Results 1 to 10 of about 4,429 (159)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Molecular Interplay of PARN and Telomerase: Tail Modifiers and Disease Implications

WIREs RNA, Volume 17, Issue 4, July/August 2026.
Schematic representation of the molecular interplay between PARN, telomerase‐associated, and the involvement of p53 in regulating telomere maintenance and genome stability. The top panel shows how normal PARN levels are involved in regulating p53 levels and balanced telomerase activity through their regulatory interaction with TERC and TERRA, thus ...
Sujitha Felicitus, Shalon Suzanne Pinto, Sai Samanvitha Madagundapalli Ramakrishna, Dechamma Pandyanada Nanjappa, Gunimala Chakraborty, Anirban Chakraborty   +5 more
wiley   +1 more source

The Rice Cis‐Natural Antisense Transcript NAT1850 of Pri‐miR1850 Negatively Regulates Cold Tolerance by Repressing NPR3

Plant Biotechnology Journal, Volume 24, Issue 6, Page 3969-3988, June 2026.
ABSTRACT Natural antisense transcripts (NATs) correspond to nearly 60% of annotated rice loci, however their functions are largely unknown. In this study, we characterise a rice cis‐NAT (NAT1850) that completely overlaps with a rice‐specific primary miRNA, pri‐miR1850.
Yang Shen, Yan Wang, Lijia Yang, Dongpeng Li, Weifeng Dong, Xijuan Zhang, Weibing Yang, Hui Xie, Jin Liu, Shiyong Song, Mingzhe Sun, Xiaoli Sun   +11 more
wiley   +1 more source

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a lysosomal storage disorder, causes early childhood psychomotor regression, vision loss, seizures, and rapid progressive gray matter loss. However, the link between neurodegenerative processes induced by lysosomal pathophysiology and the clinical phenotype remains unclear.
Marvin Petersen, Lena Marie Westermann, Luca Hagenah, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Felix L. Naegele, Nils‐Ole Gloyer, Fabian Flottmann, Jens Fiehler, Götz Thomalla, Bastian Cheng, Angela Schulz   +12 more
wiley   +1 more source

Mitophagy‐Oxidative Stress Molecular Subtypes Define an Immunosuppressive Ecosystem and Vulnerabilities in Glioblastoma

Journal of Cellular and Molecular Medicine, Volume 30, Issue 10, May 2026.
ABSTRACT Glioblastoma (GBM) is an aggressive brain tumour with an immunosuppressive environment and poor prognosis; however, the roles of mitophagy and oxidative stress in its prognosis remain underexplored. This study analysed multi‐omics data from TCGA‐GBM (n = 168) and two GEO cohorts (GSE43378, n = 50; GSE147352, n = 85), compiling 603 mitophagy ...
Changjiang He, Yang Wang, Hongliang Zhong   +2 more
wiley   +1 more source

Synthesis, Properties, Applications and Challenges of Multicomponent Doped Organic Room Temperature Phosphorescence Materials

Aggregate, Volume 7, Issue 3, March 2026.
The multi‐component doping strategy, involving self‐assembly, host‐guest systems, and crystal engineering, has gained attention for its simplicity, cost‐effectiveness, structural diversity, and adjustable room‐temperature phosphorescence (RTP). This review summarizes and evaluates the progress in creating RTP materials using this strategy, highlighting
Zhenjie Zhou, Huizhong Wang, Junxiong Yao, Tian Wang, Jianhua Liu, Xiaohua Cao, Qiang Feng, Bingbing Yue, Dianyuan Wang, Jianguo Wang, Huanan Huang   +10 more
wiley   +1 more source

Moderate Regulation of SBEIIb Gene Expression by Editing Cis‐Regulatory Elements Enhances the Resistant Starch Content in Rice

Plant Biotechnology Journal, Volume 24, Issue 3, Page 1635-1648, March 2026.
ABSTRACT As the staple food of over half the world's population, rice with a high resistant starch (RS) content may be beneficial in the dietary prevention of diabetes and hyperlipidemia. Mutating key enzymes in starch metabolism to increase the RS content has been successful in other crops.
Qingqing Yang, Ying Ye, Jiannan Zhu, Yan Tan, Dongsheng Zhao, Qiaoquan Liu   +5 more
wiley   +1 more source

PFOS Disrupts Oocyte Maturation and Early Embryonic Development via Ovarian FOXK1 O‐GlcNAcylation in Mice

Advanced Science, Volume 13, Issue 12, 27 February 2026.
Perfluorooctane sulfonate (PFOS) exposure disrupts oocyte maturation and early embryonic development. This study elucidates the mechanism by which enhanced O‐GlcNAcylation of FOXK1 underlies the PFOS‐induced reduction of progesterone levels in granulosa cells and the disturbance of follicular microenvironment.
Shuwen Han, Qin Yuan, Zhu Wu, Yaohui Fang, Hong Qian, Jiale Zhu, Yuchen Zhang, Ke Deng, Liangliang Su, Haibo Xu, Haotian Shu, Yiming Gong, Qiaoqiao Xu, Guizhen Du, Di Wu, Yun Fan, Chuncheng Lu   +16 more
wiley   +1 more source