Search Results - "Muniz Moreno, Maria Del Mar"

Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data by Muñiz Moreno, Maria Del Mar, Gavériaux-Ruff, Claire, Herault, Yann

“…In individuals or animals suffering from genetic or acquired diseases, it is important to identify which clinical or phenotypic variables can be used to…”
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Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models by Duchon, Arnaud, del Mar Muniz Moreno, Maria, Martin Lorenzo, Sandra, Silva de Souza, Marcia Priscilla, Chevalier, Claire, Nalesso, Valérie, Meziane, Hamid, Loureiro de Sousa, Paulo, Noblet, Vincent, Armspach, Jean-Paul, Brault, Veronique, Herault, Yann

“…Abstract Down syndrome (DS) is the most common genetic form of intellectual disability caused by the presence of an additional copy of human chromosome 21…”
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Modeling Down syndrome in animals from the early stage to the 4.0 models and next by Muñiz Moreno, Maria Del Mar, Brault, Véronique, Birling, Marie-Christine, Pavlovic, Guillaume, Herault, Yann

“…The genotype-phenotype relationship and the physiopathology of Down Syndrome (DS) have been explored in the last 20 years with more and more relevant mouse…”
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Ts66Yah, a mouse model of Down syndrome with improved construct and face validity by Duchon, Arnaud, Del Mar Muñiz Moreno, Maria, Chevalier, Claire, Nalesso, Valérie, Andre, Philippe, Fructuoso-Castellar, Marta, Mondino, Mary, Po, Chrystelle, Noblet, Vincent, Birling, Marie-Christine, Potier, Marie-Claude, Herault, Yann

“…Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). The understanding of genotype-phenotype relationships, the identification of driver…”
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Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders by Martin Lorenzo, Sandra, Muniz Moreno, Maria Del Mar, Atas, Helin, Pellen, Marion, Nalesso, Valérie, Raffelsberger, Wolfgang, Prevost, Geraldine, Lindner, Loic, Birling, Marie-Christine, Menoret, Séverine, Tesson, Laurent, Negroni, Luc, Concordet, Jean-Paul, Anegon, Ignacio, Herault, Yann

“…Copy number variations (CNVs) of the human 16p11.2 locus are associated with several developmental/neurocognitive syndromes. Particularly, deletion and…”
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Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning by Abad, Clemer, Robayo, Maria C., Muñiz-Moreno, Maria del Mar, Bernardi, Maria T., Otero, Maria G., Kosanovic, Christina, Griswold, Anthony J., Pierson, Tyler Mark, Walz, Katherina, Young, Juan I.

“…GATAD2B (GATA zinc finger domain containing 2B) variants are associated with the neurodevelopmental syndrome GAND, characterized by intellectual disability…”
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The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice by Xue, Yaping, Kremer, Mélanie, Muniz Moreno, Maria del Mar, Chidiac, Celeste, Lorentz, Romain, Birling, Marie-Christine, Barrot, Michel, Herault, Yann, Gaveriaux-Ruff, Claire

“…The voltage-gated sodium channel Nav1.7 is encoded by SCN9A gene and plays a critical role in pain sensitivity. Several SCN9A gain-of-function (GOF) mutations…”
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The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity by Chidiac, Celeste, Xue, Yaping, Muniz Moreno, Maria del Mar, Bakr Rasheed, Ameer Abu, Lorentz, Romain, Birling, Marie-Christine, Gaveriaux-Ruff, Claire, Herault, Yann

“…The voltage-gated sodium channel NAV1.8 is expressed in primary nociceptive neurons and is involved in pain transmission. Mutations in the SCN10A gene…”
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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density by Swan, Anna L, Schütt, Christine, Rozman, Jan, Del Mar Muñiz Moreno, Maria, Brandmaier, Stefan, Simon, Michelle, Leuchtenberger, Stefanie, Griffiths, Mark, Brommage, Robert, Keskivali-Bond, Piia, Grallert, Harald, Werner, Thomas, Teperino, Raffaele, Becker, Lore, Miller, Gregor, Moshiri, Ala, Seavitt, John R, Cissell, Derek D, Meehan, Terrence F, Acar, Elif F, Lelliott, Christopher J, Flenniken, Ann M, Champy, Marie-France, Sorg, Tania, Ayadi, Abdel, Braun, Robert E, Cater, Heather, Dickinson, Mary E, Flicek, Paul, Gallegos, Juan, Ghirardello, Elena J, Heaney, Jason D, Jacquot, Sylvie, Lally, Connor, Logan, John G, Teboul, Lydia, Mason, Jeremy, Spielmann, Nadine, McKerlie, Colin, Murray, Stephen A, Nutter, Lauryl M J, Odfalk, Kristian F, Parkinson, Helen, Prochazka, Jan, Reynolds, Corey L, Selloum, Mohammed, Spoutil, Frantisek, Svenson, Karen L, Vales, Taylor S, Wells, Sara E, White, Jacqueline K, Sedlacek, Radislav, Wurst, Wolfgang, Lloyd, K C Kent, Croucher, Peter I, Fuchs, Helmut, Williams, Graham R, Bassett, J H Duncan, Gailus-Durner, Valerie, Herault, Yann, Mallon, Ann-Marie, Brown, Steve D M, Mayer-Kuckuk, Philipp, Hrabe de Angelis, Martin

“…The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored…”
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Role of Amyloid Precursor Protein (APP) and Its Derivatives in the Biology and Cell Fate Specification of Neural Stem Cells by Coronel, Raquel, Bernabeu-Zornoza, Adela, Palmer, Charlotte, Muñiz-Moreno, Mar, Zambrano, Alberto, Cano, Eva, Liste, Isabel

“…Amyloid precursor protein (APP) is a member of the APP family of proteins, and different enzymatic processing leads to the production of several derivatives…”
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder by Courraud, Jérémie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, del Mar Muniz Moreno, Maria, Boujelbene, Imene, Drouot, Nathalie, Genschik, Loréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Mélanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M., Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michèle, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlène, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frédéric, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valérie, Auvin, Stéphane, Khachnaoui, Khaoula, Birling, Marie-Christine, Drunat, Séverine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, Piton, Amélie

“…Purpose DYRK1A syndrome is among the most frequent monogenic forms of intellectual disability (ID). We refined the molecular and clinical description of this…”
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The Human SCN9A R185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice by Xue, Yaping, Kremer, Mélanie, Muniz Moreno, Maria Del Mar, Chidiac, Celeste, Lorentz, Romain, Birling, Marie-Christine, Barrot, Michel, Herault, Yann, Gaveriaux-Ruff, Claire

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The Human SCN10A G1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity by Chidiac, Celeste, Xue, Yaping, Muniz Moreno, Maria Del Mar, Bakr Rasheed, Ameer Abu, Lorentz, Romain, Birling, Marie-Christine, Gaveriaux-Ruff, Claire, Herault, Yann

“…The voltage-gated sodium channel NAV1.8 is expressed in primary nociceptive neurons and is involved in pain transmission. Mutations in the SCN10A gene…”
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