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11 p, 1022.6 KB |
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
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Amor-Salamanca, Almudena (Health in Code SL) ;
Santana Rodríguez, Alfredo (Universidad de Las Palmas de Gran Canaria) ;
Rasoul, Hazhee (St. Bartholomew's Hospital) ;
Rodríguez-Palomares, José F. (Hospital Universitari Vall d'Hebron) ;
Moldovan, Oana (Centro Hospitalar Universitário Lisboa Norte) ;
Hey, Thomas Morris (Odense University Hospital) ;
Gallego-Delgado, María (Instituto de Salud Carlos III) ;
Cuenca, David López (Hospital Clínico Universitario Virgen de la Arrixaca) ;
de Castro Campos, Daniel (Hospital Universitario Puerta de Hierro) ;
Basurte-Elorz, María Teresa (Complejo Hospitalario de Navarra) ;
Macías-Ruiz, Rosa (Instituto de Investigación Biosanitaria de Granada) ;
Fuentes Cañamero, María Eugenia (Hospital Universitario de Badajoz) ;
Galvin, Joseph (University College Dublin School of Medicine) ;
Bilbao Quesada, Raquel (Hospital Álvaro Cunqueiro) ;
de la Higuera Romero, Luis (Health in Code SL) ;
Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
García-Cruz, Loida María (Universidad de Las Palmas de Gran Canaria) ;
Cárdenas-Reyes, Ivonne (Health in Code SL) ;
Jiménez-Jáimez, Juan (Hospital Universitario Virgen de las Nieves) ;
García-Hernández, Soledad (Hospital Universitario San Cecilio) ;
Valverde-Gómez, María (Hospital Universitario 12 de Octubre) ;
Gómez-Díaz, Iria (Health in Code SL) ;
Limeres Freire, Javier (Hospital Universitari Vall d'Hebron) ;
García-Pinilla, José Manuel (Universidad de Málaga) ;
Gimeno-Blanes, Juan R. (Hospital Clínico Universitario Virgen de la Arrixaca) ;
Savattis, Konstantinos (Queen Mary University of London) ;
García-Pavía, Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Ochoa, Juan Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Universitat Autònoma de Barcelona
Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. [...]
2024 -  10.1161/CIRCGEN.123.004404
Circulation. Genomic and precision medicine, Vol. 17 (february 2024) , p. e004404
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10 p, 567.2 KB |
Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes : Clinical and Radiological Similarities and Specificities
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Ruiz Barrio, Iñigo (Institut d'Investigació Biomèdica Sant Pau) ;
Horta, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that eventually may result in PSP phenotype. [...]
2022 - 10.3389/fneur.2022.861585
Frontiers in neurology, Vol. 13 (26 2022) , p. 861585
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3.
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12 p, 280.0 KB |
Alzheimer's disease research progress in the Mediterranean region : The Alzheimer's Association International Conference Satellite Symposium
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Sexton, Claire (Alzheimer's Association (Illinois, Estats Units)) ;
Solis, Michele (Freelance science writer (Washington, Estats Units)) ;
Aharon-Peretz, Judith (Rappapaort School of Medicine (Haifa, Israel)) ;
Alexopoulos, Panagiotis (University of Patras (Grècia)) ;
Apostolova, Liana G. (Indiana University (Bloomington, Estats Units)) ;
Bayen, Eléonore (University of California San Francisco (California, Estats Units)) ;
Birkenhager, Betty (University Medical Center Groningen (Groningen, Països Baixos)) ;
Cappa, Stefano (IRCCS Mondino Foundation (Pavia, Itàlia)) ;
Constantinidou, Fofi (University of Cyprus (Nicosia, Xipre)) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Gerritsen, Debby L. (Radboud Medical Center Nijmegen (Nijmegen, Països Baixos)) ;
Hassanin, Hany I. (Ain Shams University (El Caire, Egipte)) ;
Ibáñez, Agustín (Universidad de San Andres & National Scientific and Technical Research Council (CONICET) (Buenos Aires, Argentina)) ;
Ioannidis, Panagiotis (Aristotle University of Thessaloniki (Thessaloniki, Grècia)) ;
Karageorgiou, Elissaios (Neurological Institute of Athens (Atenes, Grècia)) ;
Korczyn, Amos (Tel Aviv University (Tel Aviv, Israel)) ;
Leroi, Iracema (Trinity College Dublin (Dublín, Irlanda)) ;
Lichtwarck, Bjorn (Innlandet Hospital Trust (Ottestad, Noruega)) ;
Logroscino, Giancarlo (University Aldo Moro Bari (Bari, Itàlia)) ;
Lynch, Chris (Alzheimer's Disease International (Londres, Regne Unit))) ;
Mecocci, Patrizia (University of Perugia (Perugia, Itàlia)) ;
Molinuevo, José Luis (Barcelonaβeta Brain Research Center (BBRC)) ;
Papatriantafyllou, John (Ana Aslan International Foundation) ;
Papegeorgiou, Sokratis (National and Kapodistrian University of Athens (Atenes, Grècia)) ;
Politis, Antonis (National and Kapodistrian University of Athens (Atenes, Grècia)) ;
Raman, Rema (University of Southern California (California, Estats Units)) ;
Ritchie, Karen (Institut National de la Santé et de la Recherche Médicale (França)) ;
Sanchez-Juan, Pascual (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Sano, Mary (The Mount Sinai Hospital (New York, Estats Units)) ;
Scarmeas, Nikolas (Columbia University (New York, Estats Units)) ;
Spiru, Luiza (Ana Aslan International Foundation) ;
Stathi, Afroditi (University of Birmingham (Regne Unit)) ;
Tsolaki, Magda (Aristotle University of Thessaloniki (Macedonia, Grècia)) ;
Yener, Gorsev (Izmir University of Economics (Izmir, Turquia)) ;
Zaganas, Ioannis (University of Crete (Creta, Grècia)) ;
Zygouris, Stelios (Centre for Research and Technology Hellas/ Information Technologies Institute (Thessaloniki, Grècia)) ;
Carrillo, Maria (Alzheimer's Association (Illinois, Estats Units)) ;
Universitat Autònoma de Barcelona
As research and services in the Mediterranean region continue to increase, so do opportunities for global collaboration. To support such collaborations, the Alzheimer's Association was due to hold its seventh Alzheimer's Association International Conference Satellite Symposium in Athens, Greece in 2021. [...]
2022 - 10.1002/alz.12588
Alzheimer's & Dementia, Vol. 18 Núm. 10 (october 2022) , p. 1957-1968
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13 p, 2.6 MB |
Synergic kinetic and physiological control to improve the efficiency of Komagataella phaffii recombinant protein production bioprocesses
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Sales-Vallverdú, Albert (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental) ;
Gasset Franch, Arnau (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental) ;
Requena-Moreno, Guillermo (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental) ;
Valero Barranco, Francisco (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental) ;
Montesinos Seguí, José Luis (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental) ;
Garcia-Ortega, Xavier (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental)
The yeast Komagataella phaffii (Pichia pastoris) is currently considered a versatile and highly efficient host for recombinant protein production (RPP). Interestingly, the regulated application of specific stress factors as part of bioprocess engineering strategies has proven potential for increasing the production of recombinant products. [...]
2024 - 10.1111/1751-7915.14411
Microbial biotechnology, Vol. 17, Issue 2 (February 2024) , art. e14411
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10 p, 2.7 MB |
New genetic drivers in hemorrhagic hereditary telangiectasia
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Cerdà, Pau (Institut d'Investigació Biomèdica de Bellvitge) ;
Castillo, Sandra D. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Aguilera, Cinthia (Institut d'Investigació Biomèdica de Bellvitge) ;
Iriarte, Adriana (Institut d'Investigació Biomèdica de Bellvitge) ;
Rocamora, José Luis (Institut d'Investigació Biomèdica de Bellvitge) ;
Larrinaga, Ane M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Viñals, Francesc (Institut d'Investigació Biomèdica de Bellvitge) ;
Graupera, Mariona (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Riera Mestre, Antoni (Institut d'Investigació Biomèdica de Bellvitge)
Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in around 90% of the patients; also 2% of patients harbor pathogenic variants at SMAD4 and GDF2. [...]
2024 - 10.1016/j.ejim.2023.08.024
European Journal of Internal Medicine, Vol. 119 (january 2024) , p. 99-108
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9 p, 1.2 MB |
Genetic variants of CTLA4 are associated with clinical outcome of patients with multiple myeloma
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Gonzalez-Montes, Yolanda (Universitat de Girona) ;
Rodriguez-Romanos, Rocío (Universitat de Girona) ;
Villavicencio, Alicia (Universitat de Girona) ;
Osca-Gelis, Gemma (Universitat de Girona) ;
González-Bártulos, Marta (Universitat de Girona) ;
Llopis, Francesca (Universitat de Girona) ;
Clapes, Victòria (Hospital Universitari de Bellvitge) ;
Oriol, Albert (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Sureda, Anna (Hospital Universitari de Bellvitge) ;
Escoda, Lourdes (Universitat Rovira i Virgili) ;
Sarrà, Josep (Universitat Rovira i Virgili) ;
Garzó, Ana (Universitat de Girona) ;
Lloveras, Natàlia (Universitat de Girona) ;
Díez, Isabel (Universitat de Girona) ;
Granada, Isabel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Gallardo, David (Universitat de Girona)
Immune dysfunction in patients with multiple myeloma (MM) affects both the innate and adaptive immune system. Molecules involved in the immune checkpoint pathways are essential to determine the ability of cancer cells to escape from the immune system surveillance. [...]
2023 - 10.3389/fimmu.2023.1158105
Frontiers in immunology, Vol. 14 (april 2023)
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26 p, 183.5 KB |
Natural Selection and the Nature of Statistical Explanations
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Deulofeu Batllori, Roger (Universitat Autònoma de Barcelona. Departament de Filosofia)
Existe una interpretación filosófica aceptada de la selección natural en la teoría evolutiva: la selección natural, junto con la mutación, la migración y la deriva, se consideran fuerzas que impulsan la evolución de las poblaciones. [...]
There is a widespread philosophical interpretation of natural selection in evolutionary theory: natural selection, like mutation, migration, and drift are seen as forces that propel the evolution of populations. [...]
2023 - 10.22201/iifs.18704905e.2023.1465
Critica. Revista Hispanoamericana de Filosofia, Vol. 55 Núm. 165 (2023) , p. 27-52
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30 p, 436.7 KB |
Frascos de cristal, plátanos y moscas : género, emociones y prácticas de la genética de Drosophila
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Velasco Martín, Marta (Universidad de Castilla-La Mancha. Departamento de Ciencias Médicas)
Los plátanos y los tarros de cristal fueron y son componentes de la cultura material de la genética de Drosophila, como lo fueron y son también las moscas que crecían en su interior. Estos objetos son objetos híbridos -materiales, sensoriales y emocionales-, que circularon entre el campo y el laboratorio, entre las aulas, puestos de investigación y cocinas de las casas de quienes se dedicaron a los estudios de la herencia y la evolución. [...]
Bananas and glass jars were and are components of the material culture of Drosophila genetics. These hybrid (material, sensory and emotional) objects circulated between the field and the laboratory and among the classrooms, research stations, and kitchens of those who dedicated themselves to studies of heredity and evolution. [...]
2023
Dynamis : Acta Hispanica ad Medicinae Scientiarumque. Historiam Illustrandam, Vol. 43 Núm. 2 (2023) , p. 429-458 (Dossier)
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9.
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9 p, 1.2 MB |
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
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Xiol, Clara (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Vidal, Silvia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Pascual-Alonso, Ainhoa (Hospital Sant Joan de Déu (Manresa)) ;
Blasco-Pérez, Laura (Hospital Sant Joan de Déu (Manresa)) ;
Brandi Tarrau, Núria Mercedes (Universitat de Barcelona) ;
Pacheco, Paola (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gerotina, Edgar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
O'Callaghan, Maria del Mar (Hospital Sant Joan de Déu (Manresa)) ;
Pineda, Mercè (Institut de Recerca Sant Joan de Déu) ;
Armstrong, Judith (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aguirre, Francisco Javier (Hospital Torrecárdenas) ;
Aleu, Montserrat (Hospital General Universitario de Valencia) ;
Alonso, Xènia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Alsius, Mercè (Hospital Universitari de Girona Doctor Josep Trueta) ;
Amorós, Maria Inmaculada (Hospital Punta Europa) ;
Antiñolo Gil, Guillermo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aquino, Lourdes (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Arellano, Carmen (Consorci Sanitari) ;
Arriola, Gema (Hospital Universitario de Guadalajara) ;
Arteaga, Rosa (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Barcos, Montserrat (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
Belzunces, Nuria (Balagué Center) ;
Boronat, Susanna (Hospital Universitari Vall d'Hebron) ;
Camacho, Tomás (Lema & Bandin Laboratorios) ;
Campistol, Jaume (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ;
Campo, Andrea (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cancho, Ramon (Hospital Universitario Río Hortega (Valladolid)) ;
Candau, Ramon (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Canós, Ignacio (Hospital Universitari Doctor Peset (València)) ;
Carrascosa, María del Carmen (Complejo Hospitalario Universitario de Albacete) ;
Carratalá-Marco, Francisco (Hospital Universitari San Juan) ;
Casano, Jovaní (Consorci Hospitalari Provincial de Castelló) ;
Castro, Pedro (Hospital General Universitario Gregorio Marañón) ;
Cobo, Ana (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Colomer, Jaime (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Conejo, David (Complejo asistencial) ;
Corrales, Maria José (Hospital General Mancha Centro) ;
Cortés, Rocío (Hospital San Borja Arriaran) ;
Cruz, Gabriel (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Csányi, Gábor (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Santos, María Teresa de (Hospital de Fuenlabrada) ;
Toledo, María de (Hospital Universitario Severo Ochoa) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ;
Domingo, Rosario (Hospital Infantil de La Arrixaca) ;
Duat, Anna (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Duque, Rosario (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Esparza, Ana María (Consorci Hospitalari Provincial de Castelló) ;
Fernández, Rosa (Hospital Universitario de Getafe (Madrid)) ;
Fons, Maria Carme (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Fontalba, Ana (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Galán, Enrique (Hospital Materno-Infantil de Badajoz) ;
Gallano, Pia (Institut d'Investigació Bomèdica Sant Pau) ;
Gamundi, María José (Consorci Sanitari) ;
García, Pedro Luis (Hospital Virgen de la Salud (Toledo)) ;
García, María del Mar (Hospital Cormarcal de Figueres) ;
García-Barcina, María (Hospital de Basurto (Bilbao, Biscaia)) ;
Garcia-Catalan, María Jesús (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
García-Cazorla, Angels (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
García-Miñaur, Sixto (Hospital Universitario La Paz (Madrid)) ;
Garcia-Peñas, Juan Jose (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
García-Silva, María Teresa (Hospital 12 de Octubre (Madrid)) ;
Gassio, Rosa (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Geán, Esther (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gil, Belén (Hospital Universitario de Getafe (Madrid)) ;
Gökben, Sarenur (Ege Ünŭversŭtesŭ Tip Fakültesŭ Pedŭatrŭ AD) ;
Gonzalez, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Gonzalez, Veronica (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gonzalez, Julieta (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
González, Gloria (Balagué Center) ;
Guillén, Encarna (Hospital Infantil de La Arrixaca) ;
Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Guitet, Montserrat (Hospital General de Granollers) ;
Gutierrez, Juan Manuel (Hospital Clínico Universitario de Valladolid) ;
Gutiérrez, Eva (Hospital de Fuenlabrada) ;
Herranz, Jose Luís (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Iglesias, Gemma (Hospital Virgen de La Luz (Cuenca)) ;
Karacic, Iva (Clinical Hospital Center Zagreb) ;
Lahoz, Carlos H. (Hospital Central Asturias) ;
Lao, José Ignacio (Laboratorio Echevarne) ;
Lapunzina, Pablo (Hospital Universitario La Paz (Madrid)) ;
Lautre-Ecenarro, María Jesús (Hospital Clínico San Carlos (Madrid)) ;
Lluch, María Dolores (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
López-Ariztegui, Asunción (Hospital de Cruces (Barakaldo, Biscaia)) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Marín, Rosario (Hospital Universitario Puerta del Mar (Cadis, Andalusia)) ;
Marquez, Charles M. Lourenço (University of São Paulo) ;
Martín, Elena (Hospital 12 de Octubre (Madrid)) ;
Martínez, Beatriz (Hospital Universitario de Getafe (Madrid)) ;
Martínez-Salcedo, Eduardo (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Mas, María José (Hospital Universitari Joan XXIII de Tarragona) ;
Mateo, Gonzalo (Hospital Universitario de Guadalajara) ;
Mendez, Pilar (Hospital Materno-Infantil de Badajoz) ;
Jimenez, Amparo Morant (Centro privado) ;
Moreno, Sira (Hospital Virgen del Camino (Pamplona)) ;
Mulas, Fernando (Instituto Valenciano de Neurociencias) ;
Narbona, Juan (Clínica Universidad de Navarra) ;
Nascimento, Andrés (Hospital Sant Joan de Déu (Manresa)) ;
Nieto, Manuel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Nunes, Tania Fabiola (Hospital Sant Joan de Déu (Manresa)) ;
Núñez, Núria (Hospital Universitari Vall d'Hebron) ;
Obón, María (Hospital Universitari de Girona Doctor Josep Trueta) ;
Onsurbe, Ignacio (Complejo Hospitalario Universitario de Albacete) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Orts, Emilio (Hospital General Mancha Centro) ;
Martinez, Francisco (Hospital Universitari Doctor Peset (València)) ;
Parrilla, Rafael (Complejo Hospitalario de Jaén) ;
Pascual Pascual, Samuel Ignacio (Hospital Universitario La Paz (Madrid)) ;
Patiño, Ana (Complejo Hospitalario de Navarra) ;
Pérez-Poyato, Maria (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Pérez-Dueñas, Belén (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Póo, Pilar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Puche, Eliodoro (Hospital Infantil de La Arrixaca) ;
Ramos, Feliciano (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Roche, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Roldan, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ;
Rosell Andreo, Jordi (Hospital Universitari Son Dureta (Palma de Mallorca, Balears)) ;
Ruiz, Cesar (Hospital Costa del Sol (Marbella)) ;
Ruiz-Falcó, María Luz (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Russi Delfraro, María Eugenia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Samarra, Jordi (Hospital General de Vic) ;
Antonio, Victoria San (Hospital Clínico San Carlos (Madrid)) ;
Sanchez, Ivan (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Sanmartin, Xavier (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Sans, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Santacana, Alfredo (Complejo Hospitalario Universitario Insular) ;
Scholl-Bürgi, Sabine (Medizinische Universität Innsbruck) ;
Serrano, Nuria (Althaia) ;
Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Martin-Tamayo, Pilar (Complejo Hospitalario Universitario de Albacete) ;
Tendero, Adrián (Hospital Universitario La Paz (Madrid)) ;
Torrents, Jaime (Reference Laboratory) ;
Tortosa, Diego (Hospital Infantil de La Arrixaca) ;
Triviño, Emma (Catlab) ;
Troncoso, Ledia (Hospital San Borja Arriaran) ;
Turon-Viñas, E (Institut d'Investigació Biomèdica Sant Pau) ;
Vázquez, Pilar (Hospital General Universitario Gregorio Marañón) ;
Vázquez, Carlos (Complejo Hospitalario Universitario Insular) ;
Velázquez, Ramón (Hospital Universitario La Paz (Madrid)) ;
Ventura, Clara (Hospital Universitari Vall d'Hebron) ;
Verdú, Alfonso (Hospital Virgen de la Salud (Toledo)) ;
Vernet, Anna (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Vila, M. Tomás (Hospital Francesc De Borja) ;
Villar, Cristina (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Universitat Autònoma de Barcelona
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. [...]
2019 - 10.1038/s41598-019-48385-w
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 11983
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21 p, 11.5 MB |
Identification of constrained sequence elements across 239 primate genomes
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Kuderna, Lukas F. K. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Ulirsch, Jacob C. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Rashid, Sabrina (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Ameen, Mohamed (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Sundaram, Laksshman (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Hickey, Glenn (University of California. Santa Cruz Genomics Institute) ;
Cox, Anthony J. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Gao, Hong (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Kumar, Arvind (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Aguet, Francois (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Christmas, Matthew J. (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Clawson, Hiram (University of California. Santa Cruz Genomics Institute) ;
Haeussler, Maximilian (University of California. Santa Cruz Genomics Institu) ;
Janiak, Mareike C. (University of Salford. School of Science, Engineering and Environment) ;
Kuhlwilm, Martin (University of Vienna. Department of Evolutionary Anthropology) ;
Orkin, Joseph D. (Université de Montréal. Département d'Anthropologie) ;
Bataillon, Thomas (Aarhus University. Bioinformatics Research Centre) ;
Shivakumara Manu (Academy of Scientific and Innovative Research (Ghaziabad, Índia)) ;
Valenzuela, Alejandro (Institut de Biologia Evolutiva (Barcelona)) ;
Bergman, Juraj (Aarhus University. Bioinformatics Research Centre) ;
Rouselle, Marjolaine (Aarhus University. Bioinformatics Research Centre) ;
Silva, Felipe Ennes (Mamirauá Institute for Sustainable Development) ;
Agueda Calpena, Lidia (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Blanc, Julie (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Gut, Marta (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
de Vries, Dorien (University of Salford. School of Science, Engineering and Environment) ;
Goodhead, Ian (University of Salford. School of Science, Engineering and Environment) ;
Harris, R. Alan (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Raveendran, Muthuswamy (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Jensen, Axel (Uppsala University. Department of Ecology and Genetics) ;
Chuma, Idriss S. (Tanzania National Parks) ;
Horvath, Julie E. (University of North Carolina at Chapel Hill. Renaissance Computing Institute) ;
Hvilsom, Christina (Copenhagen Zoo) ;
Juan, David (Institut de Biologia Evolutiva (Barcelona)) ;
Frandsen, Peter (Copenhagen Zoo) ;
Schraiber, Joshua G. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
de Melo, Fabiano R. (Universidade Federal de Viçosa) ;
Bertuol, Fabrício (Universidade Federal do Amazonas. Departamento de Genética) ;
Byrne, Hazel (University of Utah. Department of Anthropology) ;
Sampaio, Iracilda (Universidade Federal do Pará (Brasil)) ;
Pires Farias, Izeni (Universidade Federal do Amazonas. Departamento de Genética) ;
Valsecchi, João (Comunidad de Manejo de Fauna Silvestre en la Amazonía y en Latinoamérica-ComFauna) ;
Messias, Malu (Universidade Federal de Rondônia) ;
da Silva, Maria N. F. (Instituto Nacional de Pesquisas da Amazônia) ;
Trivedi, Mihir (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ;
Rossi, Rogerio (Universidade Federal do Mato Grosso. Instituto de Biociências) ;
Hrbek, Tomas (Trinity University. Department of Biology) ;
Andriaholinirina, Nicole (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Rabarivola, Clément J. (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Zaramody, Alphonse (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Jolly, Clifford J. (New York University .Department of Anthropology) ;
Phillips-Conroy, Jane (Washington University School of Medicine in St Louis. Department of Neuroscience) ;
Wilkerson, Gregory (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Abbee, C. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Simmons, Joe H. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Fernandez-Duque, Eduardo (Yale University. Department of Anthropology) ;
Kanthaswamy, Sree (University of California. California National Primate Research Center) ;
Shiferaw, Fekadu (The Carter Center Ethiopia) ;
Wu, Dong-Dong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ;
Zhou, Long (Zhejiang University School of Medicine. Center for Evolutionary and Organismal Biology) ;
Shao, Yong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ;
Zhang, Guojie (Zhejiang University Medical Center) ;
Keyyu, Julius D. (Tanzania Wildlife Research Institute) ;
Knauf, Sascha (Justus Liebig University. Faculty of Veterinary Medicine) ;
Le, Minh D. (Vietnam National University. Department of Environmental Ecology) ;
Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont) ;
Merker, Stefan epartment of Environmental Ecology (State Museum of Natural History Stuttgart. Department of Zoology) ;
Navarro, Arcadi, 1969- (Institut de Biologia Evolutiva (Barcelona)) ;
Nadler, Tilo (Cuc Phuong Commune) ;
Khor, Chiea Chuen (Genome Institute of Singapore) ;
Lee, Jessica (Mandai Nature) ;
Tan, Patrick (Duke-NUS Medical School) ;
Lim, Weng Khong (SingHealth Duke-NUS Genomic Medicine Centre) ;
Kitchener, Andrew C. (School of Geosciences) ;
Zinner, Dietmar (Leibniz ScienceCampus Primate Cognition) ;
Gut, Ivo (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Melin, Amanda D. (University of Calgary. Alberta Children's Hospital Research Institute) ;
Guschanski, Katerina (University of Edinburgh. School of Biological Sciences) ;
Schierup, Mikkel Heide (Aarhus University. Bioinformatics Research Centre) ;
Beck, Robin (University of Salford. School of Science, Engineering and Environment) ;
Karakikes, Ioannis (Stanford University. Department of Cardiothoracic Surgery) ;
Wang, Kevin C. (Veterans Affairs Palo Alto Healthcare System) ;
Umapathy, Govindhaswamy (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ;
Roos, Christian (Leibniz Institute for Primate Research. German Primate Center) ;
Boubli, Jean (University of Salford. School of Science, Engineering and Environment) ;
Siepel, Adam (Simons Center for Quantitative Biology. Cold Spring Harbor Laboratory) ;
Kundaje, Anshul (Stanford University. Department of Genetics) ;
Paten, Benedict (University of California. Santa Cruz Genomics Institute) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Rogers, Jeffrey (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Farh, Kyle Kai-How (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units))
Noncoding DNA is central to our understanding of human gene regulation and complex diseases and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome. [...]
2023 - 10.1038/s41586-023-06798-8
Nature, Published online nov. 2023
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