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1.
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10 p, 1.8 MB |
Epigenome-wide association study of COVID-19 severity with respiratory failure
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Castro de Moura, Manuel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Davalos, Veronica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Planas-Serra, Laura (Institut d'Investigació Biomèdica de Bellvitge) ;
Álvarez-Errico, Damiana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Arribas, Carles (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ruiz, Montserrat (Institut d'Investigació Biomèdica de Bellvitge) ;
Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ;
Troya, Jesús (Hospital Universitario Infanta Leonor) ;
Valencia Ramos, Juan (Hospital Universitario de Burgos) ;
Vélez Santamaria, Valentina (Hospital Universitari de Bellvitge) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Villar Garcia, Judit (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Horcajada, Juan Pablo (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Albu, Sergiu (Institut Guttmann Foundation. Badalona) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Rull, Anna (Hospital Universitari Joan XXIII de Tarragona) ;
Reverté Calvet, Laia (Hospital Universitari Joan XXIII de Tarragona) ;
Dietl, Beatriz (Servei de malalties infeccioses Hospital Universitari MutuaTerrassa. Universitat de Barcelona) ;
Dalmau, David (Universitat de Barcelona. Hospital Mútua de Terrassa) ;
Arranz, María Jesús (Fundació Docència i Recerca Mútua Terrassa) ;
Llucià-Carol, Laia (Stroke Pharmacogenomics and Genetics Group. Sant Pau Institute of Research. Sant Pau Hospital) ;
Planas, Anna Maria (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Pérez-Tur, Jordi (Institut de Biomedicina de València-CSIC. CIBERNED. Unitat Mixta de Neurologia i Genètica) ;
Fernandez-Cadenas, Israel (Stroke Pharmacogenomics and Genetics Group. Sant Pau Institute of Research. Sant Pau Hospital) ;
Villares, Paula (Hospital Universitario HM Sanchinarro (Madrid)) ;
Tenorio, Jair (Center for Biomedical Research on Rare Diseases (CIBERER). ISCIII) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Vidal, Francesc (Hospital Universitari Joan XXIII de Tarragona) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Background: Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for the coronavirus disease 2019 (COVID-19), exhibit a wide spectrum of disease behaviour. [...]
2021 -  10.1016/j.ebiom.2021.103339
EBioMedicine, Vol. 66 (april 2021) , p. 103339
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2.
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15 p, 1.1 MB |
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
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Pignata, Laura (Università Degli Studi Della Campania "Luigi Vanvitelli") ;
Cecere, Francesco (Università Degli Studi Della Campania "Luigi Vanvitelli") ;
Verma, Ankit (Institute of Genetics and Biophysics (IGB)) ;
Hay Mele, Bruno (Università Degli Studi Di Napoli "Federico II") ;
Monticelli, Maria (Università Degli Studi Di Napoli "Federico II") ;
Acurzio, Basilia (Institute of Genetics and Biophysics (IGB)) ;
Giaccari, Carlo (Institute of Genetics and Biophysics (IGB)) ;
Sparago, Angela (Università Degli Studi Della Campania "Luigi Vanvitelli") ;
Hernandez Mora, José Ramon (Institut d'Investigació Biomèdica de Bellvitge) ;
Monteagudo-Sánchez, Ana (Institut d'Investigació Biomèdica de Bellvitge) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Pereda, Arrate (Araba University Hospital-Txagorritxu) ;
Tenorio-Castano, Jair (ITHACA. European Reference Network) ;
Palumbo, Orazio (Fondazione IRCCS "Casa Sollievo Della Sofferenza") ;
Carella, Massimo (Fondazione IRCCS "Casa Sollievo Della Sofferenza") ;
Prontera, Paolo (Medical Genetics Unit. University and Hospital of Perugia) ;
Piscopo, Carmelo ("Antonio Cardarelli" Hospital) ;
Accadia, Maria (Hospital "Cardinale G. Panico") ;
Lapunzina, Pablo (ITHACA. European Reference Network) ;
Cubellis, Maria Vittoria (Università Degli Studi Di Napoli "Federico II") ;
Pérez de Nanclares, Guiomar (Araba University Hospital-Txagorritxu) ;
Monk, David (University of East Anglia) ;
Riccio, Andrea (Institute of Genetics and Biophysics (IGB)) ;
Cerrato, Flavia (Università Degli Studi Della Campania "Luigi Vanvitelli") ;
Universitat Autònoma de Barcelona
Background: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15. 5 and 20q13. [...]
2022 - 10.1186/s13148-022-01292-w
Clinical Epigenetics, Vol. 14 Núm. 1 (december 2022), p. 71
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3.
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18 p, 1.5 MB |
Novel genes and sex differences in COVID-19 severity
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Cruz, Raquel ;
Diz-de Almeida, Silvia ;
López de Heredia, Miguel (Institut d'Investigació Biomèdica Sant Pau) ;
Quintela, Inés ;
Ceballos, Francisco C ;
Pita, Guillermo ;
Lorenzo-Salazar, José M ;
González-Montelongo, Rafaela ;
Gago-Dominguez, Manuela ;
Sevilla Porras, Marta ;
Tenorio Castaño, Jair Antonio ;
Nevado, Julian ;
Aguado, José María ;
Aguilar Franco, Carlos (Hospital Santa Bárbara (Soria)) ;
Aguilera-Albesa, Sergio ;
Almadana, Virginia ;
Almoguera, Berta ;
Alvarez, Nuria ;
Andreu-Bernabeu, Álvaro ;
Arana-Arri, Eunate ;
Arango, Celso ;
Arranz, María Jesús (Fundació Docència i Investigació Mútua Terrassa) ;
Artiga, Maria-Jesus ;
Baptista-Rosas, Raúl C ;
Barreda-Sánchez, María ;
Belhassen-Garcia, Moncef ;
Bezerra, Joao F ;
Bezerra, Marcos A C ;
Boix-Palop, Lucía ;
Brion, María ;
Brugada, Ramon ;
Bustos, Matilde ;
Calderón, Enrique J ;
Carbonell, Cristina ;
Castaño, Luis ;
Castelao, Jose E ;
Conde-Vicente, Rosa ;
Cordero-Lorenzana, M Lourdes ;
Cortes-Sanchez, Jose L ;
Corton, Marta ;
Darnaude, M Teresa ;
De Martino-Rodríguez, Alba ;
del Campo-Pérez, Victor ;
Diaz de Bustamante, Aranzazu ;
Domínguez-Garrido, Elena ;
Luchessi, Andre D ;
Eiros, Rocío ;
Estigarribia Sanabria, Gladys Mercedes ;
Carmen Fariñas, María ;
Fernández-Robelo, Uxía ;
Fernández-Rodríguez, Amanda ;
Fernández-Villa, Tania ;
Gil-Fournier, Belén ;
Gómez-Arrue, Javier ;
González Álvarez, Beatriz ;
Gonzalez Bernaldo de Quirós, Fernan ;
González-Peñas, Javier ;
Gutiérrez-Bautista, Juan F ;
Herrero, María José ;
Herrero-Gonzalez, Antonio ;
Jimenez-Sousa, María A ;
Lattig, María Claudia ;
Liger Borja, Anabel ;
Lopez-Rodriguez, Rosario ;
Mancebo, Esther ;
Martín-López, Caridad ;
Martín, Vicente ;
Martinez-Nieto, Oscar ;
Martinez-Lopez, Iciar ;
Martinez-Resendez, Michel F ;
Martinez-Perez, Angel (Institut d'Investigació Biomèdica Sant Pau) ;
Mazzeu, Juliana F ;
Merayo Macías, Eleuterio ;
Minguez, Pablo ;
Moreno Cuerda, Victor ;
Silbiger, Vivian N ;
Oliveira, Silviene F ;
Ortega-Paino, Eva ;
Parellada, Mara ;
Paz-Artal, Estela ;
Santos, Ney P C ;
Pérez-Matute, Patricia ;
Perez, Patricia ;
Pérez-Tomás, M Elena ;
Perucho, Teresa ;
Pinsach-Abuin, Mel Lina ;
Pompa-Mera, Ericka N ;
Porras-Hurtado, Gloria L ;
Pujol, Aurora 1968- ;
Ramiro León, Soraya ;
Resino, Salvador ;
Fernandes, Marianne R ;
Rodríguez-Ruiz, Emilio ;
Rodriguez-Artalejo, Fernando ;
Rodriguez-Garcia, José A ;
Ruiz Cabello, Francisco ;
Ruiz-Hornillos, Javier ;
Ryan, Pablo ;
Soria Fernández, José Manuel (Institut d'Investigació Biomèdica Sant Pau) ;
Souto, Juan Carlos (Institut d'Investigació Biomèdica Sant Pau) ;
Tamayo, Eduardo ;
Tamayo-Velasco, Alvaro ;
Taracido-Fernandez, Juan Carlos ;
Teper, Alejandro ;
Torres-Tobar, Lilian ;
Urioste, Miguel ;
Valencia-Ramos, Juan ;
Yáñez, Zuleima ;
Zarate, Ruth ;
Nakanishi, Tomoko ;
Pigazzini, Sara ;
Degenhardt, Frauke ;
Butler-Laporte, Guillaume ;
Maya-Miles, Douglas ;
Bujanda, Luis ;
Bouysran, Youssef ;
Palom, Adriana ;
Ellinghaus, David ;
Martínez-Bueno, Manuel ;
Rolker, Selina ;
Amitrano, Sara ;
Roade, Luisa ;
Fava, Francesca ;
Spinner, Christoph D ;
Prati, Daniele ;
Bernardo, D ;
Garcia, Federico ;
Darcis, Gilles ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Holter, Jan Cato ;
Banales, Jesus ;
Frithiof, Robert ;
Duga, Stefano ;
Asselta, Rosanna ;
Pereira, Alexandre C ;
Romero-Gómez, Manuel ;
Nafría-Jiménez, Beatriz ;
Hov, Johannes R. ;
Migeotte, Isabelle ;
Renieri, Alessandra ;
Planas, Anna M ;
Ludwig, Kerstin U ;
Buti, Maria ;
Rahmouni, Souad ;
Alarcón-Riquelme, Marta E ;
Schulte, Eva C ;
Franke, Andre ;
Karlsen, Tom H. ;
Valenti, Luca ;
Zeberg, Hugo ;
Richards, Brent ;
Ganna, Andrea ;
Boada, Mercè ;
De Rojas, Itziar ;
Ruiz, Agustín ;
Sánchez-Juan, Pascual ;
Real, Luis M ;
Guillen-Navarro, Encarna ;
Ayuso, Carmen ;
González-Neira, Anna ;
Riancho, José A ;
Rojas-Martinez, Augusto ;
Flores, Carlos ;
Lapunzina, Pablo ;
Carracedo, Ángel
Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). [...]
2022 - 10.1093/hmg/ddac132
Human Molecular Genetics, Vol. 31 (june 2022) , p. 3789-3806
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4.
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9 p, 583.0 KB |
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review
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Tenorio, Jair (Hospital Universitario La Paz (Madrid)) ;
Morte, Beatriz (The SIDE Consortium: Spanish Intellectual Disability Exome Consortium) ;
Nevado, Julián (Hospital Universitario La Paz (Madrid)) ;
Martinez-Glez, Víctor (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Santos-Simarro, Fernando (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
García-Miñaúr, Sixto (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Palomares-Bralo, María (Hospital Universitario La Paz (Madrid)) ;
Pacio-Míguez, Marta (Hospital Universitario La Paz (Madrid)) ;
Gómez, Beatriz (Spanish Intellectual Disability Exome Consortium) ;
Arias, Pedro (Hospital Universitario La Paz (Madrid)) ;
Alcochea, Alba (Spanish Federation for Rare Diseases) ;
Carrión, Juan (Spanish Federation for Rare Diseases) ;
Arias, Patricia (Spanish Federation for Rare Diseases) ;
Almoguera, Berta (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
López-Grondona, Fermina (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Lorda-Sanchez, Isabel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Galán-Gómez, Enrique (Hospital Materno Infantil de Badajoz) ;
Valenzuela, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Méndez Perez, María Pilar (Hospital Materno Infantil de Badajoz) ;
Cusco, Ivon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Barros, Francisco (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pié, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ramos, Sergio (Hospital Universitario La Paz (Madrid)) ;
Ramos, Feliciano J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Kuechler, Alma (University Hospital Essen (Alemanya)) ;
Tizzano, Eduardo F (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ayuso, Carmen (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Kaiser, Frank J. (University Hospital Essen (Alemanya)) ;
Pérez-Jurado, Luis Alberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Carracedo, Ángel (Universidade de Santiago de Compostela) ;
Lapunzina, Pablo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Universitat Autònoma de Barcelona
Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. [...]
2021 - 10.3390/genes12050738
Genes, Vol. 12 (may 2021)
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5.
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10 p, 757.2 KB |
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
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Baldassarri, Margherita (University of Siena. Department of Medical Biotechnologies) ;
Picchiotti, Nicola (University of Pavia. Department of Mathematics) ;
Fava, Francesca (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Fallerini, Chiara (University of Siena. Department of Medical Biotechnologies) ;
Benetti, Elisa (University of Siena. Department of Medical Biotechnologies) ;
Daga, Sergio (University of Siena. Department of Medical Biotechnologies) ;
Valentino, Floriana (University of Siena. Department of Medical Biotechnologies) ;
Doddato, Gabriella (University of Siena. Department of Medical Biotechnologies) ;
Furini, Simone (University of Siena. Department of Medical Biotechnologies) ;
Giliberti, Annarita (University of Siena. Department of Medical Biotechnologies) ;
Tita, Rossella (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Amitrano, Sara (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Bruttini, Mirella (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Croci, Susanna (University of Siena. Department of Medical Biotechnologies) ;
Meloni, Ilaria (University of Siena. Department of Medical Biotechnologies) ;
Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Iuso, Nicola (University of Siena. Department of Medical Biotechnologies) ;
Gabbi, Chiara ;
Sciarra, Francesca (Sapienza University of Rome. Department of Experimental Medicine) ;
Venneri, Mary Anna (Sapienza University of Rome. Department of Experimental Medicine) ;
Gori, Marco (Université Côte d'Azur) ;
Sanarico, Maurizio ;
Crawley, Francis P. (Good Clinical Practice Alliance-Europe (GCPA) and Strategic Initiative for Developing Capacity in Ethical Review-Europe (SIDCER) (Leuven, Bèlgica)) ;
Pagotto, Uberto (University of Bologna. Department of Medical and Surgical Sciences) ;
Fanelli, Flaminia (University of Bologna. Department of Medical and Surgical Sciences) ;
Mezzullo, Marco (University of Bologna. Department of Medical and Surgical Sciences) ;
Domínguez-Garrido, Elena (Fundación Rioja Salud. Molecular Diagnostic Unit) ;
Planas-Serra, Laura (Spanish Covid HGE) ;
Schlüter, Agatha (Spanish Covid HGE) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lapunzina, Pablo (Hospital Universitario La Paz (Madrid)) ;
Tenorio, Jair (Hospital Universitario La Paz (Madrid)) ;
Pujol, Aurora 1968- (Institució Catalana de Recerca i Estudis Avançats) ;
Castagna, Maria Grazia (University of Siena. Department of Medical, Surgical and Neurological Sciences) ;
Marcelli, Marco (Baylor College of Medicine (Houston, Estats Units d'Amèrica). Department of Medicine) ;
Isidori, Andrea M. (Sapienza University of Rome. Department of Experimental Medicine) ;
Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Frullanti, Elisa (University of Siena. Department of Medical, Surgical and Neurological Sciences) ;
Mari, Francesca (Azienda Ospedaliero-Universitaria Senese (Itàlia)) ;
Universitat Autònoma de Barcelona
While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. [...]
2021 - 10.1016/j.ebiom.2021.103246
EBioMedicine, Vol. 65 (february 2021) , p. 103246
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6.
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14 p, 5.6 MB |
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances
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Monteagudo-Sánchez, A. (Institut d'Investigació Biomèdica de Bellvitge) ;
Hernandez Mora, J. R. (Institut d'Investigació Biomèdica de Bellvitge) ;
Simon, C. (Department of Obstetrics and Gynecology. BIDMC. Harvard University) ;
Burton, A. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ;
Tenorio, Jair (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Lapunzina, Pablo (ITHACA. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability) ;
Clark, S. (Epigenetics Programme. The Babraham Institute) ;
Esteller, M. (Centro de Investigación Biomédica en Red de Cáncer) ;
Kelsey, G. (University of Cambridge. Centre for Trophoblast Research) ;
López-Siguero, J. P. (Hospital Regional Universitario Carlos Haya (Málaga)) ;
De Nanclares, G. P. (Instituto de Investigación Sanitaria Bioaraba (Vitoria, País Basc)) ;
Torres-Padilla, M. E. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ;
Monk, D. (University of East Anglia. Biomedical Research Centre) ;
Universitat Autònoma de Barcelona
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation that is resistant to embryonic reprogramming, resulting in parental origin-specific monoallelic gene expression. [...]
2020 - 10.1093/nar/gkaa837
Nucleic acids research, Vol. 48 Núm. 20 (18 2020) , p. 11394-11407
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