targets is required for normal development of the anterior forebrain. Development 138, 4931-4942 
• Gaston-Massuet, C., Henderson, D. J., Greene, N. D., and Copp, A. J. (2005) Zic4, a zinc-finger transcription factor, is expressed in the developing mouse nervous system. Dev.Dyn. 233, 1110-1115 
• Murdoch, J. N., Henderson, D. J., Doudney, K., Gaston-Massuet, C., Phillips, H. M., Paternotte, C., Arkell, R., Stanier, P., and Copp, A. J. (2003) Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum.Mol.Genet. 12, 87-98

* Equal contribution