Browsing by Author "Cormand, Bru"

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  • A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome
    Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla-Vallmanya, Laura; Tonda, Raúl; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Research, 2018)
    De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically ...
  • A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
    Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)
    Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
  • Active and passive MDMA ('ecstasy') intake induces differential transcriptional changes in the mouse brain
    Fernández Castillo, Noelia; Orejarena Serrano, María-Juliana, 1980-; Ribasés, Marta; Casas, Miguel; Robledo, Patricia, 1958-; Maldonado, Rafael, 1961-; Cormand, Bru (Wiley-Blackwell, 2012)
    3,4-Methylenedioxymethamphetamine (MDMA, 'ecstasy') is a recreational drug widely used by adolescents and young adults. Although its rewarding effects are well established, there is controversy on its addictive potential. ...
  • Differential expression of miR-1249-3p and miR-34b-5p between vulnerable and resilient phenotypes of cocaine addiction
    Domingo Rodriguez, Laura, 1992-; Cabana-Domínguez, Judit; Fernàndez-Castillo, Noèlia; Cormand, Bru; Martín García, Elena, 1975-; Maldonado, Rafael, 1961- (Wiley, 2022)
    Cocaine addiction is a complex brain disorder involving long-term alterations that lead to loss of control over drug seeking. The transition from recreational use to pathological consumption is different in each individual, ...
  • Exploring the contribution to ADHD of genes involved in Mendelian disorders presenting with hyperactivity and/or inattention
    Fernàndez-Castillo, Noèlia; Cabana-Domínguez, Judit; Kappel, Djenifer B.; Torrico, Bàrbara; Weber, Keike; Lesch, Klaus-Peter; Lao Grueso, Oscar, 1976-; Reif, Andreas; Cormand, Bru (MDPI, 2021)
    Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We ...
  • Frustrated expected reward induces differential transcriptional changes in the mouse brain
    Martín García, Elena, 1975-; Fernández Castillo, Noelia; Burokas, Aurelijus, 1982-; Gutiérrez Cuesta, Javier; Sánchez-Mora, Cristina; Casas, Miguel; Ribasés, Marta; Cormand, Bru; Maldonado, Rafael, 1961- (Wiley, 2015)
    Frustration represents a particular aspect of the addictive process that is related to loss of control when the expected reward is not obtained. We aim to study the consequences of frustrated expected reward on gene ...
  • Fusion of the human gene for the polyubiquitination co-effector UEV-1 with Kua, a newly identified gene
    Thomson, Timothy M.; Lozano, Juan José; Loukili, Noureddine; Carrió, Roberto; Serras Rigalt, Florenci; Cormand, Bru; Valeri, Marta; Díaz, Víctor M.; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Merino, Jesús; Macaya, Alfons; Corominas Guiu, Montserrat; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    UEV proteins are enzymatically inactive variants of the E2 ubiquitin-conjugating enzymes that regulate noncanonical elongation of ubiquitin chains. In Saccharomyces cerevisiae, UEV is part of the RAD6-mediated error-free ...
  • Gene-wide association study reveals RNF122 ubiquitin ligase as a novel susceptibility gene for attention deficit hyperactivity disorder
    Garcia Martínez, Iris; Sánchez-Mora, Cristina; Soler Artigas, María; Rovira, Paula; Pagerols, Mireia; Corrales, Montse; Calvo Sánchez, Eva; Richarte, Vanesa; Bustamante Pineda, Mariona; Sunyer Deu, Jordi; Cormand, Bru; Casas, Miguel; Ramos Quiroga, Josep Antoni; Ribasés, Marta (Nature Publishing Group, 2017)
    Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. ...
  • Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples
    Esteller-Cucala, Paula; Maceda Porto, Iago, 1986-; Børglum, Anders D.; Demontis, Ditte; Faraone, Stephen V.; Cormand, Bru; Lao Grueso, Oscar, 1976- (Nature Research, 2020)
    Attention-deficit/hyperactivity disorder (ADHD) is an impairing neurodevelopmental condition highly prevalent in current populations. Several hypotheses have been proposed to explain this paradox, mainly in the context of ...
  • miRNA signatures associated with vulnerability to food addiction in mice and humans
    García Blanco, Alejandra; Domingo Rodriguez, Laura, 1992-; Cabana-Domínguez, Judit; Fernández-Castillo, Noèlia; Pineda-Cirera, Laura; Mayneris Perxachs, Jordi; Burokas, Aurelijus, 1982-; Espinosa-Carrasco, José; Arboleya, Silvia; Latorre, Jessica; Stanton, Catherine; Cormand, Bru; Fernández Real, Jose M.; Martín-García, Elena; Maldonado, Rafael, 1961- (American Society for Clinical Investigation, 2022)
    Food addiction is characterized by a loss of behavioral control over food intake and is associated with obesity and other eating disorders. The mechanisms underlying this behavioral disorder are largely unknown. We aimed ...
  • Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
    Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru (Nature Publishing Group, 2017)
    Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it ...
  • Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
    Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru (Wiley, 2013)
    Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have ...