Dr Carles Gaston-Massuet
Senior Lecturer in Endocrine Genetics
SMD
Center of Enodcrinology, William Harvey Research Institute
Center of Enodcrinology, William Harvey Research Institute
Research
Endocrinology, Hypothalamus-pituitary axis, genetics, development, tumour biology, endocrine system
Interests
Genetics and molecular mechanisms underlying the hypothalmo-pituitary axis development and its link to disease from endocrine deficiencies to tumorigenesis.Publications
2024
Rolas L, Stein M, Barkaway A, Reglero-Real N, Sciacca E, Yaseen M, Wang H, Vazquez-Martinez L, Golding M, Blacksell IA, Giblin MJ, Jaworska E, Bishop CL, Voisin M-B, Gaston-Massuet C, Fossati-Jimack L, Pitzalis C, Cooper D, Nightingale TD, Lopez-Otin C, Lewis MJ and Nourshargh S (2024). Senescent endothelial cells promote pathogenic neutrophil trafficking in inflamed tissues. Springer Nature EMBO Reports vol. 25, (9) 3842-3869.
2023
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 (2023). Correction: RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas. Springer Nature Oncogene vol. 42, (49) 3655-3656.
Scagliotti V, Vignola ML, Willis T, Howard M, Marinelli E, Gaston-Massuet C, Andoniadou C and Charalambous M (2023). Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland. eLife eLife vol. 12,
Escuin S, Rose Raza-Knight S, 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. Disease Models & Mechanisms vol. 16, (3)
2022
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. Springer Nature Acta Neuropathologica Communications vol. 10, (1)
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 eLife vol. 11,
2021
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. Springer Nature Oncogene vol. 40, (45) 6354-6368.
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
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. The Endocrine Society The Journal of Clinical Endocrinology & Metabolism vol. 106, (10) e4142-e4154.
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. The Endocrine Society Journal of the Endocrine Society vol. 5, (Supplement_1) a529-a529.
Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue S-I, 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. Springer Nature Nature Communications vol. 12, (1)
2020
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
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 (2020). A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency. Karger Publishers Neuroendocrinology vol. 111, (5) 421-441.
2019
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. Bioscientifica Endocrine Abstracts
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 Frontiers in Endocrinology vol. 10,
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. Bioscientifica Endocrine Abstracts
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. Bioscientifica Endocrine Abstracts
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.
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. BMJ Journal of Medical Genetics vol. 56, (9)
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. American Diabetes Association Diabetes vol. 68, (7) 1473-1484.
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. Elsevier EBioMedicine vol. 42, 470-480.
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. Springer Nature Oncogene vol. 38, (27) 5381-5395.
2018
Macdougall CE, Wood EG, Loschko J, Scagliotti V, Cassidy FC, Robinson ME, Feldhahn N, Castellano L, Voisin M-B, 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. Elsevier Cell Metabolism vol. 27, (3) 588-601.e4.
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. MDPI International Journal of Molecular Sciences vol. 19, (2)
2017
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. Bioscientifica Endocrine Abstracts
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. Bioscientifica Endocrine Abstracts
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. Bioscientifica Endocrine Abstracts
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. Bioscientifica Endocrine Abstracts
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. Bioscientifica Endocrine Abstracts
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 Endoderm-derived organ abnormalities. Oxford University Press (OUP) Human Molecular Genetics vol. 26, (22) 4315-4326.
Jimenez F, Gualtieri A, Scagliotti V and Gaston-Massuet C (2017). Ephrin-B2 is required for pituitary development. Bioscientifica Endocrine Abstracts
2016
Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu C-I, 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 Proceedings of the National Academy of Sciences of the United States of America vol. 113, (5) e548-e557.
2015
Avagliano L, Doi P, Tosi D, Scagliotti V, Gualtieri A, Gaston-Massuet C, Pistocchi A, Gallina A, Marconi AM, Bulfamante G and Massa V (2015). Cell death and cell proliferation in human spina bifida. Wiley Birth Defects Research Part A Clinical and Molecular Teratology vol. 106, (2) 104-113.
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 (2015). CyclinD1 Down‐Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. Wiley Journal of Cellular Physiology vol. 231, (3) 613-622.
McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A, Hughes I, Townshend S, Martinez-Barbera J-P, Bouloux P-M 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). Elsevier Molecular and Cellular Endocrinology vol. 417, 63-72.
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 (2015). Histopathology and molecular characterisation of intrauterine-diagnosed congenital craniopharyngioma. Springer Nature Pituitary vol. 19, (1) 50-56.
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.
2014
Gevers EF, Gaston-Massuet C and de Roux N (2014). Pituitary and Neuroendocrinology. Yearbook of Pediatric Endocrinology 2014 Karger Publishers
2013
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.
Gevers EF, Gaston-Massuet C and Dattani MT (2013). Pituitary. Yearbook of Pediatric Endocrinology 2013 Karger Publishers
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.
2012
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.
Gevers EF, Gaston-Massuet C and Dattani MT (2012). Pituitary. Yearbook of Pediatric Endocrinology 2012 Karger Publishers
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.
2011
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.
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.
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.
2010
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.
2009
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.
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. Hindawi Genetics Research vol. 91, (2) 133-141.
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.
2008
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.
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.
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.
2007
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.
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. Hindawi Genetics Research vol. 89, (3) 181-188.
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.
2005
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.
2003
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.