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Research

Publications: Dr Juan Gaston Massuet

Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V et al. ( 2021 ) . Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans . Nature Communications vol. 12 , ( 1 )
Thomas B, Eldridge S, Nosrati B, Alvarez M, THORUP A-S, Nalesso G, Caxaria S, Barawi A et al. ( 2021 ) . WNT3A-loaded exosomes enable cartilage repair . Journal of Extracellular Vesicles
Kaygusuz SB, Arslan Ates E, Vignola ML, Volkan B, Geckinli BB, Turan S, Bereket A, Gaston-Massuet C et al. ( 2021 ) . Dysgenesis and dysfunction of pancreas and pituitary due to FOXA2 gene defects . J Clin Endocrinol Metab
Correia JC, Corral LG, Kaygusuz SB, Gualtieri A, 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 .
Oleari R, André V, Lettieri A, Tahir S, Roth L, Paganoni A, Eberini I, Parravicini C et al. ( 2021 ) . A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency . Neuroendocrinology vol. 111 , ( 5 ) 421 - 441 .
Crescente M, Armstrong PC, Kirkby NS, Edin ML, Chan MV, Lih FB, Jiao J, Maffucci T et al. ( 2020 ) . Profiling the eicosanoid networks that underlie the anti- and pro-thrombotic effects of aspirin . The FASEB Journal
Mariniello K, Ruiz-Babot G, McGaugh EC, Nicholson JG, Gualtieri A, Gaston-Massuet C, Nostro MC, Guasti L ( 2019 ) . Stem Cells, Self-Renewal, and Lineage Commitment in the Endocrine System . Frontiers in Endocrinology vol. 10 ,
Mistry A, Solomou A, Vignola ML, Lim CT, Herincs M, Caimari F, Costa AI, Begalli F et al. ( 2019 ) . Investigating the role of AIP in pituitary tumourigenesis . Endocrine Abstracts
Bollington M, Mistry A, Solomou A, Barry S, Begalli F, Vignola M, Lim CT, Herincs M et al. ( 2019 ) . Transcriptomic analyses reveal deregulation of focal adhesion pathway in Aip KO mice and AIP mutation positive human tumours . Endocrine Abstracts
Mitchell JA, Shala F, Elghazouli Y, Warner TD, Gaston-Massuet C, Crescente M, Armstrong PC, Herschman HR et al. ( 2019 ) . Cell-Specific Gene Deletion Reveals the Antithrombotic Function of COX1 and Explains the Vascular COX1/Prostacyclin Paradox . Circulation Research vol. 125 , ( 9 ) 847 - 854 .
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA et al. ( 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 .
Barry S, Carlsen E, Marques P, Stiles CE, Gadaleta E, Berney DM, Roncaroli F, Chelala C et al. ( 2019 ) . Tumor microenvironment defines the invasive phenotype of AIP-mutation-positive pituitary tumors . Oncogene vol. 38 , ( 27 ) 5381 - 5395 .
Gregory LC, Ferreira CB, Young-Baird SK, Williams HJ, Harakalova M, van Haaften G, Rahman SA, Gaston-Massuet C et al. ( 2019 ) . Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation . EBioMedicine vol. 42 , 470 - 480 .
MacDougall CE, Wood EG, Solomou A, Scagliotti V, Taketo MM, Gaston-Massuet C, Marelli-Berg FM, Charalambous M et al. ( 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 .
Macdougall C, Wood E, Charalambous M, Gaston-Massuet C, Taketo MM, Marelli-Berg F, Longhi MP ( 2018 ) . Investigating beta-catenin signalling in conventional dendritic cells in obesity-induced tissue inflammation . EUROPEAN JOURNAL OF IMMUNOLOGY . vol. 48 , 18 - 19 .
Macdougall CE, Wood EG, Loschko J, Scagliotti V, Cassidy FC, Robinson ME, Feldhahn N, Castellano L et al. ( 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 .
Bettini LR, Graziola F, Fazio G, Grazioli P, Scagliotti V, Pasquini M, Cazzaniga G, Biondi A et al. ( 2018 ) . Rings and bricks: Expression of cohesin components is dynamic during development and adult life . International Journal of Molecular Sciences vol. 19 , ( 2 )
Giri D, Vignola ML, Gualtieri A, Scagliotti V, McNamara P, Peak M, Didi M, Gaston-Massuet C et al. ( 2017 ) . Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endodermderived organ abnormalities . Human Molecular Genetics vol. 26 , ( 22 ) 4315 - 4326 .
Giri D, Vignola ML, Gualtieri A, Scagliotti V, McNamara P, Peak M, Didi M, Gaston-Massuet C et al. ( 2017 ) . Novel FOXA2 mutation causes hyperinsulinism, hypopituitarism with craniofacial dysmorphism and endoderm-derived organ abnormalities . Endocrine Abstracts
Kyprianou N, Gregory L, Vignola ML, Marinelli E, Gualtieri A, Scagliotti V, Davis S, Casado P et al. ( 2017 ) . The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF Cause Congenital hypopituitarism . Endocrine Abstracts
Barry S, Solomou A, Vignola L, Collier D, Carlsen E, Gadaleta E, Berney DM, Chelala C et al. ( 2017 ) . A comprehensive analysis of the AIP mutation positive pituitary tumour microenvironment: role of stromal cells and the pro-inflammatory cytokine network . Endocrine Abstracts
Scagliotti V, Gutierrez LP, Gualtieri A, Jimenez F, Kirkby N, Mitchell J, Warner T, Gevers E et al. ( 2017 ) . Cyclooxygenase-2 is a potential target for the treatment of Adamantinomatous craniopharyngioma . Endocrine Abstracts .
Solomou A, Herincs M, Roncaroli F, Vignola ML, Gaston-Massuet C, Korbonits M ( 2017 ) . Investigating the role of AIP in mouse pituitary adenoma formation . Endocrine Abstracts
Kyprianou N, Gregory L, Lillina VM, Besser R, Marinelli E, Gualtieri A, Scagliotti V, Davis S et al. ( 2017 ) . The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF cause congenital hypopituitarism . Endocrine Abstracts
Jimenez FA, Gualtieri A, Scagliotti V, Gaston-Massuet C ( 2017 ) . Ephrin-B2 is critical regulator of endocrine organ development . Mechanisms of Development . vol. 145 ,
Crescente M, Armstrong PC, CHAN MV, Edin ML, Lih FB, Jiao J, Gaston-Massuet C, Cottrell GS et al. ( 2017 ) . PLATELET COX-1 KNOCKOUT MOUSE AS A MODEL OF THE EFFECTS OF ASPIRIN IN THE CARDIOVASCULAR SYSTEM . HEART . Conference: BCS Annual Conference, ‘Cardiology at the Extremes' vol. 103 , A108 - A109 .
Jimenez F, Gualtieri A, Scagliotti V, Gaston-Massuet C ( 2017 ) . Ephrin-B2 is required for pituitary development . Endocrine Abstracts
Giri D, Vignola ML, Gualtieri A, Scagliotti V, Didi M, Gaston-Massuet C, Senniappan S ( 2017 ) . A NOVEL DENOVO FORKHEAD BOX A2 (FOXA2) MUTATION LEADS TO CONGENITAL HYPERINSULINISM, CRANIOFACIAL DYSMORPHIC FEATURES AND CONGENITAL HYPOPITUITARISM . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 43 - 43 .
Rolas L, Barkaway A, Morrell S, Golding M, Gaston-Massuet C, Lopez-Otin C, Nourshargh S ( 2017 ) . Characterization of a Novel Mouse Model of Endothelial Cell Progerin Expression . JOURNAL OF VASCULAR RESEARCH . vol. 54 , 7 - 7 .
Gregory LC, Mccabe MJ, Alatzoglou KS, Turton JP, Webb EA, Williams H, Gaston-Massuet C, Kelberman D et al. ( 2017 ) . IDENTIFICATION OF GENETIC VARIANTS IN A LARGE COHORT OF PATIENTS WITH CONGENITAL HYPOTHALAMO-PITUITARY DISORDERS . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 42 - 42 .
Fazio G, Gaston-Massuet C, Bettini LR, Graziola F, Scagliotti V, Cereda A, Ferrari L, Mazzola M et al. ( 2016 ) . CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies . Journal of Cellular Physiology vol. 231 , ( 3 ) 613 - 622 .
Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S et al. ( 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 .
Avagliano L, Doi P, Tosi D, Scagliotti V, Gualtieri A, Gaston-Massuet C, Pistocchi A, Gallina A et al. ( 2016 ) . Cell death and cell proliferation in human spina bifida . Birth Defects Research Part A - Clinical and Molecular Teratology vol. 106 , ( 2 ) 104 - 113 .
Scagliotti V, Avagliano L, Gualtieri A, Graziola F, Doi P, Chalker J, Righini A, Korbonits M et al. ( 2016 ) . Histopathology and molecular characterisation of intrauterine-diagnosed congenital craniopharyngioma . Pituitary vol. 19 , ( 1 ) 50 - 56 .
Gregory LC, Williams H, Rahman S, Ferreira CB, Alatzoglou KS, Kapoor RR, Hussain K, Gaston-Massuet C et al. ( 2016 ) . A Novel Mutation in Eukaryotic Translation Initiation Factor 2 Subunit 3 (EIF2S3) is Associated with X-Linked Hypopituitarism and Glucose Dysregulation . HORMONE RESEARCH IN PAEDIATRICS . vol. 86 , 35 - 35 .
Gregory L, Kypranou N, Besser R, Vignola L, Temple K, Davis J, Gevers E, Dattani M et al. ( 2016 ) . The MAPK Effector BRAF is Essential for the Integrity of Hypothalamic-Pituitary Development and Deregulation of this Pathway Causes Congenital Hypopituitarism . HORMONE RESEARCH IN PAEDIATRICS . vol. 86 , 33 - 34 .
McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A et al. ( 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 .
Gregory LC, Gaston-Massuet C, Andoniadou CL, Carreno G, Webb EA, Kelberman D, McCabe MJ, Panagiotakopoulos L et al. ( 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 .
Graziola F, Scagliotti V, Gold-Diaz D, Gaston-Massuet C, Massa V ( 2013 ) . Nipbl expression analysis in the developing mouse embryo . GENETICS RESEARCH . vol. 95 , 185 - 185 .
Andoniadou CL, Matsushima D, Mousavy Gharavy SN, Signore M, Mackintosh AI, Schaeffer M, Gaston-Massuet C, Mollard P et al. ( 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 .
McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto K-H et al. ( 2013 ) . Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia . J Clin Endocrinol Metab vol. 98 , ( 3 ) E547 - E557 .
Jayakody SA, Andoniadou CL, Gaston-Massuet C, Signore M, Cariboni A, Bouloux PM, Le Tissier P, Pevny LH et al. ( 2012 ) . SOX2 regulates the hypothalamic-pituitary axis at multiple levels . J Clin Invest vol. 122 , ( 10 ) 3635 - 3646 .
Andoniadou CL, Gaston-Massuet C, Reddy R, Schneider RP, Blasco MA, Le Tissier P, Jacques TS, Pevny LH et al. ( 2012 ) . Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma . Acta Neuropathol vol. 124 , ( 2 ) 259 - 271 .
Jayakody SA, Andoniadou C, Signore M, Gaston-Massuet C, Pevny LH, Brue T, Martinez-Barbera J-P ( 2011 ) . Investigating genetic factors underlying hypopituitarism and septo-optic dysplasia in humans . GENETICS RESEARCH . vol. 93 , 437 - 438 .
Andoniadou CL, Signore M, Young RM, Gaston-Massuet C, Wilson SW, Fuchs E, 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 et al. ( 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 et al. ( 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 .
Sottocornola R, Royer C, Vives V, Tordella L, Zhong S, Wang Y, Ratnayaka I, Shipman M et al. ( 2010 ) . ASPP2 Binds Par-3 and Controls the Polarity and Proliferation of Neural Progenitors during CNS Development . DEVELOPMENTAL CELL vol. 19 , ( 1 ) 126 - 137 .
Gaston-Massuet C, Andoniadou CL, Signore M, Jayakody S, Charolidi N, Le Tissier P, Dattani M, Martinez-Barbera JP ( 2010 ) . Enhancement of the Canonical Wnt Pathway in Rathke's Pouch Results in Pituitary Tumours Reminiscent of Human Adamantinomatous Craniopharyngioma . ENDOCRINE REVIEWS . vol. 31 , S2523 - S2523 .
Gaston-Massuet C, Kelberman D, Dattani M, Martinez-Barbera JP ( 2009 ) . Absence of SIX3 mutations in patients with congenital hypopituitarism . Am J Med Genet A vol. 149A , ( 12 ) 2874 - 2876 .
Andoniadou CL, Gaston-Massuet C, Martinez-Barbera JP ( 2009 ) . Hesx1 antagonises canonical Wnt signalling in anterior forebrain and pituitary gland . MECHANISMS OF DEVELOPMENT . vol. 126 , S229 - S230 .
Jayakody SA, Gaston-Massuet C, Andoniadou CL, Dattani M, Matinez-Barbera JP ( 2009 ) . Molecular analysis of Hesx1 function in pituitary and hypothalamic development . MECHANISMS OF DEVELOPMENT . vol. 126 , S135 - S135 .
Massa V, Ybot-Gonzalez P, Savery D, Gaston-Massuet C, Greene NE, 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, 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 et al. ( 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, Martinez-Barbera JP ( 2008 ) . DNMT1 interacts with the developmental transcriptional repressor HESX1 . Biochim Biophys Acta vol. 1783 , ( 1 ) 131 - 143 .
Ybot-Gonzalez P, Gaston-Massuet C, Girdler G, Klingensmith J, Arkell R, Greene NDE, Copp AJ ( 2007 ) . Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signalling . Development vol. 134 , ( 17 ) 3203 - 3211 .
Andoniadou C, Signore M, Sajedi E, Gaston-Massuet C, Barbera JPM ( 2007 ) . Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain . GENETICS RESEARCH . vol. 89 , 182 - 182 .
Andoniadou CL, Signore M, Sajedi E, Gaston-Massuet C, Kelberman D, Burns AJ, Itasaki N, Dattani M et al. ( 2007 ) . Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain . Development vol. 134 , ( 8 ) 1499 - 1508 .
Sajed E, Gaston-Massuet C, Signore M, Dattani M, Martinez-Barbera JP ( 2006 ) . Role of the homeobox gene Hesx1/HESX1 in forebrain and pituitary formation in mouse and humans . GENETICAL RESEARCH . vol. 88 , 72 - 73 .
Gaston-Massuet C, Henderson DJ, Greene NDE, Copp AJ ( 2005 ) . Zic4, a zinc-finger transcription factor, is expressed in the developing mouse nervous system . Dev Dyn vol. 233 , ( 3 ) 1110 - 1115 .
Gaston-Massuet C, Elms P, Henderson D, Arkell R, Copp A ( 2003 ) . Requirement for Zic2 during mouse neurulation . DEVELOPMENTAL BIOLOGY . vol. 259 , 529 - 529 .
Murdoch JN, Henderson DJ, Doudney K, Gaston-Massuet C, Phillips HM, Paternotte C, Arkell R, Stanier P et al. ( 2003 ) . Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse . Hum Mol Genet vol. 12 , ( 2 ) 87 - 98 .