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5,455 results on '"Rosello A"'

1. Noise-Robust Hearing Aid Voice Control

Author

López-Espejo, Iván, Roselló, Eros, Edraki, Amin, Harte, Naomi, and Jensen, Jesper

Subjects
Electrical Engineering and Systems Science - Audio and Speech Processing
Abstract

Advancing the design of robust hearing aid (HA) voice control is crucial to increase the HA use rate among hard of hearing people as well as to improve HA users' experience. In this work, we contribute towards this goal by, first, presenting a novel HA speech dataset consisting of noisy own voice captured by 2 behind-the-ear (BTE) and 1 in-ear-canal (IEC) microphones. Second, we provide baseline HA voice control results from the evaluation of light, state-of-the-art keyword spotting models utilizing different combinations of HA microphone signals. Experimental results show the benefits of exploiting bandwidth-limited bone-conducted speech (BCS) from the IEC microphone to achieve noise-robust HA voice control. Furthermore, results also demonstrate that voice control performance can be boosted by assisting BCS by the broader-bandwidth BTE microphone signals. Aiming at setting a baseline upon which the scientific community can continue to progress, the HA noisy speech dataset has been made publicly available., Comment: Accepted by IEEE Signal Processing Letters

Published
2024

2. ASASVIcomtech: The Vicomtech-UGR Speech Deepfake Detection and SASV Systems for the ASVspoof5 Challenge

Author

Martín-Doñas, Juan M., Roselló, Eros, Gomez, Angel M., Álvarez, Aitor, López-Espejo, Iván, and Peinado, Antonio M.

Subjects
Electrical Engineering and Systems Science - Audio and Speech Processing, Computer Science - Sound
Abstract

This paper presents the work carried out by the ASASVIcomtech team, made up of researchers from Vicomtech and University of Granada, for the ASVspoof5 Challenge. The team has participated in both Track 1 (speech deepfake detection) and Track 2 (spoofing-aware speaker verification). This work started with an analysis of the challenge available data, which was regarded as an essential step to avoid later potential biases of the trained models, and whose main conclusions are presented here. With respect to the proposed approaches, a closed-condition system employing a deep complex convolutional recurrent architecture was developed for Track 1, although, unfortunately, no noteworthy results were achieved. On the other hand, different possibilities of open-condition systems, based on leveraging self-supervised models, augmented training data from previous challenges, and novel vocoders, were explored for both tracks, finally achieving very competitive results with an ensemble system., Comment: This paper was accepted at ASVspoof Workshop 2024

Published
2024

4. Predicting survival, neurotoxicity and response in B-cell lymphoma patients treated with CAR-T therapy using an imaging features-based model

Author

Ferrer-Lores, Blanca, Ortiz-Algarra, Alfonso, Picó-Peris, Alfonso, Estepa-Fernández, Alejandra, Bellvís-Bataller, Fuensanta, Weiss, Glen J., Fuster-Matanzo, Almudena, Fernández, Juan Pedro, Jimenez-Pastor, Ana, Hernani, Rafael, Saus-Carreres, Ana, Benzaquen, Ana, Ventura, Laura, Piñana, José Luis, Teruel, Ana Belén, Serrano-Alcalá, Alicia, Dosdá, Rosa, Sopena-Novales, Pablo, Balaguer-Rosello, Aitana, Guerreiro, Manuel, Sanz, Jaime, Martí-Bonmatí, Luis, Terol, María José, and Alberich-Bayarri, Ángel

Published
2024
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6. Implementation of COVID-19 vaccination services in prison in six European countries: translating emergency intervention into routine life-course vaccination

Author

Mazzilli, Sara, Cocco, Nicola, Petri, Davide, Moazen, Babak, Rosello, Alicia, D’Arcy, Jemima, Plugge, Emma, Baglietto, Laura, Murauer, Eva, Stöver, Heino, Trattonikolas, Tassos, Stylianou, Iakovos, Doltu, Svetlana, Busmachiu, Vladislav, Mavrou, Josefina, Yiasemi, Ioanna, Barbiros, Irina, da Costa, Filipa Alves, Meroueh, Fadi, Ranieri, Roberto, and Tavoschi, Lara

Published
2024
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11. Exploring Intergenerational Interactions Through an Online Storytelling Experience

Author

Eva Cerezo, Teresa Coma-Rosello, Antonio Aguelo, Ana Cristina Blasco-Serrano, and Maria Angeles Garrido

Abstract

Intergenerational games to be played by grandparents and their grandchildren can be mutually beneficial for both age groups: breaking with age stereotypes, linking the learning and leisure needs of both generations and encouraging communication, solidarity, and social connectedness between generations. Due to the COVID-19 pandemic, it was necessary to switch from colocated physical intergenerational play to online experiences. This type of experience, in which grandparents connect from their own houses to participate, represents a challenge in terms of recruiting participants and carrying out the online sessions, due to grandparents' technological insecurities and their reluctance to play videogames. Besides, intergenerational games have to be carefully designed to promote symmetrical interactions, fun, and engagement on the part of both age groups as well as to develop easy to use interfaces. In this work, we present an online storytelling game designed to be played by family teams formed by grandparents and their grandchildren. The guidelines followed, the assessment tools designed to evaluate the intergenerational dynamics and the emotions that arise during the experience are also presented. Results of the three online sessions carried out are presented and discussed.

Published
2024
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12. Predictive and diagnosis models of stroke from hemodynamic signal monitoring

Author

García-Terriza, Luis, Risco-Martín, José L., Roselló, Gemma Reig, and Ayala, José L.

Subjects
Electrical Engineering and Systems Science - Signal Processing, Computer Science - Machine Learning
Abstract

This work presents a novel and promising approach to the clinical management of acute stroke. Using machine learning techniques, our research has succeeded in developing accurate diagnosis and prediction real-time models from hemodynamic data. These models are able to diagnose stroke subtype with 30 minutes of monitoring, to predict the exitus during the first 3 hours of monitoring, and to predict the stroke recurrence in just 15 minutes of monitoring. Patients with difficult access to a \acrshort{CT} scan, and all patients that arrive at the stroke unit of a specialized hospital will benefit from these positive results. The results obtained from the real-time developed models are the following: stroke diagnosis around $98\%$ precision ($97.8\%$ Sensitivity, $99.5\%$ Specificity), exitus prediction with $99.8\%$ precision ($99.8\%$ Sens., $99.9\%$ Spec.) and $98\%$ precision predicting stroke recurrence ($98\%$ Sens., $99\%$ Spec.).

Published
2023
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13. Basement membranes are crucial for proper olfactory placode shape, position and boundary with the brain, and for olfactory axon development

Author

Pénélope Tignard, Karen Pottin, Audrey Geeverding, Mohamed Doulazmi, Mélody Cabrera, Coralie Fouquet, Mathilde Liffran, Jonathan Fouchard, Marion Rosello, Shahad Albadri, Filippo Del Bene, Alain Trembleau, and Marie Anne Breau

Subjects
basement membrane, extracellular matrix, morphogenesis, axon, placode, olfactory, Medicine, Science, Biology (General), QH301-705.5
Abstract

Despite recent progress, the complex roles played by the extracellular matrix in development and disease are still far from being fully understood. Here, we took advantage of the zebrafish sly mutation which affects Laminin γ1, a major component of basement membranes, to explore its role in the development of the olfactory system. Following a detailed characterisation of Laminin distribution in the developing olfactory circuit, we analysed basement membrane integrity, olfactory placode and brain morphogenesis, and olfactory axon development in sly mutants, using a combination of immunochemistry, electron microscopy and quantitative live imaging of cell movements and axon behaviours. Our results point to an original and dual contribution of Laminin γ1-dependent basement membranes in organising the border between the olfactory placode and the adjacent brain: they maintain placode shape and position in the face of major brain morphogenetic movements, they establish a robust physical barrier between the two tissues while at the same time allowing the local entry of the sensory axons into the brain and their navigation towards the olfactory bulb. This work thus identifies key roles of Laminin γ1-dependent basement membranes in neuronal tissue morphogenesis and axon development in vivo.

Published
2024
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14. Myosin 1b regulates intestinal epithelial morphogenesis via interaction with UNC45A

Author

Céline Revenu, Corinne Lebreton, Magda Cannata Serio, Marion Rosello, Rémi Duclaux-Loras, Karine Duroure, Ophélie Nicolle, Fanny Eggeler, Marie-Thérèse Prospéri, Julie Stoufflet, Juliette Vougny, Priscilla Lépine, Grégoire Michaux, Nadine Cerf-Bensussan, Evelyne Coudrier, Franck Perez, Marianna Parlato, and Filippo Del Bene

Subjects
CP: Developmental biology, CP: Cell biology, Biology (General), QH301-705.5
Abstract

Summary: Vesicle trafficking and the establishment of apicobasal polarity are essential processes in epithelial morphogenesis. UNC45A deficiency has been reported in a multi-organ syndrome presenting with severe diarrhea associated with enterocyte polarity defects. Myosin 1b, an actin motor able to bind membranes, regulates membrane shaping and vesicle trafficking. Here, we show that MYO1B is part of the UNC45A interactome. In the absence of UNC45A, myosin 1b is degraded and forms aggregates when proteasome activity is inhibited. In 3D Caco-2 cells, lumen formation is impaired in the absence of myosin 1b, associated with spindle orientation defects, Golgi apparatus fragmentation, and trafficking impairment. In zebrafish larvae, loss of myo1b results in intestinal bulb epithelium folding defects associated with terminal web disorganization and vesicle accumulation, reminiscent of villous atrophy. In conclusion, we show that myosin 1b plays an unexpected role in the development of the intestinal epithelium downstream of UNC45A, establishing its contribution in the gut defects reported in UNC45A patients.

Published
2024
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17. Digital Twins for CCAM Applications – The Case of Augmented CCAM and Beyond

Author

Bekiaris, Evangelos, Gkemou, Maria, Roselló, Ana Martínez, Peris, Rafael, Lidere, Elina, Elkenawy, Amr, Kadikis, Roberts, Ozols, Kaspars, Ghosh, Bidisha, Bharathi, Dhivya, Buckley, Tadhg, Gruyer, Dominique, Hedhli, Abdelmename, Papandreou, Maria, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Kabashkin, Igor, editor, Yatskiv, Irina, editor, and Prentkovskis, Olegas, editor

Published
2024
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23. Model and Methodology for Developing Empathy: An Experience in Computer Science Engineering

Author

Sanz, Cecilia, Coma-Rosello, Teresa, Aguelo, Antonio, Alvarez, Pedro, and Baldassarri, Sandra

Abstract

Contribution: This article proposes and applies a new systemic 3-D model and a methodology for empathy awareness and development, integrating different partial approaches found in the literature for developing empathy as a transversal competence. Background: Empathy is a competence linked to collaboration and teamwork. Perspective taking (PT) is an important component of empathy and it is key for professionals today. Even though empathy is valued in computer science engineering (CSE) courses, it is not yet fully addressed as an integral part of the training process. Intended Outcomes: Both the model and the methodology are put into practice with a group of first-year CSE students, highlighting the possibilities of the proposal for this course of studies. The experience presented here is an example of a classroom activity in which awareness and PT are addressed, as key components, in relation to the collaborative work toward achieving empathy. Application Design: The methodological proposal is applied to guide educators' decisions so that they can work on empathy in the classroom. Responses to several standardized and ad-hoc questionnaires by students from two universities are analyzed. Findings: The results revealed low to medium empathy levels in participating students, but a higher perception of their own empathic ability. The proposed methodology allows students to become aware of and develop some initial changes in relation to empathy, particularly in its PT component, through classroom work.

Published
2023
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24. Effects of Anxiety, Stress and Perceived Social Support on Depression and Loneliness Among Older People During the COVID-19 Pandemic: A Cross-Sectional Path Analysis

Author

Maryam Farhang PhD, Izaskun Álvarez-Aguado PhD, Javier Celis Correa MSc, Maria Cecilia Toffoletto PhD, Miguel Rosello-Peñaloza PhD, and Claudia Miranda-Castillo PhD

Subjects
Public aspects of medicine, RA1-1270
Abstract

During the COVID-19 pandemic, older people were exposed to high levels of anxiety and stress leading to loneliness and depressive disorders. The purpose of the present study was to investigate the effects of anxiety, positive coping, perceived social support, and perceived stress on depression and loneliness among older people during the COVID-19 pandemic. This was a cross-sectional online/telephone survey. A non-probability convenience sampling method was used. Participants were 112 people aged 60 years and above, without cognitive impairment, who experienced confinement (from March 2020 onward) and had access to the internet or telephone. A path analysis model showed a direct significant effect of anxiety on both, depression (β = .68, P

Published
2024
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27. Spanish catheter ablation registry. 23rd official report of the Heart Rhythm Association of the Spanish Society of Cardiology (2023)

Author

Bazan, Victor, Arana, Eduardo, Rubio-Campal, José Manuel, Calvo, David, Álvarez Acosta, Luis, Hernández Afonso, Julio, Ramos Ardanaz, Pablo, Peñafiel Verdú, Pablo, Cano Calabria, Lucas R., Barrera Cordero, Alberto, Díaz Infante, Ernesto, Cózar León, Rocío, Lozano Granero, Vanesa Cristina, Martínez Sande, José Luis, Moya Mitjans, Àngel, Rodríguez Entem, Felipe, Salgado Aranda, Ricardo, Gil Ortega, Ignacio, Cabanas Grandío, Pilar, Alcalde Rodriguez, Óscar, García Fernández, Francisco Javier, Sarquella-Brugada, Georgia, Castro Urda, Víctor, Fidalgo Andrés, María Luisa, Durán Guerrero, J. Manuel, Mazuelos Bellido, Francisco, Rubio Caballero, Jose Amador, Pérez Roselló, Víctor, Cabrera Ramos, Mercedes, Rubio Campal, José Manuel, Porta Sánchez, Andreu, Hidalgo Olivares, Víctor M., Rubín López, José Manuel, Jiménez López, Jesús, Grande Morales, Carlos Eugenio, Fernández Gómez, Juan Manuel, Jiménez Candil, Javier, Moreno Garrido, Rafael, Moraleda Salas, María Teresa, Rodríguez Muñoz, Daniel, Vázquez Esmorís, Iván, Ibáñez Criado, José Luis, Ibáñez Criado, Alicia, Arcocha Torres, María Fe, Bastos Amador, Pablo, Elices Teja, Juliana, Pavón Jiménez, Ricardo, Álvarez López, Miguel, Martín Sánchez, Gabriel, Benezet Mazuecos, Juan, Gómez Pulido, Federico, Arce León, Alvaro, Quesada Dorador, Aurelio, Mendoza Lemes, Haridian, Herreros Guilarte, Benito, Osca Asensi, Joaquín, Datino Romaniega, Tomás, Sarrias, Axel, Ferrer Hita, Julio Jesús, Lozano Herrera, José Miguel, Ángel Arias, Miguel, Rivas Gandara, Nuria, Sánchez Borque, Pepa, García Cuenca, Enrique, Bochard Villanueva, Bruno, Alonso Fernández, Pau, Valverde André, Irene, Sandín Fuentes, María de Gracia, Pastor Fuentes, Agustín, Portales Fernández, Javier, Ruiz Hernández, Pablo M., Guasch Casany, Eduard, Pedrote, Alonso, Asso Abadía, Antonio, Guerra Ramos, Jose Maria, Anguera, Ignasi, Cantalapierda, Javier, Sainz Godoy, Íñigo, Domínguez Mafé, Eloy, Rodriguez Font, Enrique, Martí Almor, Julio, Moreno Arribas, José, Merino Llorens, José Luis, Bertomeu González, Vicente, Benito Martín, Eva María, Mosquera Pérez, Ignacio, Peláez González, Antonio, Jiménez Díaz, Francisco Javier, Saurí Ortiz, Assumpció, Luque Lezcano, Antonio Óscar, Segura Villalobos, Federico, Almendral Garrote, Jesús, Salvador Montañés, Óscar, González Ferrer, Juan José, Peinado Peinado, Rafael, Fabregat Andrés, Óscar, Arenal, Ángel, Moreno, Sara, and del Castillo, Álvaro Marco

Published
2024
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29. Phase 2 study of the antitumour activity and safety of simlukafusp alfa (FAP-IL2v) combined with atezolizumab in patients with recurrent and/or metastatic cervical squamous cell carcinoma

Author

Verlingue, Loic, Italiano, Antoine, Prenen, Hans, Guerra Alia, Eva Maria, Tosi, Diego, Perets, Ruth, Lugowska, Iwona, Moiseyenko, Vladimir, Gumus, Mahmut, Arslan, Cagatay, Lindsay, Colin R., Deva, Sanjeev, Taus, Álvaro, Oaknin, Ana, Rottey, Sylvie, Cicin, Irfan, Goksu, Sema Sezgin, Smolin, Alexey, Roselló-Keränen, Susana, Habigt, Christin, Marbach, Daniel, Boetsch, Christophe, Dejardin, David, Sleiman, Nassim, Evers, Stefan, Richard, Muriel, Ardeshir, Caroline, Charo, Jehad, Kraxner, Anton, Teichgräber, Volker, Keshelava, Nino, and Dziadziuszko, Rafal

Published
2024
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31. Tiempos y condiciones de almacenamiento de las muestras en anatomía patológica. Recomendaciones de la Sociedad Española de Anatomía Patológica parte 1: muestras destinadas al diagnóstico

Author

Tresserra Casas, Francesc, Rosello Sastre, Esther, Fernández Aceñero, María Jesús, Zaragoza Macián, Lara, Azúa Romeo, Javier, Alfaro-Cervelló, Clara, Navarro Fos, Samuel, García Fernández, Eugenia, Temprana-Salvador, Jordi, Iglesias Coma, Mar, Olivares Vegas, Francesc, Fernández Figueras, Maite, Aso Manso, Sonsoles, Aguirre Anda, José Javier, Salas Valién, José Santos, Álvarez Alegret, Ramiro, Hernández Losa, Javier, Jou Muñoz, Cristina, Dinarès Fernández, Carme, Urbano Carrillo, Marina, Béjar Valera, Javier, Chappuis de Oliveira, César, Centeno Haro, Macarena, Leiva-Cepas, Fernando, and Martínez Lorente, Antonio

Published
2024
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32. Recomendaciones de la SEAP-IAP para la recolección, el almacenamiento y el uso de materiales biológicos de origen humano y los datos relacionados, destinados a la investigación. Consideración genérica de biobanco y revisión ético-legal (Parte II)

Author

Martínez Lorente, Antonio, Rosello Sastre, Esther, Jesús Fernández Aceñero, María, Zaragoza Macián, Lara, Azúa Romeo, Javier, Alfaro-Cervelló, Clara, Navarro, Samuel, García Fernández, Eugenia, Temprana-Salvador, Jordi, Iglesias Coma, Mar, Olivares Vegas, Francesc, Fernández Figueras, Maite, Aso Manso, Sonsoles, Aguirre Anda, José Javier, Salas Valién, José Santos, Álvarez Alegret, Ramiro, Hernández Losa, Javier, Jou Muñoz, Cristina, Dinarès Fernández, Carme, Urbano Carrillo, Marina, Béjar Valera, Javier, Chappuis de Oliveira, César, Centeno Haro, Macarena, Leiva Cepas, Fernando, and Tresserra Casas, Francesc

Published
2024
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33. Risk-prediction models in postmenopausal patients with symptoms of suspected ovarian cancer in the UK (ROCkeTS): a multicentre, prospective diagnostic accuracy study

Author

Kent, Robert, Rosello, Natalia, Malhotra, Vivek, Jermy, Karen, Duncan, Tim, Ames, Victoria, Sharma, Aarti, Sinha, Anju, Tarang, Majmudar, Ciara, Mackenzie, Hebblethwaite, Neil, Exley, Kendra, Macdonald, Robert, Harmer, Marianne, Hughes, Tracey, Parker, Rob, Darwish, Ahmed, Abedin, Parveen, Balogun, Moji, Ramsay, Bruce, Moshy, Roger, Roberts, Mark, Russell, Michelle, Sayasneh, Ahmad, Abdelbar, Ahmed, Abdi, Shahram, Palmer, Julia, Gajjar, Ketankumar, Blake, Dominic, Naskretski, Adam, Ghazal, Fateh, Rai, Harinder, Keating, Patrick, Wood, Nicholas, Gnanachandran, Chellappah, Alawad, Hafez, Kaushik, Sonali, Baron, Sonali, Vita, Lavanya, Nagar, Hans, Manchanda, Ranjit, Sundar, Sudha, Agarwal, Ridhi, Davenport, Clare, Scandrett, Katie, Johnson, Susanne, Sengupta, Partha, Selvi-Vikram, Radhika, Kwong, Fong Lien, Mallett, Sue, Rick, Caroline, Kehoe, Sean, Timmerman, Dirk, Bourne, Tom, Van Calster, Ben, Stobart, Hilary, Neal, Richard D, Menon, Usha, Gentry-Maharaj, Alex, Sturdy, Lauren, Ottridge, Ryan, and Deeks, Jon

Published
2024
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36. Predictors of outcomes after internal fixation of periprosthetic femoral hip fractures Subgroup analysis of the peri-implant and peri-prosthetic fractures Spanish registry (PIPPAS)

Author

Andrés-Peiró, José Vicente, Nomdedéu, Josep, Aguado, Héctor J, González-Morgado, Diego, Minguell-Monyart, Joan, Joshi-Jubert, Nayana, Teixidor-Serra, Jordi, Tomàs-Hernández, Jordi, Selga-Marsà, Jordi, García-Sánchez, Yaiza, Noriega-González, David C, Mateos-Álvarez, Elvira, Pereda-Manso, Adela, Cervera-Díaz, M Carmen, Balvis-Balvis, Patricia, García-Pérez, Ángela, Rodríguez-Arenas, Mónica, Castro-Menéndez, Manuel, Moreta, Jesús, Olías-López, Beatriz, Amaya-Espinosa, Patricia, Boluda-Mengod, Juan, Bárcena-Goitilandia, Leopoldo, Blas-Dobón, José Antonio, Freile-Pazmiño, Patricio, Castillón, Pablo, Lanuza-Lagunilla, Lucía, Cabria-Fernández, Julián, Valle-Cruz, José, García-Coiradas, Javier, Bonome-Roel, César, Cano-Leira, María de los Ángeles, Benjumea-Carrasco, Antonio, Chico-García, Marcos, Fernández-Juan, Alexis, Saura-Sánchez, Eladio, Sánchez-Gómez, Plácido, Ricón-Recarey, Francisco Javier, García-García, Elena María, Medrano-Morte, Isabel, Cuadrado-Abajo, Francisco, Pérez-Núñez, María I, García-González, Sara, Pozo-Manrique, Pedro Del, García-Navas-García, Francisco Manuel, García-Paredero, Ester, Guijarro-Valtueña, Ainhoa, Navas-Pernía, Inés, Videla-Cés, Miquel, Muñoz-Vives, Josep M, Querolt-Coll, Jordi, Triana-López de Santamaría, Guillermo, Serra-Porta, Teresa, Carrasco-Becerra, M Carmen, Pena-Paz, Silvia, Otero-Naveiro, Víctor, Fernández-Dorado, Fátima, Martínez-Menduiña, Amaia, Galián-Muñoz, Elena, Hernández, José M, Renau-Cerrillo, Marina, Campuzano-Bitterling, Borja, Carreras-Castañer, Anna, Vives-Barquiel, Marian, Camacho-Carrasco, Pilar, Jornet-Gibert, Montsant, Muñoz-Vicente, Adrián, Gámez-Asunción, Carla, Plaza-Salazar, Nuria, Benito-Santamaría, Jennifer, Cuenca-Copete, Alejandro, Alonso-Viana, Laura, Mingo-Robinet, Juan, Briso-Montiano, Ricardo, Barbería-Biurrun, Amaya, Chouza-Montero, Laura, Ojeda-Thies, Cristina, Ajuria-Fernández, Eliam, Díaz-Suárez, Rebeca, Gasset-Teixidor, Alfons, Domínguez-Ibarrola, Andrea, Gosálbez, Javier, Pérez-Hevia, Imanol, Riera-Álvarez, Luís, Roche-Albero, Adrián, Macho-Mier, María, Criado-Albillos, Guillermo, Cabello-Benavides, Hugo Gabriel, Cunchillos-Pascual, Jorge, Saló-Cuenca, José Carlos, Espona-Roselló, Jordi, Salamanca-Ontiveros, César, García-Portabella, Pablo, Martínez-Íñiguez Blasco, Jorge, Sevilla-Ortega, Paloma, Cano-Porras, Juan Ramón, Martínez-Díaz, Santos, Carabelli, Guido Sebastián, Slullitel, Pablo, Astore, Ignacio, Hernández-Pascual, Carlos, Marín-Sánchez, Javier, Córdova-Peralta, Julio C, Sánchez-Hernández, Natalia, García-García, Guillermo, Rodríguez-Gangoso, Alfredo, Pérez-Sánchez, José María, Piñeiro-Borrero, Ana, Mandía-Martínez, Alfonso, De Caso-Rodríguez, Julio, Benito-Mateo, Miguel, Murillo-Vizuete, Antonio D, Herrán-Núnez, Gaspar De La, Nunes-Ugarte, Nahikari, Pérez-Salazar, Nicolás Elizalde, De Sande-Díaz, María, García-Fuentes, Xoan D, de Cortázar-Antolín, Unai García, and Sánchez, Daniel Escobar

Published
2024
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37. ctDNA whole exome sequencing in pancreatic ductal adenocarcinoma unveils organ-dependent metastatic mechanisms and identifies actionable alterations in fast progressing patients

Author

Huerta, Marisol, Martín-Arana, Jorge, Gimeno-Valiente, Francisco, Carbonell-Asins, Juan Antonio, García-Micó, Blanca, Martínez-Castedo, Belén, Robledo-Yagüe, Fabián, Camblor, Daniel G., Fleitas, Tania, García Bartolomé, Miguel, Alfaro-Cervelló, Clara, Garcés-Albir, Marina, Dorcaratto, Dimitri, Muñoz-Forner, Elena, Seguí, Víctor, Mora-Oliver, Isabel, Gambardella, Valentina, Roselló, Susana, Sabater, Luis, Roda, Desamparados, Cervantes, Andrés, and Tarazona, Noelia

Published
2024
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38. De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

Author

Riva, Martina, Ferreira, Sofia, Hayashi, Kotaro, Saillour, Yoann, Medvedeva, Vera P., Honda, Takao, Hayashi, Kanehiro, Altersitz, Claire, Albadri, Shahad, Rosello, Marion, Dang, Julie, Serafini, Malo, Causeret, Frederic, Henry, Olivia J., Roux, Charles-Joris, Bellesme, Celine, Freri, Elena, Josifova, Dragana, Parrini, Elena, Guerrini, Renzo, Del Bene, Filippo, Nakajima, Kazunori, Bahi-Buisson, Nadia, and Pierani, Alessandra

Subjects
Diagnosis, Care and treatment, Genetic aspects, Health aspects, Cell migration -- Health aspects -- Genetic aspects, Genetic variation -- Health aspects, Nervous system diseases -- Diagnosis -- Care and treatment -- Genetic aspects
Abstract

Introduction The neocortex is composed of 6 layers that are built during embryonic development through highly orchestrated processes of successive generation of cohorts of glutamatergic neurons in the proliferative zones [...], Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical abnormalities. However, the functional effects of RELN variants remain unknown. We identified inherited and de novo RELN missense variants in heterozygous patients with neuronal migration disorders (NMDs) as diverse as pachygyria and polymicrogyria. We investigated in culture and in the developing mouse cerebral cortex how different variants impacted RELN function. Polymicrogyria-associated variants behaved as gain-of-function, showing an enhanced ability to induce neuronal aggregation, while those linked to pachygyria behaved as loss-of-function, leading to defective neuronal aggregation/migration. The pachygyria-associated de novo heterozygous RELN variants acted as dominant-negative by preventing WT RELN secretion in culture, animal models, and patients, thereby causing dominant NMDs. We demonstrated how mutant RELN proteins in vitro and in vivo predict cortical malformation phenotypes, providing valuable insights into the pathogenesis of such disorders.

Published
2024
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48. Human recombinant relaxin-2 (serelaxin) regulates the proteome, lipidome, lipid metabolism and inflammatory profile of rat visceral adipose tissue

Author

Aragón-Herrera, Alana, Feijóo-Bandín, Sandra, Vázquez-Abuín, Xocas, Anido-Varela, Laura, Moraña-Fernández, Sandra, Bravo, Susana B., Tarazón, Estefanía, Roselló-Lletí, Esther, Portolés, Manuel, García-Seara, Javier, Seijas, José, Rodríguez-Penas, Diego, Bani, Daniele, Gualillo, Oreste, González-Juanatey, José Ramón, and Lago, Francisca

Published
2024
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49. Impact of age on the outcomes of Takotsubo syndrome

Author

Simon Frances, Blanca, Sans-Roselló, Jordi, Brugaletta, Salvatore, Cerrato, Enrico, Alfonso, Fernando, Gonzalo, Nieves, Amat-Santos, Ignacio J., Fernández-Peregrina, Estefanía, Teira Calderón, Andrea, Varghese, Jobin Joseph, Garg, Mohil, and García-García, Héctor M.

Published
2024
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