Results 51 to 60 of about 10,673,510 (116)

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

, 2019
: Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent.
Veenstra-Knol, H. E., Vergano, Samantha A. Schrier, Gerdts, Jennifer, Quercia, Nada, Alkhunaizi, Ebba, Dickson, Rebecca, Rosenblum, Jessica, Chitayat, David, Manning, Melanie Ann, McVeigh, Terri, Maas, Saskia M., van Haeringen, Arie, Vandeweyer, Geert, Krajewska-Walasek, Malgorzata, Le Pichon, Jean-Baptiste, Keren, Boris, Smeland, Marie Falkenberg, Marcelis, Carlo L., Jezela-Stanek, Aleksandra, Fransen, Erik, K\ufcry, S\ue9bastien, Fannemel, Madeleine, Pizzino, Amy, Kok, Fernando, Bedrosian-Sermone, Sandra, Van der Aa, Nathalie, Nordgren, Ann, Feenstra, Ilse, Chung, Wendy K., Jacquette, Aurelia, Mansour, Sahar, Kleefstra, Tjitske, Gripp, Karen, Clement, Emma, Bakshi, Madhura, Benke, Paul, Cappuyns, Elisa, Jayakar, Parul, McGuire, Marianne, Wilson, Meredith, Kooy, Frank, Hughes, Susan Starling, Abdulrahman, Omar A., Riess, Angelika, Clayton-Smith, Jill, Monteiro, Fabiola, Krokosky, Alyson, Hurst, Jane, Metcalfe, Kay, Eichenberger, Jacob, Anderlid, Britt-Marie, Kvarnung, Malin, Peeden, Joseph, Slattery, Leah, Rosenfeld, Jill A., Bernier, Raphael, Meuwissen, Marije, Malmgren, Helena, Van Dijck, Anke, Infante, Elena, Vulto-van Silfhout, Anneke T., Ozmore, Jillian R., Valentino, Caitlin, Romano, Corrado, van den Ende, Jenneke, Dyment, David, Hendon, Laura G., Treat, Kayla, Berman, Yemina, Elpeleg, Orly, Willemsen, Marjolein H., Ockeloen, Charlotte, Stessman, Holly A., Bezieau, Stephane, Lindstrand, Anna, Madan-Khetarpal, Suneeta, Mancini, Grazia M., de Vries, Bert B.A., Cristian, Ingrid, Isidor, Bertrand, Lachlan, Katherine, van der Werf, Ilse, Schouten, Meyke, Dennis, Anna, van der Smagt, Jasper, Morrow, Eric, Tzschach, Andreas, Helsmoortel, C\ue9line, van der Burgt, Ineke, Desai, Sonal, Eichler, Evan E., Nordenskjold, Magnus, van de Wijdeven, Marina J., Gonzalez-Lamuno, Domingo, Moog, Ute, Safina, Nicole, Faivre, Laurence, Baker, Laura, Bowdin, Sarah, Lynch, Sally Ann, McMillan, Clare, Gozes, Illana, Boonen, Susanne E.   +102 more
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The ADNP-mediated transcriptome response to ketamine impairs the cytoskeletal protein axis

: De novo variants in the Activity-Dependent Neuroprotective Protein (ADNP) gene cause the autistic Helsmoortel-Van der Aa syndrome with patients showing mild to disastrous phenotypes impacting brain functioning, behavior, and organ functions.
Kooy, R. Frank, D' Incal, Claudio, Mateiu, Ligia, Elinck, Ellen, De Man, Kevin, Gozes, Illana   +5 more
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Phosphoinositide metabolism links cGMP-dependent protein kinase G to essential Ca²⁺ signals at key decision points in the life cycle of malaria parasites [PDF]

, 2014
This work was funded by grants from the Wellcome Trust (WT098051 and 079643/Z/06/Z) and the Medical Research Council (G0501670) to OB, a Wellcome Trust project grant to DB (WT094752), a Wellcome Trust Grant (WT093228) to TKS, a Marie Curie Fellowship ...
Katrin Volkmann, Chappell, Lia, Brochet, M., Oliver Billker, Eloise Thompson, Billker, Oliver,, Mathieu Brochet, Berriman, Matthew, Jyoti Choudhary (261900), Frank Schwach, Rayner, Julian C., Rayner, Julian C, Jyoti Choudhary, Lia Chappell (530631), Sebastian, Sarah, Lia Chappell, Chappell, L., Terry K. Smith (112550), Gomes, Ana Rita, Frank Schwach (530630), Ana Rita Gomes, Oliver Billker (92636), Smith, T.K., Thompson, E., Schwach, F., Sebastian, S., Baker, David A, Volkmann, K., Sarah Sebastian (530629), Volkmann, Katrin, David A Baker, Terry K Smith, Ana Rita Gomes (220735), Collins, Mark O., Smith, Terry K., Mark O Collins, Gomes, A.R., Collins, M.O., David A. Baker (122252), Choudhary, J., Julian C Rayner, Brochet, Mathieu, Mathieu Brochet (149272), Billker, Oliver, Collins, Mark O, Mark O. Collins (131229), Billker, O., Schwach, Frank, Berriman, M., Sarah Sebastian, Rayner, J.C., Matthew Berriman (5353), Baker, David A., Thompson, Eloise, Smith, Terry K, Matthew Berriman, Choudhary, Jyoti, Eloise Thompson (376344), Baker, D.A., Julian C. Rayner (121198), Katrin Volkmann (149256)   +60 more
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Dehydroepiandrosterone sulfate (DHEAS) is neuroprotective when administered either before or after injury in a focal cortical cold lesion model [PDF]

, 2006
Dehydroepiandrosterone and its sulfate (DHEAS) are sex hormone precursors that exert marked neurotrophic and/or neuroprotective activity in the central nervous system.
Toldi, József, Kis, Zsolt, Rózsa, Éva, Farkas, Tamás, Juhász-Vedres, Gabriella, Párducz, Árpád, Rákos, Gabriella, Wölfling, János, Dobszay B., Gábor   +8 more
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Xenon induces transcription of ADNP in neonatal rat brain

, 2008
Xenon and other inhalational agents induce cell and organ protection through different and only partially elucidated molecular mechanisms. Anesthesia induced or pharmacologic preconditioning is a recognized mechanism of cell protection.
KASTSIUCHENKA O, VALLEGGI S, SUN P, GIUNTA, FRANCESCO, CATTANO D, CAVAZZANA AO, NATALE, GIANFRANCO, MA D, ABRAMO A   +8 more
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Involvement of PACAP/ADNP signaling in the resistance to cell death in malignant peripheral nerve sheath tumor (MPNST) cells

, 2012
Malignant peripheral nerve sheath tumors (MPNSTs) are sarcomas able to grow under conditions of metabolic stress caused by insufficient nutrients or oxygen.
Giunta, S, Castorina, A, Scuderi, S, D'Agata, V   +3 more
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The regulation of endocannabinoids after neuronal damage and the neuroprotective impact of GPR55 in organotypic hippocampal slice cultures [PDF]

, 2013
Endocannabinoids (eCB) are signaling lipids and became known for their importance in the central nervous system as well as in immune defense. Beneficial effects of eCB are shown in processes of excitotoxic lesion, secondary damage and neuronal plasticity
Kallendrusch, Sonja
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Avaliação do efeito neuroprotetor de lectinas frente à neurotoxicidade glutamatérgica [PDF]

, 2012
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas. Programa de Pós-Graduação em BioquímicaA excitotoxicidade induzida pela excessiva ativação da neurotransmissão glutamatérgica está envolvida em várias ...
Jacques, Amanda Virtuoso
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Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

: Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense ...
D' Incal, Claudio, Van der Aa, Nathalie, Szrama, Kristy, De Man, Kevin, Konings, Anthony, Gabriele, Michele, Cappuyns, Elisa, Vitriolo, Alessandro, Bastini, Lina, Van Meel, Kim, Van Dijck, Anke, Mohn, Fabio, Choukri, Kaoutar, Buys, Amber, Buhler, Marc, Rizzuti, Ludovico, Testa, Giuseppe, Kooy, Frank, Vanden Berghe, Wim   +18 more
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Functional characterization of Shadoo, a PrP-like protein with neuroprotective activity [PDF]

, 2012
Sakthivelu, Vignesh
core   +1 more source