Results 191 to 200 of about 573,776 (343)
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy [PDF]
, 2020 Adele D’Amico, Fabiana Fattori, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini +13 moreopenalex +1 more sourcePerformance Characteristics of Anti‐Collagen II Antibodies in Relapsing Polychondritis and Related Diseases: Prospective Analysis, Systematic Review, and Meta‐Analysis
Arthritis Care &Research, Accepted Article.Background
Relapsing polychondritis (RP) is a rare disease defined by recurrent cartilaginous inflammation. Anti‐collagen II (anti‐Col2) antibodies have been proposed as a diagnostic biomarker for RP, but their performance characteristics are not well defined.Karyssa Stonick, Marcela A. Ferrada, Alice Fike, Kaitlin A. Quinn, Benjamin A. Turturice, Casey Stein, Peter C Grayson +6 morewiley +1 more sourceMolecular characterization of pathogenic group B streptococcus from a tertiary hospital in Shanxi, China: High incidence of sequence type 10 strains in infants/pregnant women
, 2020 Li Zhang, Lan Ma, Lei Zhu, Xianghong Zhou, Lijun Xu, Chao Guo, Jinhua Meng, Xinhua Zhang, Qinghua Liu, Rui Huang +9 moreopenalex +1 more sourcePathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome [PDF]
, 2022 Joel T. Gibson, Omid Sadeghi‐Alavijeh, Daniel P. Gale, H. Rothe, Omid Sadeghi‐Alavijeh, Daniel P. Gale, Judy Savige, John C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, A. Giess, J. M. Hackett, Dina Halai, A. Hamblin, Shirley Henderson, John E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, L. J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, M. Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Andrea Orioli, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Álvaro Rendón, Pablo Riesgo-Ferreiro, T. Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K. R. Smith, Samuel C. Smith, A. Sosinsky, W. Spooner, H. E. Stevens, Alexander Stuckey, Rosy Sultana, M. Tanguy, Ellen Thomas, S. R. Thompson, C. Tregidgo, Arianna Tucci, Edward E. Walsh, S. A. Watters, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Judy Savige +87 moreopenalex +1 more sourceLipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue
Advanced Functional Materials, EarlyView.Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas +12 morewiley +1 more sourceMechanism of the Potential Therapeutic Candidate Bacillus subtilis BSXE-1601 Against Shrimp Pathogenic Vibrios and Multifunctional Metabolites Biosynthetic Capability of the Strain as Predicted by Genome Analysis
, 2020 Dongdong Wang, Jiahui Li, Guoliang Zhu, Kun Zhao, Wenwen Jiang, Haidong Li, Wenjun Wang, Vikash Kumar, Shuanglin Dong, Weiming Zhu, Xiangli Tian +10 moreopenalex +1 more sourceFunctional Materials for Environmental Energy Harvesting in Smart Agriculture via Triboelectric Nanogenerators
Advanced Functional Materials, EarlyView.This review explores functional and responsive materials for triboelectric nanogenerators (TENGs) in sustainable smart agriculture. It examines how particulate contamination and dirt affect charge transfer and efficiency. Environmental challenges and strategies to enhance durability and responsiveness are outlined, including active functional layers ...Rafael R. A. Silva, Giulio Fatti, Emanuel Carlos, Guilherme Ferreira, Sumita Goswami, Suman Nandy, Luiz H. C. Mattoso, Elvira Fortunato, Caio G. Otoni, Rodrigo Martins +9 morewiley +1 more source