Search Results - "Martinez‐Barbera, J. P."

CTNNB1 mutations are clonal in adamantinomatous craniopharyngioma by Apps, J. R., Stache, C., Gonzalez‐Meljem, J. M., Gutteridge, A., Chalker, J., Jacques, T. S., Forshew, T., Hölsken, A., Martinez‐Barbera, J. P.

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The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism by 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., Dattani, M.T.

“…Summary Introduction The Gli family of zinc finger (GLI) transcription factors mediates the sonic hedgehog signalling pathway (HH) essential for CNS, early…”
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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse by Robinson, Iain C. A. F, Dattani, Mehul T, Martinez-Barbera, Juan-Pedro, Thomas, Paul Q, Brickman, Joshua M, Gupta, Raj, Mårtensson, Inga-Lill, Toresson, Håkan, Fox, Margaret, Wales, Jerry K. H, Hindmarsh, Peter C, Krauss, Stefan, Beddington, Rosa S. P

“…During early mouse development the homeobox gene Hesx1 is expressed in prospective forebrain tissue, but later becomes restricted to Rathke's pouch, the…”
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The Senescence-associated Secretory Phenotype Mediates Oncogene-induced Senescence in Pediatric Pilocytic Astrocytoma by Buhl, Juliane L, Selt, Florian, Hielscher, Thomas, Guiho, Romain, Ecker, Jonas, Sahm, Felix, Ridinger, Johannes, Riehl, Dennis, Usta, Diren, Ismer, Britta, Sommerkamp, Alexander C, Martinez-Barbera, J P, Wefers, Annika K, Remke, Marc, Picard, Daniel, Pusch, Stefan, Gronych, Jan, Oehme, Ina, van Tilburg, Cornelis M, Kool, Marcel, Kuhn, Daniela, Capper, David, von Deimling, Andreas, Schuhmann, Martin U, Herold-Mende, Christel, Korshunov, Andrey, Brummer, Tilman, Pfister, Stefan M, Jones, David T W, Witt, Olaf, Milde, Till

“…Pilocytic astrocytoma is the most common childhood brain tumor, characterized by constitutive MAPK activation. MAPK signaling induces oncogene-induced…”
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Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes by Hufnagel, Robert B, Arno, Gavin, Hein, Nichole D, Hersheson, Joshua, Prasad, Megana, Anderson, Yvonne, Krueger, Laura A, Gregory, Louise C, Stoetzel, Corinne, Jaworek, Thomas J, Hull, Sarah, Li, Abi, Plagnol, Vincent, Willen, Christi M, Morgan, Thomas M, Prows, Cynthia A, Hegde, Rashmi S, Riazuddin, Saima, Grabowski, Gregory A, Richardson, Rudy J, Dieterich, Klaus, Huang, Taosheng, Revesz, Tamas, Martinez-Barbera, J P, Sisk, Robert A, Jefferies, Craig, Houlden, Henry, Dattani, Mehul T, Fink, John K, Dollfus, Helene, Moore, Anthony T, Ahmed, Zubair M

“…Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome…”
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Regionalisation of anterior neuroectoderm and its competence in responding to forebrain and midbrain inducing activities depend on mutual antagonism between OTX2 and GBX2 by Martinez-Barbera, J P, Signore, M, Boyl, P P, Puelles, E, Acampora, D, Gogoi, R, Schubert, F, Lumsden, A, Simeone, A

“…The anterior neural ridge (ANR), and the isthmic organiser (IsO) represent two signalling centres possessing organising properties necessary for forebrain…”
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SHH pathway inhibition is protumourigenic in adamantinomatous craniopharyngioma by Carreno, G, Boult, J K R, Apps, J, Gonzalez-Meljem, J M, Haston, S, Guiho, R, Stache, C, Danielson, L S, Koers, A, Smith, L M, Virasami, A, Panousopoulos, L, Buchfelder, M, Jacques, T S, Chesler, L, Robinson, S P, Martinez-Barbera, J P

“…Pharmacological inhibition of the sonic hedgehog (SHH) pathway can be beneficial against certain cancers but detrimental in others. Adamantinomatous…”
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HESX1: a novel gene implicated in a familial form of septo-optic dysplasia by Dattani, MT, Martinez-Barbera, JP, Thomas, PQ, Brickman, JM, Gupta, R, Wales, JKH, Hindmarsh, PC, Beddington, RSP, Robinson, ICAF

“…The homeobox gene Hesxl, which encodes a pituitary transcription factor, is first expressed at gastrulation in the mouse embryo. Hesxl expression begins in…”
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Getting your head around Hex and Hesx1: forebrain formation in mouse by Martinez-Barbera, J P, Beddington, R S

“…An increasing amount of evidence suggests that in mouse there are two signalling centres required for the formation of a complete neural axis: the anterior…”
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Forebrain and midbrain development requires epiblast-restricted Otx2 translational control mediated by its 3' UTR by Boyl, P P, Signore, M, Acampora, D, Martinez-Barbera, J P, Ilengo, C, Annino, A, Corte, G, Simeone, A

“…Otx genes play an important role in brain development. Previous mouse models suggested that the untranslated regions (UTRs) of Otx2 mRNA may contain regulatory…”
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Hex homeobox gene-dependent tissue positioning is required for organogenesis of the ventral pancreas by Bort, Roque, Martinez-Barbera, Juan Pedro, Beddington, Rosa S P, Zaret, Kenneth S

“…In animal development, digestive tissues emerge from different positions of the endoderm as a result of patterning signals from overlying mesoderm. Although…”
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Loss of Cited2 affects trophoblast formation and vascularization of the mouse placenta by Withington, S.L., Scott, A.N., Saunders, D.N., Lopes Floro, K., Preis, J.I., Michalicek, J., Maclean, K., Sparrow, D.B., Barbera, J.P. Martinez, Dunwoodie, S.L.

“…Cited2 is widely expressed in the developing embryo and in extraembryonic tissues including the placenta. Gene expression can be induced by a number of…”
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Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations by Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro, Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R., Heyningen, Veronica van, Hanson, Isabel M.

“…Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear…”
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The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation by Martinez Barbera, J P, Clements, M, Thomas, P, Rodriguez, T, Meloy, D, Kioussis, D, Beddington, R S

“…The homeobox gene Hex is expressed in the anterior visceral endoderm (AVE) and rostral definitive endoderm of early mouse embryos. Later, Hex transcripts are…”
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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene ( IGSF1 ) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement by Schoenmakers, N, Dr, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ, Persani, L, Campi, I, Bonomi, M, Beck-Peccoz, P, Zhu, H, Davis, TME, Hokken-Koelega, ACS, Del Blanco, D Gorbenko, Rangasami, JJ, Ruivenkamp, CAL, Laros, JFJ, Kriek, M, Kant, SG, Bosch, CAJ, Biermasz, NR, Appelman-Dijkstra, NM, Corssmit, EP, Hovens, GCJ, Pereira, AM, den Dunnen, JT, Wade, MG, Breuning, MH, Hennekam, RC, Dattani, MT, Wit, JM, Bernard, DJ, Chatterjee, K

“…Abstract Background Congenital central hypothyroidism occurs either as isolated thyroid-stimulating hormone (TSH) deficiency or in conjunction with other…”
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The Homeobox Gene Hesx1 Is Required in the Anterior Neural Ectoderm for Normal Forebrain Formation by Martinez-Barbera, Juan Pedro, Rodriguez, Tristan A, Beddington, Rosa S.P

“…The homeobox gene Hesx1 is expressed in the anterior visceral endoderm (AVE), anterior axial mesendoderm (AME), and anterior neural ectoderm (ANE) during early…”
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OTD/OTX2 functional equivalence depends on 5' and 3' UTR-mediated control of Otx2 mRNA for nucleo-cytoplasmic export and epiblast-restricted translation by Acampora, D, Boyl, P P, Signore, M, Martinez-Barbera, J P, Ilengo, C, Puelles, E, Annino, A, Reichert, H, Corte, G, Simeone, A

“…How gene activity is translated into phenotype and how it can modify morphogenetic pathways is of central importance when studying the evolution of regulatory…”
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Molecular and cellular pathogenesis of adamantinomatous craniopharyngioma by Martinez-Barbera, Juan Pedro

“…Adamantinomatous craniopharyngiomas (ACPs) are the most common pituitary tumours in children. Although histologically benign, these are clinically aggressive…”
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Conservation of BF-1 expression in amphioxus and zebrafish suggests evolutionary ancestry of anterior cell types that contribute to the vertebrate telencephalon by Toresson, H, Martinez-Barbera, J P, Bardsley, A, Caubit, X, Krauss, S

“…The forkhead domain containing transcription factor BF-1 has been shown to play a major role in the correct development of the cerebral hemispheres in the…”
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Adrenal development is initiated by Cited2 and Wt1 through modulation of Sf-1 dosage by Val, Pierre, Martinez-Barbera, Juan-Pedro, Swain, Amanda

“…It has been proposed that the mammalian adrenal cortex and gonad are derived from the same primordium present during early urogenital development. Molecular…”
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