Results 141 to 150 of about 454,191 (307)

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

The silence of the genes [PDF]

Age and Ageing, 2001
openaire   +2 more sources

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Genome-wide identification and characterization of argonaute, dicer-like, and RNA-dependent RNA polymerase gene families in potato (Solanum tuberosum): Advancing RNA interference-based crop enhancement.

PLoS ONE
In eukaryotic species, RNA silencing is a conserved mechanism for controlling gene expression. The RNA-dependent RNA polymerase (RDR), argonaute (AGO), and dicer-like (DCL) proteins are essential for RNA silencing.
Md Nahid Hasan Shuvo, Mahmudul Hassan, Md Abu Musa, Riday Hossain, Jesmin Naher Konak, Zobaer Akond, Fee Faysal Ahmed   +6 more
doaj   +1 more source

Silencing gene silence [PDF]

Nature Biotechnology, 1999
openaire   +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

Pull‐and‐Push Nanotherapeutic Hydrogels: Scavenging Inflammatory Triggers While Driving Tissue Regeneration in Burn Wounds

Advanced Functional Materials, EarlyView.
A nanounit‐assembled hydrogel employing a “pull‐and‐push” strategy simultaneously scavenges pro‐inflammatory cell‐free DNA (cfDNA) and delivers regenerative therapeutics in response to burn‐induced hyperthermia. By repolarizing macrophages and promoting angiogenesis, this multifunctional platform accelerates burn wound healing, offering a blueprint for
Han‐Sem Kim, Seong‐Jin Shin, Sak Lee, Nandin Mandakhbayar, Ji‐Hye Kang, Da‐Young Kong, Seong‐Doo Hong, Ueon Sang Shin, Hae‐Won Kim, Jung‐Hwan Lee   +9 more
wiley   +1 more source