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Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source

Canine brachycephalic obstructive airway syndrome as a model for studying the effects of obstructive sleep apnea during pregnancy

Animal Models and Experimental Medicine, EarlyView.
We observed a negative effect of brachycephalic obstructive airway syndrome (BOAS) in a staggered manner based on the severity of the condition on respiratory and cardiac patterns, glycemia, acid–base balance, fetal growth, and uterine artery hemodynamics, thus requiring adaptations within the fetal–placental unit. Severely affected bitches had uterine
Roberto Rodrigues da Rosa Filho +4 more
wiley +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

Advanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia +10 more
wiley +1 more source

Recent Advances in Stimulated Brillouin Scattering in Integrated Photonics

Advanced Physics Research, EarlyView.
This review systematically surveys recent advances in stimulated Brillouin scattering (SBS) within integrated photonics. It begins by elucidating the fundamental mechanisms of stimulated coupling between photons and acoustic phonons in nanoscale waveguides, enhanced by the photoelastic and moving boundary effects.
Songyue Liu +8 more
wiley +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu +12 more
wiley +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

Arthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan +12 more
wiley +1 more source

Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis

Arthritis &Rheumatology, EarlyView.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source

Integrated Clinical and Proteomic Profiling of CD19 CAR‐T Cell Therapy in Progressive Systemic Sclerosis

Arthritis &Rheumatology, Accepted Article.
Objective To characterize the clinical, immunologic, and proteomic changes associated with CD19 chimeric antigen receptor T‐cell therapy in patients with progressive systemic sclerosis. Methods Patients with progressive systemic sclerosis received CD19 CAR‐T cell therapy and were followed longitudinally for safety, clinical efficacy, immune ...
Chenhan Jia +16 more
wiley +1 more source

Technique for Lateral Opening Wedge Distal Femoral Osteotomy Using Patient‐Specific Instrumentation for Genu Valgum and Patellar Instability

Arthroscopy Techniques, EarlyView.
Abstract Recurrent lateral patellar instability poses a technical challenge to orthopaedic surgeons. Isolated soft‐tissue procedures through medial patellofemoral ligament reconstruction or lateral release show unacceptably high failure rates. Lateral opening wedge distal femoral osteotomy addresses underlying bony malalignment and reinforces the soft ...
Alexander P. Decilveo +4 more
wiley +1 more source

The task of detecting inconspicuous flying objects based on recording changes in the radiation characteristics of the Starlink satellite network

Вестник Самарского государственного технического университета. Серия: Технические науки
This work is devoted to the detection of inconspicuous flying objects (unmanned aerial vehicles) by ground-based means. The analysis of traditional methods of solving the problem under consideration, based on the use of active radar, is carried out.
Vladimir N. Vorozheikin, Dmitry A. Polyakov +1 more
doaj +1 more source

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