Results 151 to 160 of about 903,775 (310)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

Advanced Functional Materials, EarlyView.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo, Mi Jeong Lee, Hyun Wook Kang, Seonhee Byeon, Soo‐Kyoung Choi, Nakwon Choi, Seung‐Woo Cho, Yoonhee Jin   +7 more
wiley   +1 more source

Exploring an Alternative to mRNA Vaccine Cold Chain Storage: MRNA‐Lipid Nanoparticle Stability When Dried in a Polymer Matrix

Advanced Functional Materials, EarlyView.
The nanostructure, size, and function of mRNA‐loaded lipid nanoparticles are evaluated before drying, within polymer microneedles, and after rehydration. The results reveal the polymer and LNP loadings required to recover nanostructure and preserve the delivery performance in dry‐state formulations.
Brendan P. Dyett, Shahad K. Alsaiari, John L. Daristotle, Timothy A. Forster, Alicia Lau, Dhruv Varshney, Rania Afaneh, Andrew R. Hanna, Charles Sloane, David Mankus, Haitao Yu, Jiali Zhai, DongSoo Yun, Lisa H. Tostanoski, Abigail Lytton‐Jean, Dan H. Barouch, Charlotte E. Conn, Robert Langer, Ana Jaklenec, Calum J. Drummond   +19 more
wiley   +1 more source

7SK Small Nuclear RNA [PDF]

, 2020
openaire   +1 more source

Infusible Extracellular Matrix Biomaterial Enhances Cell‐Specific Pro‐Repair Responses Following Acute Myocardial Infarction

Advanced Healthcare Materials, EarlyView.
We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin, Alexander Chen, Quincy P. Lyons, Michael B. Nguyen, Maria L. Karkanitsa, Justin Yu, Van K. Ninh, Emily Gardner, Elyse G. Wong, Sriya N. Paleti, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Colin G. Luo, Zhenxing Fu, Kevin R. King, Karen L. Christman   +18 more
wiley   +1 more source

RNA export through the nuclear pore complex: pathways, mechanisms, and imaging strategies. [PDF]

RNA Biol
Fu D, Yu W, Zhang F, Rush C, Tingey M, Yang W.   +5 more
europepmc   +1 more source

Genipin‐Crosslinked, Silane‐Anchored 3D Tumor–Stroma Microtissues for High‐Content On‐Chip Drug Testing

Advanced Healthcare Materials, EarlyView.
We describe a microfluidic tumor‐stroma co‐culture model, engineered to resist collagen‐hydrogel contraction driven by fibroblast activity. Surface silanization with APTES covalently anchors the matrix to the chip, while Genipin crosslinking progressively increases stiffness and elasticity without harming cells. This supports >10 days of co‐culture and
Doriane Le Manach, Reza Kowsari‐Esfahan, Emilia Reszczyńska, Philippe Nghe, Matthias Nees   +4 more
wiley   +1 more source

RNA G-quadruplex-protein interactions: from nuclear RNA processing to cytoplasmic stress response and neurodegeneration. [PDF]

RNA Biol
Anastasakis DG, Hafner M.
europepmc   +1 more source