Dr Carles Gaston-Massuet

Carles Gaston-Massuet

Senior Lecturer in Endocrine Genetics

SMD
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

solid heart iconPublications of specific relevance to Predictive in vitro Models

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.