Results 141 to 150 of about 219,632 (346)
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort [PDF]
, 2012 Armand Valsesia, Brian J. Stevenson, Dawn Waterworth, Vincent Mooser, Péter Vollenweider, Gérard Waeber, C. Victor Jongeneel, J. Beckmann, Zoltán Kutalik, Sven Bergmann +9 moreopenalex +1 more sourceHeat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies
Animal Research and One Health, EarlyView.Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke +6 morewiley +1 more sourceDistinct Effects of Complement C4A and C4B Copy Numbers in Systemic Sclerosis Serological and Clinical Subtypes
Arthritis &Rheumatology, EarlyView.Objective
Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. The variable copy number (CN) of C4 genes and retroviral human endogenous retrovirus K (HERV‐K) element influence its function.Javier Martínez‐López, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Alfredo Guillen‐Del‐Castillo, Carmen P Simeón‐Aznar, José L Callejas, Oliver Distler, International SSc Group, P. Carreira, I. Castellvi, R. Ríos, N. Ortego‐Centeno, R. García Portales, A. Fernández‐Nebro, F. J. García‐Hernández, M. A. Aguirre, B. Fernández‐Gutiérrez, L. Rodríguez‐Rodríguez, P. García de la Peña, E. Vicente, J. L. Andreu, M. Fernández de Castro, F. J. López‐Longo, V. Fonollosa, G. Espinosa, C. Tolosa, A. Pros, L. Tío, E. Beltrán, M. Rodríguez Carballeira, F. J. Narváez, M. Rubio Rivas, V. Ortiz‐Santamaría, A. B. Madroñero, M. A. González‐Gay, B. Díaz, L. Trapiella, M. V. Egurbide, P. Fanlo‐Mateo, L. Saez‐Comet, F. Díaz, J. A. Roman‐Ivorra, J. J. Alegre Sancho, M. Freire, F. J. Blanco Garcia, N. Oreiro, T. Witte, G. Riemekasten, P. Airo, C. Magro, M. C. Vonk, R. Hesselstrand, A. Nordin, C. Lunardi, G. Moroncini, A. Gabrielli, A. Hoffmann‐Vold, J. H. W. Distler, Clinical Immunology, L. Padyukov, T. R. D. J. Radstake, G. Orozco, A. Barton, C. Fonseca, PRECISESADs Clinical Consortium, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Miguel Angel González‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Rafaela Ortega‐Castro, M Angeles Aguirre‐Zamorano, Alejandro Escudero‐Contreras, M. Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Susanna M Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), A. Apostolopoulos, G.‐S. Ngian, J. Sahhar, Australia Victoria, N. Ferdowsi, D. Hansen, W. Stevens, L. V. Host, G. Major, A. Quinlivan, L. Ross, M. Tabesh, J. Walker, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K de Vries‐Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E. Alarcon‐Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta‐Herrera, Martin Kerick +156 morewiley +1 more sourceHighly Parallel SNP Genotyping
Cold Spring Harbor Symposia on Quantitative Biology, 2003 J B, Fan, A, Oliphant, R, Shen, B G, Kermani, F, Garcia, K L, Gunderson, M, Hansen, F, Steemers, S L, Butler, P, Deloukas, L, Galver, S, Hunt, C, McBride, M, Bibikova, T, Rubano, J, Chen, E, Wickham, D, Doucet, W, Chang, D, Campbell, B, Zhang, S, Kruglyak, D, Bentley, J, Haas, P, Rigault, L, Zhou, J, Stuelpnagel, M S, Chee +27 moreopenaire +2 more sourcesOGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor
Arthritis &Rheumatology, EarlyView.Objective
To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang +9 morewiley +1 more source