Search Results - "Nagy, Vanja"

Network analysis reveals rare disease signatures across multiple levels of biological organization by Buphamalai, Pisanu, Kokotovic, Tomislav, Nagy, Vanja, Menche, Jörg

“…Rare genetic diseases are typically caused by a single gene defect. Despite this clear causal relationship between genotype and phenotype, identifying the…”
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The RANKL-RANK Story by Nagy, Vanja, Penninger, Josef M

“…Receptor activator of nuclear factor x03BA;B (RANK) and its ligand (RANKL) have originally been described for their key roles in bone metabolism and the immune…”
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Ubiquitin ligase complexes: from substrate selectivity to conjugational specificity by Nagy, Vanja, Dikic, Ivan

“…Localization, activity and lifespan of a protein are signaled by a small, 8 kDa protein, ubiquitin (Ub). Ub conjugation is a post-translational modification…”
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In Vivo Roles for Matrix Metalloproteinase-9 in Mature Hippocampal Synaptic Physiology and Plasticity by Bozdagi, Ozlem, Nagy, Vanja, Kwei, Kimberly T, Huntley, George W

“…Fishberg Department of Neuroscience, The Mount Sinai School of Medicine, New York, New York Submitted 24 February 2007; accepted in final form 7 May 2007…”
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Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients by Freyberger, Fiona, Kokotović, Tomislav, Krnjak, Goran, Frković, Sanda Huljev, Nagy, Vanja

“…Here, we report a novel case of a male patient with a hemizygous missense variant in STAG2 (p.Tyr159His) resulting in Mullegama–Klein–Martinez syndrome (MKMS),…”
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Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA by Desiderio, Simon, Vermeiren, Simon, Van Campenhout, Claude, Kricha, Sadia, Malki, Elisa, Richts, Sven, Fletcher, Emily V., Vanwelden, Thomas, Schmidt, Bela Z., Henningfeld, Kristine A., Pieler, Tomas, Woods, C. Geoffrey, Nagy, Vanja, Verfaillie, Catherine, Bellefroid, Eric J.

“…In humans, many cases of congenital insensitivity to pain (CIP) are caused by mutations of components of the NGF/TrkA signaling pathway, which is required for…”
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Matrix Metalloproteinase-9 Is Required for Hippocampal Late-Phase Long-Term Potentiation and Memory by Nagy, Vanja, Bozdagi, Ozlem, Matynia, Anna, Balcerzyk, Marcin, Okulski, Pawel, Dzwonek, Joanna, Costa, Rui M, Silva, Alcino J, Kaczmarek, Leszek, Huntley, George W

“…Matrix metalloproteinases (MMPs) are extracellular proteases that have well recognized roles in cell signaling and remodeling in many tissues. In the brain,…”
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The Extracellular Protease Matrix Metalloproteinase-9 Is Activated by Inhibitory Avoidance Learning and Required for Long-Term Memory by Nagy, Vanja, Bozdagi, Ozlem, Huntley, George W

“…Matrix metalloproteinases (MMPs) are a family of extracellularly acting proteolytic enzymes with well-recognized roles in plasticity and remodeling of synaptic…”
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PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life by Kokotović, Tomislav, Langeslag, Michiel, Lenartowicz, Ewelina M, Manion, John, Fell, Christopher W, Alehabib, Elham, Tafakhori, Abbas, Darvish, Hossein, Bellefroid, Eric J, Neely, G Gregory, Kress, Michaela, Penninger, Josef M, Nagy, Vanja

“…PR domain-containing member 12 (PRDM12) is a key developmental transcription factor in sensory neuronal specification and survival. Patients with rare…”
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The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception by Nagy, Vanja, Cole, Tiffany, Van Campenhout, Claude, Khoung, Thang M, Leung, Calvin, Vermeiren, Simon, Novatchkova, Maria, Wenzel, Daniel, Cikes, Domagoj, Polyansky, Anton A, Kozieradzki, Ivona, Meixner, Arabella, Bellefroid, Eric J, Neely, G Gregory, Penninger, Josef M

“…PR homology domain-containing member 12 (PRDM12) belongs to a family of conserved transcription factors implicated in cell fate decisions. Here we show that…”
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Cadherin-8 and N-cadherin differentially regulate pre- and postsynaptic development of the hippocampal mossy fiber pathway by Bekirov, Iddil H., Nagy, Vanja, Svoronos, Alexandra, Huntley, George W., Benson, Deanna L.

“…Cells sort into regions and groups in part by their selective surface expression of particular classic cadherins during development. In the nervous system,…”
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Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability by Fell, Christopher W., Nagy, Vanja

“…Intellectual disabilities (ID) are a type of neurodevelopmental disorder (NDD). They can have a genetic cause, including an emerging class of ID centring…”
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PRDM12: New Opportunity in Pain Research by Imhof, Sophie, Kokotović, Tomislav, Nagy, Vanja

“…PRDM12 is a newly identified causative gene for a type of congenital insensitivity to pain disorder, which is characterized by the inability to perceive pain…”
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SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis by Ikeda, Fumiyo, Deribe, Yonathan Lissanu, Skånland, Sigrid S., Stieglitz, Benjamin, Grabbe, Caroline, Franz-Wachtel, Mirita, van Wijk, Sjoerd J. L., Goswami, Panchali, Nagy, Vanja, Terzic, Janos, Tokunaga, Fuminori, Androulidaki, Ariadne, Nakagawa, Tomoko, Pasparakis, Manolis, Iwai, Kazuhiro, Sundberg, John P., Schaefer, Liliana, Rittinger, Katrin, Macek, Boris, Dikic, Ivan

“…SHARPIN protein role in immune signalling The ubiquitin conjugation system regulates the canonical (or classical) nuclear factor κB (NF-κB)-activation pathway…”
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Stories in Molecular Medicine: March 2021

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BioProfiling.jl: profiling biological perturbations with high-content imaging in single cells and heterogeneous populations by Vulliard, Loan, Hancock, Joel, Kamnev, Anton, Fell, Christopher W, Ferreira da Silva, Joana, Loizou, Joanna I, Nagy, Vanja, Dupré, Loïc, Menche, Jörg

“…Abstract Motivation High-content imaging screens provide a cost-effective and scalable way to assess cell states across diverse experimental conditions. The…”
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Identification of ALK in Thinness by Orthofer, Michael, Valsesia, Armand, Mägi, Reedik, Wang, Qiao-Ping, Kaczanowska, Joanna, Kozieradzki, Ivona, Leopoldi, Alexandra, Cikes, Domagoj, Zopf, Lydia M., Tretiakov, Evgenii O., Demetz, Egon, Hilbe, Richard, Boehm, Anna, Ticevic, Melita, Nõukas, Margit, Jais, Alexander, Spirk, Katrin, Clark, Teleri, Amann, Sabine, Lepamets, Maarja, Neumayr, Christoph, Arnold, Cosmas, Dou, Zhengchao, Kuhn, Volker, Novatchkova, Maria, Cronin, Shane J.F., Tietge, Uwe J.F., Müller, Simone, Pospisilik, J. Andrew, Nagy, Vanja, Hui, Chi-Chung, Lazovic, Jelena, Esterbauer, Harald, Hagelkruys, Astrid, Tancevski, Ivan, Kiefer, Florian W., Harkany, Tibor, Haubensak, Wulf, Neely, G. Gregory, Metspalu, Andres, Hager, Jorg, Gheldof, Nele, Penninger, Josef M.

“…There is considerable inter-individual variability in susceptibility to weight gain despite an equally obesogenic environment in large parts of the world…”
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Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability by Alehabib, Elham, Kokotović, Tomislav, Ranji-Burachaloo, Sakineh, Tafakhori, Abbas, Ramshe, Samira Molaei, Esmaeilizadeh, Zahra, Darvish, Hossein, Movafagh, Abolfazl, Nagy, Vanja

“…Epilepsy is a disease of Central Nervous System (CNS) characterized by abnormal brain activity and recurrent seizures and is considered a clinically and…”
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Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function by Kokotović, Tomislav, Lenartowicz, Ewelina M., Langeslag, Michiel, Ciotu, Cosmin I., Fell, Christopher W., Scaramuzza, Angelica, Fischer, Michael J. M., Kress, Michaela, Penninger, Josef M., Nagy, Vanja

“…Mesenchyme homeobox protein 2 (MEOX2) is a transcription factor involved in mesoderm differentiation, including development of bones, muscles, vasculature and…”
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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder by D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja

“…Contactin-associated protein-like 2 ( CNTNAP2 ) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and…”
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