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1.
12 p, 1.3 MB Gene-level association analysis of systemic sclerosis : A comparison of African-Americans and White populations / Gorlova, Olga Y. (Dartmouth College) ; Li, Yafang (Dartmouth College) ; Gorlov, Ivan (Dartmouth College) ; Ying, Jun (University of Texas McGovern Medical School) ; Chen, Wei V. (UT MD Anderson Cancer Center) ; Assassi, Shervin (University of Texas McGovern Medical School) ; Reveille, John D. (University of Texas McGovern Medical School) ; Arnett, Frank C. (University of Texas McGovern Medical School) ; Zhou, Xiaodong (University of Texas McGovern Medical School) ; Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ; Lopez-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ; Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ; Gregersen, Peter K. (Feinstein Institute for Medical Research) ; Lee, Annette T. (Robert S. Feinstein Institute for Medical Research) ; Steen, Virginia D. (Georgetown University Medical Center) ; Fessler, Barri J. (University of Alabama-Birmingham) ; Khanna, Dinesh (University of Michigan) ; Schiopu, Elena (University of Michigan) ; Silver, Richard M. (Medical University of South Carolina) ; Molitor, Jerry A. (University of Minnesota) ; Furst, Daniel E. (University of Florence) ; Kafaja, Suzanne (University of California-Los Angeles) ; Simms, Robert W. (Boston University) ; Lafyatis, Robert A. (University of Pittsburgh) ; Carreira, Patricia E (Hospital Universitario de Madrid) ; Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ; Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ; Beltran, Emma (Hospital Universitari i Politècnic La Fe (València)) ; Ortego, Norberto (University Hospital San Cecilio) ; Amos, Christopher I. (Dartmouth College) ; Martin, Javier (Institute of Parasitology and Biomedicine López-Neyra. IPBLN-CSIC) ; Mayes, Maureen D. (University of Texas McGovern Medical School) ; Universitat Autònoma de Barcelona
Gene-level analysis of ImmunoChip or genome-wide association studies (GWAS) data has not been previously reported for systemic sclerosis (SSc, scleroderma). The objective of this study was to analyze genetic susceptibility loci in SSc at the gene level and to determine if the detected associations were shared in African-American and White populations, using data from ImmunoChip and GWAS genotyping studies. [...]
2018 - 10.1371/journal.pone.0189498
PloS one, Vol. 13 Núm. 1 (january 2018) , p. e0189498  
2.
10 p, 1.2 MB Association of candidate gene polymorphisms with chronic kidney disease : Results of a case-control analysis in the NEFRONA cohort / Valls, Joan (Instituto de Salud Carlos III) ; Cambray, Serafí (Instituto de Salud Carlos III) ; Pérez-Guallar, Carles (Instituto de Salud Carlos III) ; Bozic, Milica (Instituto de Salud Carlos III) ; Bermúdez-López, Marcelino (Instituto de Salud Carlos III) ; Fernández, Elvira (Instituto de Salud Carlos III) ; Betriu, Àngels (Instituto de Salud Carlos III) ; Rodríguez, Isabel (Instituto de Salud Carlos III) ; Valdivielso, José M. (Instituto de Salud Carlos III) ; Aladrén Regidor, Mª José (Hospital Comarcal Ernest Lluch) ; Almirall Daly, Jaume (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ponz, Esther (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Arteaga Coloma, Jesús (Complejo Hospitalario de Navarra) ; Bajo Rubio, Mª Auxiliadora (Raquel Hospital la Paz) ; Díaz, Raquel (Raquel Hospital la Paz) ; Belart Rodríguez, Montserrat (Sistemes Renals) ; Gascón, Antonio (Hospital Obispo Polanco) ; Bover, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Bronsoms Artero, Josep (Clínica Girona) ; Cabezuelo Romero, Juan B. (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Muray Cases, Salomé (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Calviño Varela, Jesús (Hospital Universitario Lucus Augusti (Lugo)) ; Caro Acevedo, Pilar (Clínica Ruber) ; Carreras Bassa, Jordi (Diaverum Baix Llobregat) ; Cases Amenós, Aleix (Hospital Clínic i Provincial de Barcelona) ; Massó Jiménez, Elisabet (Hospital Clínic i Provincial de Barcelona) ; Moreno López, Rosario (Hospital de la Defensa) ; Cigarrán Guldris, Secundino (Hospital da Costa) ; López Prieto, Saray (Hospital da Costa) ; Comas Mongay, Lourdes (Hospital General de Vic) ; Comerma, Isabel (Hospital General de Manresa) ; Compte Jové, MªTeresa (Hospital de la Santa Creu de Jesús) ; Cuberes Izquierdo, Marta (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; De Álvaro, Fernando (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Hevia Ojanguren, Covadonga (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; De Arriba De La Fuente, Gabriel (Hospital Universitario de Guadalajara) ; Del Pino Y Pino, Mª Dolores (Complejo Hospitalario Torrecardenas de Almeria) ; Diaz-Tejeiro Izquierdo, Rafael (Francisco Hospital Virgen de la Salud) ; Hormigos, Ahijado (Francisco Hospital Virgen de la Salud) ; Dotori, Marta (USP Marbella) ; Duarte, Verónica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Estupiñan Torres, Sara (Hospital Universitario de Canarias (La Laguna)) ; Fernández Reyes, MªJosé (Hospital de Segovia) ; Fernández Rodríguez, Mª Loreto (Hospital Príncipe de Asturias) ; Fernández, Guilermina (Clínica Santa Isabel) ; Galán Serrano, Antonio (Hospital General Universitari de València) ; García Cantón, Cesar (Hospital Universitario Insular de Gran Canaria) ; García Herrera, Antonio L. (Hospital Universitario Puerto Real (Cadis)) ; García Mena, Mercedes (Hospital San Juan de Dios) ; Gil Sacaluga, Luis (Hospital Virgen Del Rocío) ; Aguilar, Maria (Hospital Virgen Del Rocío) ; Górriz, José Luis (Hospital Universitari Doctor Peset (València)) ; Huarte Loza, Emma (Hospital San Pedro de Alcántara) ; Lerma, José Luis (Hospital Universitario de Salamanca) ; Liebana Cañada, Antonio (Hospital de Jaén) ; Marín Álvarez, Jesús Pedro. (Hospital San Pedro de Alcántara) ; Martín Alemany, Nadia (Hospital Universitari de Girona Doctor Josep Trueta) ; Martín García, Jesús (Hospital Nuestra Señora de Sonsoles (Àvila)) ; Martínez Castelao, Alberto (Hospital Universitari de Bellvitge) ; Martínez Villaescusa, María (Complejo Hospitalario Universitario de Albacete) ; Martínez, Isabel (Hospital Galdakao) ; Moina Eguren, Iñigo (Hospital Basurto) ; Moreno Los Huertos, Silvia (Hospital Santa Bárbara) ; Mouzo Mirco, Ricardo (Hospital El Bierzo Ponferrada) ; Munar Vila, Antonia (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Muñoz Díaz, Ana Beatriz (Hospital Vithas Nisa Virgen Del Consuelo) ; Navarro González, Juan F. (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Nieto, Javier (Hospital General Universitario de Ciudad Real) ; Carreño, Agustín (Hospital General Universitario de Ciudad Real) ; Novoa Fernández, Enrique (Complexo Hospitalario de Ourense) ; Ortiz, Alberto (Fundacion Jimenez Diaz) ; Fernandez, Beatriz (Fundacion Jimenez Diaz) ; Paraíso, Vicente (Hospital Universitario del Henares (Madrid)) ; Pérez Fontán, Miguel (Complejo Hospitalario Universitario de A Coruña) ; Peris Domingo, Ana (Hospital Francesc de Borja) ; Piñera Haces, Celestino (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Prados Garrido, Mª Dolores (Hospital Universitario San Cecilio (Granada)) ; Prieto Velasco, Mario (Hospital Universitario de León) ; Puig Marí, Carmina (Hospital D'Igualada) ; Rivera Gorrín, Maite (Hospital Universitario Ramón y Cajal (Madrid)) ; Rubio, Esther (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Ruiz, Pilar (Hospital de Sant Joan Despí Moisès Broggi) ; Salgueira Lazo, Mercedes (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Martínez Puerto, Ana Isabel (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Sánchez Tomero, José Antonio (Hospital Universitario de la Princesa (Madrid)) ; Sánchez, José Emilio (Hospital Universitario Central de Asturias) ; Sans Lorman, Ramon (Hospital de Figueres) ; Saracho, Ramon (Hospital de Santiago) ; Sarrias, Maria (Hospital Universitari Vall d'Hebron) ; Seron, Daniel (Hospital Universitari Vall d'Hebron) ; Soler, María José (Hospital del Mar (Barcelona, Catalunya)) ; Barrios, Clara (Hospital del Mar (Barcelona, Catalunya)) ; Sousa, Fernando (Hospital Rio Carrión) ; Toran, Daniel (Hospital General de Jerez) ; Tornero Molina, Fernando (Hospital Universitario Del Sureste) ; Usón Carrasco, José Javier (Hospital Virgen de La Luz (Cuenca)) ; Valera Cortes, Iidefonso (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Vilaprinyo del Perugia, Mª Merce (Institut Catala D'Urologia i Nefrologia) ; Virto Ruiz, Rafael C. (Hospital San Jorge) ; Carratalá, Vicente Pallarés (Clinica MEDEFIS) ; Altozano, Carlos Santos (CS Azuqueca de Henares) ; Ródenas, Miguel Artigao (CS Zona III) ; Gil, Inés Gil (Área Básica Sanitaria de Arán) ; Gil, Francisco Adan (CS Alfaro) ; Criado, Emilio García (Centro de Salud Del Carpio) ; Belinchón, Rafael Durá (CS Godella) ; Ma Fernández Toro, Jose (CS Zona Centro) ; Antonio Divisón Garrote, Juan (Consultorio de Fuentealbilla) ; Universitat Autònoma de Barcelona
Chronic kidney disease (CKD) is a major risk factor for end-stage renal disease, cardiovascular disease and premature death. Despite classical clinical risk factors for CKD and some genetic risk factors have been identified, the residual risk observed in prediction models is still high. [...]
2019 - 10.3389/fgene.2019.00118
Frontiers in genetics, Vol. 10 Núm. FEB (2019) , p. 118  
3.
16 p, 1.1 MB Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference / Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ; Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ; Halbritter, Jan (Charité - Universitätsmedizin Berlin) ; Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ; Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ; Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ; Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ; Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ; Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ; Bockenhauer, Detlef (Department of Renal Medicine. University College London) ; Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ; Florez, Jose C. (Department of Medicine. Harvard Medical School) ; Fowler, Kevin J. (The Voice of the Patient. Inc.) ; Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ; Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ; Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ; Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ; Goldstein, David B. (Department of Genetics and Development. Columbia University) ; Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ; Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ; Gross, Oliver (University Medical Center Göttingen) ; Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ; Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ; Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ; Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ; Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ; Lanktree, Matthew B. (Department of Medicine. McMaster University) ; Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ; Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ; Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ; Ojo, Akinlolu (University of Kansas School of Medicine) ; Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ; Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ; Pei, York (Division of Nephrology. University Health Network) ; Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ; Rhee, Eugene P. (Massachusetts General Hospital) ; Sanna-Cherchi, Simone (Columbia University) ; Savige, Judy (The University of Melbourne) ; Sayer, John (NIHR Newcastle Biomedical Research Centre) ; Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ; Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ; Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ; Somlo, Stefan (Yale University. Department of Genetics) ; Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ; Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ; Weinstock, André (Alport Syndrome Foundation) ; Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ; Wuttke, Matthias (University of Freiburg) ; Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ; King, Jennifer M. (August Editorial) ; Cheung, Michael (KDIGO) ; Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ; Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ; Gharavi, Ali G. (Columbia University Irving Medical Center) ; Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141  
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17 p, 1.5 MB Multi-ancestry genome-wide association study of asthma exacerbations / Herrera-Luis, Esther (Universidad de La Laguna. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Ortega, Victor E. (División de Medicina Respiratoria. Departamento de Medicina Interna. Mayo Clinic) ; Ampleford, Elizabeth J. (Department of Internal Medicine. Center for Precision Medicine. Wake Forest School of Medicine) ; Sio, Yang Yie (Department of Biological Sciences. National University of Singapore) ; Granell, Raquel (MRC Integrative Epidemiology Unit (IEU). Population Health Sciences. Bristol Medical School. University of Bristol) ; de Roos, Emmely (Department of Respiratory Medicine. Ghent University Hospital) ; Terzikhan, Natalie (Department of Respiratory Medicine. Ghent University Hospital) ; Vergara, Ernesto Elorduy (Institute of Computation Biology. Helmholtz Zentrum München. German Research Center for Environmental Health) ; Hernandez-Pacheco, Natalia (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Perez-Garcia, Javier (Universidad de La Laguna. Genomics and Health Group. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Martin-Gonzalez, Elena (Universidad de La Laguna. Genomics and Health Group. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Lorenzo-Diaz, Fabian (Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias. Universidad de La Laguna) ; Hashimoto, Simone (Department of Respiratory Medicine. Amsterdam University Medical Center. University of Amsterdam) ; Brinkman, Paul (Department of Respiratory Medicine. Amsterdam University Medical Center. University of Amsterdam) ; Jorgensen, Andrea L. (Department of Health Data Science. Institute of Population Health. University of Liverpool) ; Yan, Qi (Department of Obstetrics and Gynecology. Columbia University Irving Medical Center) ; Forno, Erick (Division of Pediatric Pulmonary Medicine. UPMC Children's Hospital of Pittsburgh. University of Pittsburgh) ; Vijverberg, Susanne J. (Department of Paediatric Respiratory Medicine and Allergy. Emma's Children Hospital. Amsterdam UMC. University of Amsterdam) ; Lethem, Ryan (MRC Integrative Epidemiology Unit (IEU). Population Health Sciences. Bristol Medical School. University of Bristol) ; Espuela-Ortiz, Antonio (Universidad de La Laguna. Genomics and Health Group. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Gorenjak, Mario (Center for Human Molecular Genetics and Pharmacogenomics. Faculty of Medicine. University of Maribor) ; Eng, Celeste (Department of Medicine. University of California San Francisco) ; González-Pérez, Ruperto (Unidad de Asma Grave. Servicio de Alergología. Hospital Universitario de Canarias.) ; Hernández-Pérez, José M. (Hospital General de La Palma. Servicio de Neumología) ; Poza-Guedes, Paloma (Hospital Universitario de Canarias. Unidad de Asma Grave. Servicio de Alergología) ; Sardón, Olaia (Universidad del País Vasco. Departamento de Pediatría) ; Corcuera, Paula (Hospital Universitario Donostia. Division of Pediatric Respiratory Medicine) ; Hawkins, Greg A. (Department of Biochemistry. Wake Forest School of Medicine) ; Marsico, Annalisa (Computational Health Center. Helmholtz Zentrum München. German Research Center for Environmental Health) ; Bahmer, Thomas (Airway Research Center North (ARCN). Members of the Germany Center for Lung Research (DZL)) ; Rabe, Klaus F. (Airway Research Center North (ARCN). Members of the Germany Center for Lung Research (DZL)) ; Hansen, Gesine (Department of Pediatric Pneumology. Allergology and Neonatology. Hannover Medical School) ; Kopp, Matthias V. (Department of Paediatric Respiratory Medicine. Inselspital. University Children's Hospital of Bern. University of Bern) ; Rios, Raimon (Programa de Pós Graduação em Imunologia (PPGIm). Instituto de Ciências da Saúde. Universidade Federal da Bahia (UFBA)) ; Cruz, Maria Jesús (Hospital Universitari Vall d'Hebron) ; González-Barcala, Francisco Javier (Complejo Hospitalario Universitario de Santiago de Compostela. Servicio de Neumología) ; Olaguibel, José María (Complejo Hospitalario de Navarra) ; Plaza, Vicente (Institut d'Investigació Biomèdica Sant Pau) ; Quirce Gancedo, Santiago (Hospital Universitario La Paz. Instituto de Investigación Hospital Universitario La Paz. Servicio de Alergología) ; Canino, Glorisa (Behavioral Sciences Research Institute. University of Puerto Rico) ; Cloutier, Michelle (Department of Pediatrics. University of Connecticut) ; Del Pozo, Victoria (Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz. Servicio de Inmunología) ; Rodriguez-Santana, Jose R. (Centro de Neumología Pediátrica) ; Korta-Murua, Javier (Universidad del País Vasco. Departamento de Pediatría) ; Villar, Jesús (Hospital Universitario de Gran Canaria Doctor Negrín. Multidisciplinary Organ Dysfunction Evaluation Research Network. Research Unit) ; Potočnik, Uros (Laboratory for Biochemistry. Molecular Biology and Genomics. Faculty for Chemistry and Chemical Engineering. University of Maribor) ; Figueiredo, Camila (Instituto de Ciências da Saúde. Universidade Federal da Bahia) ; Kabesch, Michael (Department of Paediatric Pneumology and Allergy. University Children's Hospital Regensburg (KUNO)) ; Mukhopadhyay, Somnath (Population Pharmacogenetics Group. Biomedical Research Institute. Ninewells Hospital and Medical School. University of Dundee) ; Pirmohamed, Munir (Department of Pharmacology and Therapeutics. Institute of Systems. Molecular and Integrative Biology. University of Liverpool) ; Hawcutt, Daniel (NIHR Alder Hey Clinical Research Facility. Alder Hey Children's Hospital) ; Melén, Erik (Sachs' Children's Hospital. South General Hospital) ; Palmer, Colin (Population Pharmacogenetics Group. Biomedical Research Institute. Ninewells Hospital and Medical School. University of Dundee) ; Turner, Steve (Child Health. University of Aberdeen) ; Maitland-van der Zee, Anke H. (Department of Paediatric Respiratory Medicine and Allergy. Emma's Children Hospital. Amsterdam UMC. University of Amsterdam) ; von Mutius, Erika (Comprehensive Pneumology Center Munich (CPC-M). Member of the German Center for Lung Research) ; Celedón, Juan C. (Division of Pediatric Pulmonary Medicine. UPMC Children's Hospital of Pittsburgh. University of Pittsburgh) ; Brusselle, Guy (Department of Respiratory Medicine. Erasmus University Medical Center) ; Chew, Fook Tim (Department of Biological Sciences. National University of Singapore) ; Bleecker, Eugene (Division of Genetics. Genomics. and Precision Medicine. Department of Internal Medicine. University of Arizona College of Medicine) ; Meyers, Deborah (Division of Genetics. Genomics. and Precision Medicine. Department of Internal Medicine. University of Arizona College of Medicine) ; Burchard, Esteban G. (Department of Bioengineering and Therapeutic Sciences. University of California San Francisco) ; Pino-Yanes, Maria (Universidad de la Laguna. Instituto de Tecnologías Biomédicas)
Background: Asthma exacerbations are a serious public health concern due to high healthcare resource utilization, work/school productivity loss, impact on quality of life, and risk of mortality. The genetic basis of asthma exacerbations has been studied in several populations, but no prior study has performed a multi-ancestry meta-analysis of genome-wide association studies (meta-GWAS) for this trait. [...]
2022 - 10.1111/pai.13802
Pediatric Allergy and Immunology, Vol. 33 Núm. 6 (june 2022) , p. e13802  
5.
11 p, 1.6 MB Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia / Guardiola-Ripoll, Maria (Centro de Investigación Biomédica en Red de Salud Mental) ; Sotero-Moreno, Alejandro (FIDMAG Germanes Hospitalàries Research Foundation) ; Almodóvar-Payá, Carmen (Centro de Investigación Biomédica en Red de Salud Mental) ; Hostalet, Noemí (FIDMAG Germanes Hospitalàries Research Foundation) ; Guerrero-Pedraza, Amalia (Benito Menni, Complejo Asistencial en Salud Mental) ; Ramiro, Núria (Hospital San Rafael (Barcelona, Catalunya)) ; Ortiz-Gil, Jordi (Hospital General de Granollers. Unitat de Psicologia) ; Arias, Barbara (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ; Madre Rull, Mercè (Institut d'Investigació Biomèdica Sant Pau) ; Soler-Vidal, Joan (Benito Menni, Complejo Asistencial en Salud Mental) ; Salvador, Raymond (Centro de Investigación Biomédica en Red de Salud Mental) ; McKenna, Peter J. (Centro de Investigación Biomédica en Red de Salud Mental) ; Pomarol-Clotet, Edith (Centro de Investigación Biomédica en Red de Salud Mental) ; Fatjó-Vilas, Mar (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals)
The DISC1 gene is one of the most relevant susceptibility genes for psychosis. However, the complex genetic landscape of this locus, which includes protective and risk variants in interaction, may have hindered consistent conclusions on how DISC1 contributes to schizophrenia (SZ) liability. [...]
2022 - 10.1038/s41598-022-10660-8
Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 7351  
6.
14 p, 2.7 MB Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome / Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ; Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ; Guzmán-Jimenez, Andrea (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ; Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe) ; Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe) ; Luján, Saturnino (Instituto de Investigación Sanitaria La Fe) ; Romeu, Gema (Instituto de Investigación Sanitaria La Fe) ; Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ; Castilla, José Antonio (CEIFER-GAMETIA Biobank) ; Gonzalvo, M. Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Vicente, F. Javier (UGC de Urología. HU Virgen de las Nieves) ; Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ; González-Muñoz, Sara (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ; Rodríguez-Martín, Inmaculada (Instituto de Parasitología y Biomedicina "López-Neyra") ; Burgos, Miguel (Universidad de Granada. Departamento de Genética) ; Jiménez, Rafael (Universidad de Granada. Departamento de Genética) ; Pinto, Maria Graça (Centro Hospitalar Universitário de Lisboa Central) ; Pereira, Isabel (Centro Hospitalar Universitário de Lisboa Norte) ; Nunes, Joaquim (Departamento de Obstetrícia. Ginecologia e Medicina da Reprodução. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte) ; Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ; López-Rodrigo, Olga (Laboratory of Seminology and Embryology. Andrology Service-Fundació Puigvert) ; Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ; Marques, Patricia Isabel (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ; Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ; Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ; Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Gonçalves, João (ToxOmics-Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ; Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ; Lopes, AlexandraM. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ; Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular)
We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). [...]
2022 - 10.3390/jpm12060932
Journal of Personalized Medicine, Vol. 12 Núm. 6 (june 2022) , p. 932  
7.
17 p, 1.3 MB Genome-wide association study of circulating interleukin 6 levels identifies novel loci / Ahluwalia, Tarunveer Singh (University of Copenhagen) ; Prins, Bram Peter (University of Groningen) ; Abdollahi, Mohammadreza (University of Groningen) ; Armstrong, Nicola (Murdoch University) ; Aslibekyan, Stella (University of Alabama at Birmingham School of Public Health) ; Bain, Lisa J (Qimr Berghofer Medical Research Institute) ; Jefferis, Barbara (University College London) ; Baumert, Jens (Helmholtz Zentrum München-German Research Center for Environmental Health) ; Beekman, Marian (Leiden University Medical Center) ; Ben-Shlomo, Yoav (University of Bristol) ; Bis, Joshua C (University of Washington) ; Mitchell, Braxton D. (University of Maryland School of Medicine) ; de Geus, Eco J. C (Amsterdam UMC. University Medical Center) ; Delgado, Graciela E. (University of Heidelberg) ; Marek, Diana (Sib Swiss Institute of Bioinformatics) ; Eriksson, Joel (University of Gothenburg) ; Kajantie, Eero (Helsinki University Central Hospital and University of Helsinki) ; Kanoni, Stavroula (Queen Mary University of London) ; Kemp, John P. (University of Bristol) ; Lu, Chen (Boston University School of Public Health) ; Marioni, Riccardo E. (University of Edinburgh) ; McLachlan, Stela (University of Edinburgh) ; Milaneschi, Yuri (Amsterdam Umc. Vrije Universiteit) ; Nolte, Ilja M. (University of Groningen) ; Petrelis, Alexandros M. (Université de Lorraine) ; Porcu, Eleonora (Consiglio Nazionale Delle Ricerche) ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Naderi, Elnaz (University of Groningen) ; Seppälä, Ilkka (Tampere University) ; Shah, Tina (University College London) ; Singhal, Gaurav (University of Adelaide) ; Standl, Marie (Helmholtz Zentrum München-German Research Center for Environmental Health) ; Teumer, Alexander (University Medicine Greifswald) ; Thalamuthu, Anbupalam (University of New South Wales) ; Thiering, Elisabeth (Ludwig-Maximilians-University of Munich. Dr. von Hauner Children's Hospital) ; Trompet, Stella (Leiden University Medical Center) ; Ballantyne, Christie M. (Baylor College of Medicine) ; Benjamin, Emelia J. (Boston University School of Medicine) ; Casas, Juan P. (Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Va Boston Healthcare System) ; Toben, Catherine (University of Adelaide) ; Dedoussis, George (Harokopio University) ; Deelen, Joris (Max Planck Institute for Biology of Ageing) ; Durda, Peter (Larner College of Medicine. University of Vermont) ; Engmann, Jorgen (University College London) ; Feitosa, Mary (Washington University School of Medicine) ; Grallert, Harald (German Center for Diabetes Research (DZD)) ; Hammarstedt, Ann (Sahlgrenska Academy at the University of Gothenburg) ; Harris, Sarah E (University of Edinburgh) ; Homuth, Georg (University Medicine Greifswald) ; Hottenga, Jouke Jan (Amsterdam UMC. University Medical Center) ; Jalkanen, Sirpa (University of Turku) ; Jamshidi, Yalda (St George's University of London) ; Jawahar, Magdalene C. (University of Adelaide) ; Jess, Tine (Statens Serum Institute) ; Kivimaki, Mika (University College London) ; Kleber, Marcus E. (University of Heidelberg) ; Lahti, Jari (University of Helsinki) ; Liu, Yongmei (Wake Forest School of Medicine) ; Marques-Vidal, Pedro (University of Lausanne) ; Mellström, Dan (Sahlgrenska Academy at the University of Gothenburg. Centre for Bone and Arthritis Research) ; Mooijaart, Simon P. (Leiden University Medical Center) ; Müller-Nurasyid, Martina (Johhanes Gutenberg University) ; Penninx, Brenda WJH (Amsterdam Umc. Vrije Universiteit) ; Revez, Joana A. (Qimr Berghofer Medical Research Institute) ; Rossing, Peter (University of Copenhagen) ; Raïkkönen, Katri (University of Helsinki) ; Sattar, Naveed (Bhf Glasgow Cardiovascular Research Centre) ; Scharnagl, Hubert (Medical University of Graz) ; Sennblad, Bengt (Uppsala University) ; Silveira, Angela (Karolinska Institutet (Estocolm, Suècia)) ; Pourcain, Beate St (Radboud University) ; Timpson, Nicholas J. (University of Bristol) ; Trollor, Julian (University of New South Wales) ; Van Dongen, Jenny (Amsterdam UMC. University Medical Center) ; Van Heemst, Diana (Baylor College of Medicine) ; Visvikis-Siest, Sophie (Université de Lorraine. Inserm. IGE-PCV) ; Vollenweider, Peter (University of Lausanne) ; Völker, Uwe (University of Turku) ; Waldenberger, Melanie (Helmholtz Zentrum München-German Research Center for Environmental Health) ; Willemsen, Gonneke (Amsterdam UMC. University Medical Center) ; Zabaneh, Delilah (University College London Genetics Institute) ; Morris, Richard W. (Bristol Medical School. University of Bristol) ; Arnett, Donna K. (University of Kentucky) ; Baune, Bernhard T. (University of Melbourne) ; Boomsma, Dorret I. (Amsterdam UMC. University Medical Center) ; Chang, Yen-Pei C. (University of Maryland School of Medicine) ; Deary, Ian J. (University of Edinburgh) ; Deloukas, Panos (Queen Mary University of London) ; Eriksson, Johan G. (University of Helsinki) ; Evans, David M. (University of Bristol) ; Ferreira, Manuel A. (Qimr Berghofer Medical Research Institute) ; Gaunt, Tom (University of Bristol) ; Gudnason, Vilmundur (University of Iceland) ; Hamsten, Anders (Karolinska Institutet (Estocolm, Suècia)) ; Heinrich, Joachim (University of Melbourne) ; Hingorani, Aroon (University College London) ; Humphries, Steve E. (University College London) ; Jukema, J. Wouter (Durrer Center for Cardiogenetic Research) ; Koenig, Wolfgang (University of Ulm) ; Kumari, Meena (University of Essex) ; Kutalik, Zoltan (University of Lausanne) ; Lawlor, Deborah A. (University of Bristol) ; Lehtimäki, Terho (Tampere University) ; März, Winfried (Synlab Academy. Synalb Holding Deutschland GmbH) ; Mather, Karen A (Neuroscience Research Australia) ; Naitza, Silvia. (Consiglio Nazionale Delle Ricerche) ; Nauck, Matthias (Dzhk (German Center for Cardiovascular Research). Partner Site Greifswald) ; Ohlsson, Claes (University of Gothenburg) ; Price, Jackie F. (University of Edinburgh) ; Raitakari, Olli (Turku University Hospital (Finlàndia)) ; Rice, Ken (University of Washington) ; Sachdev, Perminder S. (Prince of Wales Hospital (Australia)) ; Slagboom, Pieternella Eline (Max Planck Institute for Biology of Ageing) ; Sørensen, Thorkild I.A. (University of Copenhagen. Department of Public Health. Section on Epidemiology) ; Spector, Tim (King's College London. Department of Twin Research and Genetic Epidemiology) ; Stacey, David (University of Cambridge) ; Stathopoulou, Maria G. (Université de Lorraine. Inserm. IGE-PCV) ; Tanaka, Toshiko (National Institute on Aging (Estats Units d'Amèrica)) ; Wannamethee, Sasiwarang Goya (University College London) ; Whincup, Peter (University of London) ; Rotter, Jerome I. (The Lundquist Institute at Harbor-UCLA Medical Center) ; Dehghan, Abbas (Erasmus Mc) ; Boerwinkle, Eric (Baylor College of Medicine) ; Psaty, Bruce M. (University of Washington) ; Snieder, Harold (University Medical Center Groningen) ; Alizadeh, Behrooz Ziad (University Medical Center Groningen)
Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. [...]
2021 - 10.1093/hmg/ddab023
Human Molecular Genetics, Vol. 30 Núm. 5 (january 2021) , p. 393-409  
8.
13 p, 2.4 MB Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage / Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Noyce, Alastair J. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ; Kia, Demis A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Tan, Manuela (UCL Queen Square Institute of Neurology (Regne Unit)) ; Morris, Huw R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Plun-Favreau, Helen (UCL Queen Square Institute of Neurology (Regne Unit)) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ; Bras, Jose (UCL Queen Square Institute of Neurology (Regne Unit)) ; Quinn, John (Institute of Translational Medicine. University of Liverpool) ; Mok, Kin Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ; Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ; Wood, Nicholas W.. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Lewis, Patrick (University of Reading) ; Schreglmann, Sebastian (UCL Queen Square Institute of Neurology (Regne Unit)) ; Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ; Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ; R'Bibo, Lea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manzoni, Claudia (University of Reading) ; Rizig, Mie (UCL Queen Square Institute of Neurology (Regne Unit)) ; Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Foltynie, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Williams, Nigel (Cardiff University School of Medicine) ; Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ; Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ; Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ; Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ; Martinez Rande, Maria (INSERM UMR 1220 and Paul Sabatier University) ; Schulte, Claudia (German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (German Center for Neurodegenerative Diseases) ; Heutink, Peter (German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases) ; Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ; Gasser, Thomas (German Center for Neurodegenerative Diseases) ; Nicolas, Aude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ; Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ; Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ; Gibbs, J.Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ; Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ; Nalls, Mike A. (Data Tecnica International) ; Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ; Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ; Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ; Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ; Scholz, Sonja W. (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ; Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ; Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohn, Lynne (McGill University) ; van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ; Marinus, Johan (Department of Neurology. Leiden University Medical Center) ; Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ; Aguilar Barberà, Miquel (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Alvarez, Victoria (Hospital Universitario Central de Asturias) ; Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ; Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ; Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ; Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ; Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Boungiorno, M. T (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ; Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ; Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ; Carrión-Claro, M (Instituto de Biomedicina de Sevilla) ; Cerdan, Debora (Hospital General de Segovia) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ; Diez-Fairen, Monica (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Duarte, Jacinto (Hospital General de Segovia) ; Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ; Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ; Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ; Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ; Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ; Garcia, Ciara (Hospital Universitario Central de Asturias) ; García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ; Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ; Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ; Jesús, Silvia (Instituto de Biomedicina de Sevilla) ; Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ; Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ; López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Macias, Daniel (Instituto de Biomedicina de Sevilla) ; Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe (València)) ; Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ; Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ; Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ; Menéndez González, Manuel (Hospital Universitario Central de Asturias) ; Mata, Marina (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ; Mir, Pablo (Instituto de Biomedicina de Sevilla) ; Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ; Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ; Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ; Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ; Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ; Tabernero, Cesar (Hospital General de Segovia) ; Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ; Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ; Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ; Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ; Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ; Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ; Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ; Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ; Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ; Gagliano Taliun, Sarah A. (Montréal Heart Institute) ; Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ; Ryten, Mina (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ; Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 - 10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076  
9.
6 p, 1.5 MB Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia : a CRuCIAL study / García Martín, Paloma (Hospital Campus de la Salud (Granada)) ; Moñiz Díez, Ana (Instituto de Investigación Sanitaria de Granada) ; Sánchez Maldonado, José Manuel (Instituto de Investigación Sanitaria de Granada) ; Cabrera Serrano, Antonio José (Instituto de Investigación Sanitaria de Granada) ; ter Horst, Rob (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences) ; Benavente, Yolanda (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Landi, Stefano (Department of Biology. University of Pisa) ; Macauda, Angelica (German Cancer Research Center) ; Clay-Gilmour, Alyssa (University of South Carolina) ; Hernández-Mohedo, Francisca (Instituto de Investigación Sanitaria de Granada) ; Niazi, Yasmeen (Hopp Children's Cancer Center) ; González-Sierra, Pedro Antonio (Instituto de Investigación Sanitaria de Granada) ; Espinet, Blanca (Institut Hospital del Mar d'Investigacions Mèdiques) ; Rodriguez-Sevilla, Juan Jose (Hospital del Mar (Barcelona, Catalunya)) ; Maffei, Rossana (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia) ; Blanco, Gonzalo (Institut Hospital del Mar d'Investigacions Mèdiques) ; Giaccherini, Matteo (Department of Biology. University of Pisa) ; Puiggros, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ; Cerhan, James (Mayo Clinic) ; Marasca, Roberto (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia) ; Cañadas-Garre, Marisa (Instituto de Investigación Sanitaria de Granada) ; Lopez Nevot, Miguel Angel (Hospital Universitario Virgen de las Nieves (Granada)) ; Chen-Liang, Tzu (Hospital General Universitario Morales Meseguer (Múrcia)) ; Thomsen, Hauke (ProtaGene CGT GmbH (Alemanya)) ; Gámez, Irene (Hospital General Universitario Morales Meseguer (Múrcia)) ; Morros, Rosa (Institut d'Investigació Biomèdica de Bellvitge) ; Marcos-Gragera, Rafael (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; García-Álvarez, María (Hospital Universitario de Salamanca) ; Llorca, Javier (Universidad de Cantabria) ; Jerez, Andrés (Hospital General Universitario Morales Meseguer (Múrcia)) ; Berndt, Sonja (National Institutes of Health (Estats Units d'Amèrica)) ; Butrym, Aleksandra (Medical University of Wrocław) ; Norman, Aaron D. (Mayo Clinic) ; Casabonne, Delphine (CCIBER Epidemiología y Salud Pública (Madrid)) ; Luppi, Mario (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia) ; Slager, Susan L. (Mayo Clinic) ; Hemminki, Kari (Charles University in Prague) ; Li, Yang (CHannover Medical School) ; Alcoceba, Miguel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Campa, Daniele (Department of Biology. University of Pisa) ; Canzian, Federico (German Cancer Research Center (Alemanya)) ; De Sanjose, Silvia (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Försti, Asta (Hopp Children's Cancer Center) ; Netea, Mihai G. (University of Bonn) ; Jurado, Manuel (Instituto de Investigación Sanitaria de Granada) ; Sainz, Juan (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ; Universitat Autònoma de Barcelona
2022 - 10.1038/s41408-022-00676-8
Blood Cancer Journal, Vol. 12 Núm. 5 (may 2022) , p. 79  
10.
17 p, 2.4 MB Evolution of inbreeding : a gaze into five Italian beef cattle breeds history / Rovelli, Giacomo (Centre de Recerca en Agrigenòmica) ; Luigi Sierra, Maria Gracia (Centre de Recerca en Agrigenòmica) ; Guan, Dailu (Centre de Recerca en Agrigenòmica) ; Sbarra, Fiorella (National Association of Italian Beef-Cattle Breeders) ; Quaglia, Andrea (National Association of Italian Beef-Cattle Breeders) ; Sarti, Francesca Maria (University of Perugia. Department of Agricultural, Food and Environmental Sciences) ; Amills i Eras, Marcel (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Lasagna, Emiliano (University of Perugia. Department of Agricultural, Food and Environmental Sciences)
In the last decades, intensive selection programs have led to sustained increases of inbreeding in dairy cattle, a feature that might have adverse consequences on the viability and phenotypic performance of their offspring. [...]
2021 - 10.7717/peerj.12049
PeerJ, Vol. 9 (september 2021)  

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