Dr Carles Gaston-Massuet

Carles Gaston-Massuet

Senior Lecturer in Endocrine Genetics

Center of Enodcrinology, William Harvey Research Institute


Endocrinology, Hypothalamus-pituitary axis, genetics, development, tumour biology, endocrine system


Genetics and molecular mechanisms underlying the hypothalmo-pituitary axis development and its link to disease from endocrine deficiencies to tumorigenesis.


Publications of specific relevance to Predictive in vitro Models


Escuin S, Raza-Knight SR, Savery D, Gaston-Massuet C, Galea GL, Greene NDE and Copp AJ (2023). Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse. Dis Model Mech  10.1242/dmm.049858


Rai A, Yelamanchi SD, Radotra BD, Gupta SK, Mukherjee KK, Tripathi M, Chhabra R, Ahuja CK, Kumar N, Pandey A, Korbonits M, Dutta P and Gaston-Massuet C (2022). Phosphorylation of β-catenin at Serine552 correlates with invasion and recurrence of non-functioning pituitary neuroendocrine tumours. Acta Neuropathologica Communications  vol. 10, (1) 10.1186/s40478-022-01441-5
Glaser J, Iranzo J, Borensztein M, Marinucci M, Gualtieri A, Jouhanneau C, Teissandier A, Gaston-Massuet C and Bourc’His D (2022). The imprinted Zdbf2 gene finely tunes control of feeding and growth in neonates. Elife  vol. 11, 10.7554/eLife.65641


Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V, Casado P, Blackburn J, Abollo-Jimenez F, Marinelli E, Besser REJ, Högler W, Karen Temple I, Davies JH, Gagunashvili A, Robinson ICAF, Camper SA, Davis SW, Cutillas PR, Gevers EF, Aoki Y, Dattani MT and Gaston-Massuet C (2021). Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans. Nature Communications  vol. 12, (1) 10.1038/s41467-021-21712-4
Garcia-Rendueles AR, Chenlo M, Oroz-Gonjar F, Solomou A, Mistry A, Barry S, Gaston-Massuet C, Garcia-Lavandeira M, Perez-Romero S, Suarez-Fariña M, Pradilla-Dieste A, Dieguez C, Mehlen P, Korbonits M and Alvarez CV (2021). RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas. Oncogene  vol. 40, (45) 6354-6368. 10.1038/s41388-021-02009-8
Kaygusuz SB, Ates EA, Vignola ML, Volkan B, Geckinli BB, Turan S, Bereket A, Gaston-Massuet C and Guran T (2021). Dysgenesis and dysfunction of the pancreas and pituitary due to FOXA2 gene defects. Journal of Clinical Endocrinology and Metabolism  vol. 106, (10) E4142-E4154. 10.1210/clinem/dgab352
Thomas B, Eldridge S, Nosrati B, Alvarez M, THORUP A-S, Nalesso G, Caxaria S, Barawi A, Nicholson J, Perretti M, Gaston-Massuet C, Pitzalis C, Maloney A, Moore A, Jupp R and Dell'Accio F (2021). WNT3A-loaded exosomes enable cartilage repair. Co-Action Publishing  Journal of Extracellular Vesicles  10.1002/jev2.12088
Correia JC, Corral LG, Kaygusuz SB, Gualtieri A and Gaston-Massuet C (2021). FOXA2 as a Candidate Gene Responsible for Congenital Panhypopituitarism: A Review of the Literature. Journal of The Endocrine Society  vol. 5, (Suppl 1) a529-a529. 10.1210/jendso/bvab048.1077
Oleari R, André V, Lettieri A, Tahir S, Roth L, Paganoni A, Eberini I, Parravicini C, Scagliotti V, Cotellessa L, Bedogni F, De Martini LB, Corridori MV, Gulli S, Augustin HG, Gaston-Massuet C, Hussain K and Cariboni A (2021). A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency. Neuroendocrinology  vol. 111, (5) 421-441. 10.1159/000508375


Crescente M, Armstrong PC, Kirkby NS, Edin ML, Chan MV, Lih FB, Jiao J, Maffucci T, Allan HE, Mein CA, Gaston-Massuet C, Cottrell GS, Mitchell JA, Zeldin DC, Herschman HR and Warner TD (2020). Profiling the eicosanoid networks that underlie the anti- and pro-thrombotic effects of aspirin. Wiley Periodicals Llc  The Faseb Journal  10.1096/fj.202000312R


Kyprianou N, Blackburn J, Tan R, Korbonits M, Dattani M, Dutta P, Bhansali A, Rai A, Ribalta T, Bulfamante GP, Massa V, Roncaroli F, Evanson J, Skoric T, Kastelan D, Gnanalingham K, Mitchell R, Bulfamante AM, Argente J, Goycoolea A, Torales J, Biagetti B, Audi L, Resmini E, Webb SM, Kapoor RR, Chandler C, Sampron N, Preda C and Ahmad A (2019). A novel clinical risk score that accurately predicts recurrence of craniopharyngioma - a multicentre cohort study. Endocrine Abstracts  10.1530/endoabs.66.oc4.4
Mariniello K, Ruiz-Babot G, McGaugh EC, Nicholson JG, Gualtieri A, Gaston-Massuet C, Nostro MC and Guasti L (2019). Stem Cells, Self-Renewal, and Lineage Commitment in the Endocrine System. Frontiers in Endocrinology  vol. 10, 10.3389/fendo.2019.00772
Bollington M, Mistry A, Solomou A, Barry S, Begalli F, Vignola M, Lim CT, Herincs M, Roncaroli F, Gaston-Massuet C and Korbonits M (2019). Transcriptomic analyses reveal deregulation of focal adhesion pathway in Aip KO mice and AIP mutation positive human tumours. Endocrine Abstracts  10.1530/endoabs.65.op6.2
Mistry A, Solomou A, Vignola ML, Lim CT, Herincs M, Caimari F, Costa AI, Begalli F, Gualtieri A, Roncaroli F, Rizzoti K, Gaston-Massuet C and Korbonits M (2019). Investigating the role of AIP in pituitary tumourigenesis. Endocrine Abstracts  10.1530/endoabs.65.oc2.2
Mitchell JA, Shala F, Elghazouli Y, Warner TD, Gaston-Massuet C, Crescente M, Armstrong PC, Herschman HR and Kirkby NS (2019). Cell-Specific Gene Deletion Reveals the Antithrombotic Function of COX1 and Explains the Vascular COX1/Prostacyclin Paradox. American Heart Association  Circulation Research  vol. 125, (9) 847-854. 10.1161/CIRCRESAHA.119.314927
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, DInger M, Buckley M and Roscioli T (2019). Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. Journal of Medical Genetics  vol. 56, (9) 629-638. 10.1136/jmedgenet-2019-106019
Barry S, Carlsen E, Marques P, Stiles CE, Gadaleta E, Berney DM, Roncaroli F, Chelala C, Solomou A, Herincs M, Caimari F, Grossman AB, Crnogorac-Jurcevic T, Haworth O, Gaston-Massuet C and Korbonits M (2019). Tumor microenvironment defines the invasive phenotype of AIP-mutation-positive pituitary tumors. Oncogene  vol. 38, (27) 5381-5395. 10.1038/s41388-019-0779-5
Gregory LC, Ferreira CB, Young-Baird SK, Williams HJ, Harakalova M, van Haaften G, Rahman SA, Gaston-Massuet C, Kelberman D, GOSgene , Qasim W, Camper SA, Dever TE, Shah P, Robinson ICAF and Dattani MT (2019). Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. Ebiomedicine  vol. 42, 470-480. 10.1016/j.ebiom.2019.03.013
MacDougall CE, Wood EG, Solomou A, Scagliotti V, Taketo MM, Gaston-Massuet C, Marelli-Berg FM, Charalambous M and Longhi MP (2019). Constitutive activation of β-catenin in conventional dendritic cells increases the insulin reserve to ameliorate the development of type 2 diabetes in mice. Diabetes  vol. 68, (7) 1473-1484. 10.2337/db18-1243


Macdougall CE, Wood EG, Loschko J, Scagliotti V, Cassidy FC, Robinson ME, Feldhahn N, Castellano L, Voisin MB, Marelli-Berg F, Gaston-Massuet C, Charalambous M and Longhi MP (2018). Visceral Adipose Tissue Immune Homeostasis Is Regulated by the Crosstalk between Adipocytes and Dendritic Cell Subsets. Cell Metabolism  vol. 27, (3) 588-601.e4. 10.1016/j.cmet.2018.02.007
Bettini LR, Graziola F, Fazio G, Grazioli P, Scagliotti V, Pasquini M, Cazzaniga G, Biondi A, Larizza L, Selicorni A, Gaston-Massuet C and Massa V (2018). Rings and bricks: Expression of cohesin components is dynamic during development and adult life. International Journal of Molecular Sciences  vol. 19, (2) 10.3390/ijms19020438


Giri D, Vignola ML, Gualtieri A, Scagliotti V, McNamara P, Peak M, Didi M, Gaston-Massuet C and Senniappan S (2017). Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endodermderived organ abnormalities. Human Molecular Genetics  vol. 26, (22) 4315-4326. 10.1093/hmg/ddx318
Kyprianou N, Gregory L, Vignola ML, Marinelli E, Gualtieri A, Scagliotti V, Davis S, Casado P, Rajeeve V, Cutillas P, Gevers E, Dattani M and Gaston-Massuet C (2017). The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF Cause Congenital hypopituitarism. Endocrine Abstracts  10.1530/endoabs.51.oc4.4
Giri D, Vignola ML, Gualtieri A, Scagliotti V, McNamara P, Peak M, Didi M, Gaston-Massuet C and Senniappan S (2017). Novel FOXA2 mutation causes hyperinsulinism, hypopituitarism with craniofacial dysmorphism and endoderm-derived organ abnormalities. Endocrine Abstracts  10.1530/endoabs.51.oc4.3
Solomou A, Herincs M, Roncaroli F, Vignola ML, Gaston-Massuet C and Korbonits M (2017). Investigating the role of AIP in mouse pituitary adenoma formation. Endocrine Abstracts  10.1530/endoabs.50.oc1.6
Barry S, Solomou A, Vignola L, Collier D, Carlsen E, Gadaleta E, Berney DM, Chelala C, Crnogorac-Jurcevic T, Gaston-Massuet C and Korbonits M (2017). A comprehensive analysis of the AIP mutation positive pituitary tumour microenvironment: role of stromal cells and the pro-inflammatory cytokine network. Endocrine Abstracts  10.1530/endoabs.50.p274
Kyprianou N, Gregory L, Lillina VM, Besser R, Marinelli E, Gualtieri A, Scagliotti V, Davis S, Gevers E, Dattani M and Gaston-Massuet C (2017). The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF cause congenital hypopituitarism. Endocrine Abstracts  10.1530/endoabs.50.oc5.6
Jimenez F, Gualtieri A, Scagliotti V and Gaston-Massuet C (2017). Ephrin-B2 is required for pituitary development. Endocrine Abstracts  10.1530/endoabs.49.oc8.5


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 and Massa V (2016). CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. Journal of Cellular Physiology  vol. 231, (3) 613-622. 10.1002/jcp.25106
Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu CI, Bancalari RE, Rahikkala E, Veijola R, Lopponen T, Graziola F, Turton J, Signore M, Gharavy SNM, Charolidi N, Sokol SY, Andoniadou CL, Wilson SW, Merrill BJ, Dattani MT and Martinez-Barbera JP (2016). Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans. Proceedings of The National Academy of Sciences of The United States of America  vol. 113, (5) E548-E557. 10.1073/pnas.1503346113
Scagliotti V, Avagliano L, Gualtieri A, Graziola F, Doi P, Chalker J, Righini A, Korbonits M, Bulfamante G, Jacques TS, Massa V and Gaston-Massuet C (2016). Histopathology and molecular characterisation of intrauterine-diagnosed congenital craniopharyngioma. Pituitary  vol. 19, (1) 50-56. 10.1007/s11102-015-0682-1
Avagliano L, Doi P, Tosi D, Scagliotti V, Gualtieri A, Gaston-Massuet C, Pistocchi A, Gallina A, Marconi AM, Bulfamante G and Massa V (2016). Cell death and cell proliferation in human spina bifida. Birth Defects Research Part a - Clinical and Molecular Teratology  vol. 106, (2) 104-113. 10.1002/bdra.23466


McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A, Hughes I, Townshend S, Martinez-Barbera JP, Bouloux PM and Dattani MT (2015). Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). Molecular and Cellular Endocrinology  vol. 417, 63-72. 10.1016/j.mce.2015.09.010
Gregory LC, Gaston-Massuet C, Andoniadou CL, Carreno G, Webb EA, Kelberman D, McCabe MJ, Panagiotakopoulos L, Saldanha JW, Spoudeas HA, Torpiano J, Rossi M, Raine J, Canham N, Martinez-Barbera JP and Dattani MT (2015). The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Clin Endocrinol (Oxf)  vol. 82, (5) 728-738. 10.1111/cen.12637


Gevers EF, Gaston-Massuet C and de Roux N (2014). Pituitary and Neuroendocrinology. Yearbook of Pediatric Endocrinology 2014  10.1159/000365365


Andoniadou CL, Matsushima D, Mousavy Gharavy SN, Signore M, Mackintosh AI, Schaeffer M, Gaston-Massuet C, Mollard P, Jacques TS, Le Tissier P, Dattani MT, Pevny LH and Martinez-Barbera JP (2013). Sox2(+) stem/progenitor cells in the adult mouse pituitary support organ homeostasis and have tumor-inducing potential. Cell Stem Cell  vol. 13, (4) 433-445. 10.1016/j.stem.2013.07.004
Gevers EF, Gaston-Massuet C and Dattani MT (2013). Pituitary. Yearbook of Pediatric Endocrinology 2013  10.1159/000353829
McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto K-H, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera J-P and Dattani MT (2013). Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab  vol. 98, (3) E547-E557. 10.1210/jc.2012-3067


Jayakody SA, Andoniadou CL, Gaston-Massuet C, Signore M, Cariboni A, Bouloux PM, Le Tissier P, Pevny LH, Dattani MT and Martinez-Barbera JP (2012). SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest  vol. 122, (10) 3635-3646. 10.1172/JCI64311
Gevers EF, Gaston-Massuet C and Dattani MT (2012). Pituitary. Yearbook of Pediatric Endocrinology 2012  10.1159/000341201
Andoniadou CL, Gaston-Massuet C, Reddy R, Schneider RP, Blasco MA, Le Tissier P, Jacques TS, Pevny LH, Dattani MT and Martinez-Barbera JP (2012). Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathol  vol. 124, (2) 259-271. 10.1007/s00401-012-0957-9


Andoniadou CL, Signore M, Young RM, Gaston-Massuet C, Wilson SW, Fuchs E and Martinez-Barbera JP (2011). HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrain. Development  vol. 138, (22) 4931-4942. 10.1242/dev.066597
McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, Signore M, Puelles E, Gerrelli D, Farooqi IS, Raza J, Walker J, Kavanaugh SI, Tsai P-S, Pitteloud N, Martinez-Barbera J-P and Dattani MT (2011). Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab  vol. 96, (10) E1709-E1718. 10.1210/jc.2011-0454
GASTON MASSUET JC, Andoniadou CL, Signore M, Jayakody SA, Charolidi N, Kyeyune R, Vernay B, Jacques TS, Taketo MM, Le Tissier P, Dattani MT and Martinez-Barbera JP (2011). Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proc Natl Acad Sci U S a.  vol. 108, (28) 11482-11487. 10.1073/pnas.1101553108


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. Developmental Cell  vol. 19, (1) 126-137. 10.1016/j.devcel.2010.06.003


Gaston-Massuet C, Kelberman D, Dattani M and Martinez-Barbera JP (2009). Absence of SIX3 mutations in patients with congenital hypopituitarism. Am J Med Genet A  vol. 149A, (12) 2874-2876. 10.1002/ajmg.a.33103
GREENE NDE, COPP AJ, PAUWS E, STANIER P, PHILPOTT A, BROS V, FLENNIKEN A, SCHIAVO G, FISHER E, GREENSMITH L, HAFEZPARAST M, YU W-Y, MILETICH I, BUCHNER G, SHARPE PT, DE CASTRO SCP, SAVERY D, GUSTAVSSON P, LEUNG K-Y, FIELD S, BOGANI D, SIGGERS P, GREENFIELD A, NORRIS D, YAGUCHI Y, YU T, AHMED MU and GAIT M (2009). Abstracts of papers presented at the nineteenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 20 and 21 November 2008. Genetics Research  vol. 91, (2) 133-141. 10.1017/s0016672309000044
Massa V, Ybot-Gonzalez P, Savery D, Gaston-Massuet C, Greene NE and Copp AJ (2009). Role of Zic2 in mammalian neural tube closure. Genetics Research  vol. 91, (2) 140-140.


Gaston-Massuet C, Andoniadou CL, Signore M, Sajedi E, Bird S, Turner JMA and Martinez-Barbera JP (2008). Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development. Dev Biol  vol. 324, (2) 322-333. 10.1016/j.ydbio.2008.08.008
Sajedi E, Gaston-Massuet C, Signore M, Andoniadou CL, Kelberman D, Castro S, Etchevers HC, Gerrelli D, Dattani MT and Martinez-Barbera JP (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  vol. 1, (4-5) 241-254. 10.1242/dmm.000711
Sajedi E, Gaston-Massuet C, Andoniadou CL, Signore M, Hurd PJ, Dattani M and Martinez-Barbera JP (2008). DNMT1 interacts with the developmental transcriptional repressor HESX1. Biochim Biophys Acta  vol. 1783, (1) 131-143. 10.1016/j.bbamcr.2007.08.010


Ybot-Gonzalez P, Gaston-Massuet C, Girdler G, Klingensmith J, Arkell R, Greene NDE and Copp AJ (2007). Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signalling. Development  vol. 134, (17) 3203-3211. 10.1242/dev.008177
ROMIO L, CASTRO S, LOPES C, HAMES R, FEATHER SA, FRY AM, WILSON SW, WOOLF AS, STEVENS J, ERMAKOV A, BRAGANCA J, HILTON H, UNDERHILL P, BHATTACHARYA S, BROWN N, NORRIS D, SEPPALA M, FAN C-M, DEPEW M, SHARPE P, COBOURNE M, ANDONIADOU C, SIGNORE M, SAJEDI E, GASTON-MASSUET C, BARBERA JPM, COMPAGNUCCI C, DEPEW MJ, CATON J and ZOUPPA M (2007). Abstracts of papers presented at the seventeenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 9 and 10 November 2006. Genetics Research  vol. 89, (3) 181-188. 10.1017/s0016672307008804
Andoniadou CL, Signore M, Sajedi E, Gaston-Massuet C, Kelberman D, Burns AJ, Itasaki N, Dattani M and Martinez-Barbera JP (2007). Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. Development  vol. 134, (8) 1499-1508. 10.1242/dev.02829


Gaston-Massuet C, Henderson DJ, Greene NDE and Copp AJ (2005). Zic4, a zinc-finger transcription factor, is expressed in the developing mouse nervous system. Dev Dyn  vol. 233, (3) 1110-1115. 10.1002/dvdy.20417


Murdoch JN, Henderson DJ, Doudney K, Gaston-Massuet C, Phillips HM, Paternotte C, Arkell R, Stanier P and Copp AJ (2003). Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet  vol. 12, (2) 87-98. 10.1093/hmg/ddg014


Grants of specific relevance to Predictive in vitro Models
Understanding the chemo-protective effect of non steroidal anti-inflmatory drugs in cranipharygioma tumours
Gaston Massuet JC
£199,000 Action Medical Research for Sick Children (01-03-2015 - 01-03-2019)
The effect of AIP mutations on the apoptotic RET pathway in pituitary adenomas
Korbonits M, Gaston Massuet JC and Alvarez CV
£408,115 Medical Research Council (31-08-2015 - 30-08-2018)