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]

open access: gold, 2020
Adele D’Amico   +13 more
openalex   +1 more source

Performance Characteristics of Anti‐Collagen II Antibodies in Relapsing Polychondritis and Related Diseases: Prospective Analysis, Systematic Review, and Meta‐Analysis

open access: yesArthritis 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   +6 more
wiley   +1 more source

Pathogenic Analysis of the Bronchoalveolar Lavage Fluid Samples With Pediatric Refractory Mycoplasma pneumoniae Pneumonia [PDF]

open access: gold, 2020
Fei Zhao   +8 more
openalex   +1 more source

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome [PDF]

open access: gold, 2022
Joel T. Gibson   +87 more
openalex   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

open access: yesAdvanced 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   +12 more
wiley   +1 more source

Mechanism 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

open access: gold, 2020
Dongdong Wang   +10 more
openalex   +1 more source

Smart, Bio‐Inspired Polymers and Bio‐Based Molecules Modified by Zwitterionic Motifs to Design Next‐Generation Materials for Medical Applications

open access: yesAdvanced Functional Materials, EarlyView.
Bio‐based and (semi‐)synthetic zwitterion‐modified novel materials and fully synthetic next‐generation alternatives show the importance of material design for different biomedical applications. The zwitterionic character affects the physiochemical behavior of the material and deepens the understanding of chemical interaction mechanisms within the ...
Theresa M. Lutz   +3 more
wiley   +1 more source

Functional Materials for Environmental Energy Harvesting in Smart Agriculture via Triboelectric Nanogenerators

open access: yesAdvanced 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   +9 more
wiley   +1 more source

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