Results 141 to 150 of about 171,175 (241)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases. [PDF]

Cell Rep Med
Aartsma-Rus A, de Gusmao CM, Demarest S, van Roon-Mom W, Graessner H, Bush LW, Kogel C, Yu TW, Synofzik M, Schuele R.   +9 more
europepmc   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Targeting ARF6-SUCNR1 Axis: Antisense Oligonucleotide Adjuvants for Neutrophil Immunometabolism. [PDF]

Int J Mol Sci
Wang Y, Chen Y.
europepmc   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Targeting Renal IGFBP7 With Tetrahedral Framework Nucleic Acid‐Delivered siRNA Alleviates Acute Kidney Injury

iNew Medicine, EarlyView.
A tFNA‐based siRNA delivery system targeting IGFBP7 effectively silences IGFBP7 expression and attenuates renal dysfunction, tubular injury, and cell death in both septic (CLP) and ischemic (I/R) murine models of acute kidney injury. ABSTRACT Objective Acute kidney injury (AKI) is a common and serious clinical condition, yet effective targeted ...
Shao‐qi Wu, Ying‐ying Gao, Meng‐yi Jia, Yu‐Hao Liu, Qian Zhou, Dong Liu, Yu Ren, Yu‐jie Liu, Feng‐he Li, Ya‐ru Yang, Jie Wang, Jia‐gen Wen   +11 more
wiley   +1 more source

Development of an antisense oligonucleotide targeting EFEMP1 in models relevant to macular degeneration. [PDF]

Mol Ther Nucleic Acids
Miller WP, Arevalo-Alquichire S, Perez-Corredor P, Lin R, Upreti A, Sanchez-Suarez J, Vanderleest TE, Marino C, Spencer D, Scribner M, Vargas J, Muriel-Torres A, Hu X, Adu-Rutledge Y, Kaplan BA, Barake KW, Gunawan AL, Vijikumar A, Shrestha R, Lennikov A, Kim LA, Arboleda-Velasquez JF, Peterson A, Agrawal S, Vathipadiekal V, Loya C, O'Hare M.   +26 more
europepmc   +1 more source

Enhanced CRISPR‐cas systems for genome editing and molecular diagnostics

Interdisciplinary Medicine, EarlyView.
This review systematically summarizes the major optimization strategies for CRISPR‐Cas systems, focusing on the engineering of Cas proteins, guide RNAs, reporter probes, and the incorporation of chemical additives. The aim is to enhance editing precision and diagnostic capability, thereby expanding the CRISPR system's potential for broader biomedical ...
Sheng Li, Han Li, Bojie Chen, Ling Jiang, Keyu Long, Jiaqi Lang, Xingxiang Pu, Erhu Xiong   +7 more
wiley   +1 more source

Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment. [PDF]

RNA Biol
Singh NN, Ottesen EW, Singh RN.
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source