Results 181 to 190 of about 1,791,159 (252)

Shared Genetic Architecture Between Common Epilepsies and Subcortical Brain Volumes Is Associated With Cognition and Mental Health

CNS Neuroscience &Therapeutics, Volume 32, Issue 10, October 2026.
Epilepsy is a common neurological disorder, often presenting with psychiatric comorbidities and cognitive impairment. Neuroimaging studies have suggested associations between epilepsy and subcortical volumetric abnormalities. Here, we dissected the shared genetic architecture between common epilepsies and subcortical volumes.
Zesheng Li, Qian Wu, Yanfeng Yang, Jianwei Shi, Xuegang Niu, Yuanyuan Zhang, Yumin Luo, Cheng Wei, Yongzhi Shan, Feng Liu, Josemir W. Sander, Guoguang Zhao   +11 more
wiley   +1 more source

Involvement of reduced ENPP1 function in the pathogenesis of ossification of the posterior longitudinal ligament. [PDF]

JBMR Plus
Kimura S, Furukawa K, Irie K, Adachi N, Hoshino Y, Hidaka N, Kato H, Miyahara J, Oshima Y, Doi T, Nangaku M, Makita N, Tanaka S, Saito T, Ito N.   +14 more
europepmc   +1 more source

CRISPR‐based therapeutic and modelling approaches in Huntington's disease: Progress, challenges and future directions

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Clustered regularly interspaced short palindromic repeat (CRISPR) is transforming Huntington's disease research through allele‐selective huntingtin (HTT) targeting, transcriptional and RNA suppression, and advanced disease modelling. Progress towards precision therapy depends on safe central nervous system (CNS) delivery, reduced off‐target and immune ...
Kairat Zhakipbekov, Surayyo Eshkabilova, Zokir Raximov, Sharof Eshonov, Abdusaid Khasanov, Ziyodulla Tokhtamurod, Axmadjan Ashurmetov, Avazbek Abduraxmanov, Niyozbek Abdurakhmonov, Elmurod Eshqobilov, Seyed Mohsen Mirhosseini, Amir Arsalan Ghahari   +11 more
wiley   +1 more source

A composite model of maize heterosis based on structural complementation and functional variants. [PDF]

Plant Genome
Guan T, Bi Y, Jiang F, Shaw RK, Fan X.
europepmc   +1 more source

Genetic associations in sepsis and ARDS. [PDF]

Front Pharmacol
Moroniti JJ, Rameshchandran PM, Guo M, Labuda V, Chandy M, Leligdowicz A.   +5 more
europepmc   +1 more source

A novel intronic variant ABO*AW allele resulting in weak A expression

Transfusion, EarlyView.
Yujung Jung, Samantha Harris, Shelley Fletcher, Lay See Er, Sunitha Vege, June Fertes, Mohammad Alam, Moritz Stolla, Theresa Nester   +8 more
wiley   +1 more source

Conserved and Tissue‐Specific RNA and Protein Cargos of Small Extracellular Vesicles From 120 Tissue Sites Across 34 Organs in a Single Pig

Journal of Extracellular Vesicles, Volume 15, Issue 10, October 2026.
A whole‐body map of sEVs from a single pig, including 133 samples spanning 10 systems, revealed striking tissue‐specific heterogeneity in yield. Importantly, a conserved core cargo set comprising candidate sEV markers (ACTG1, CFL1, and ANXA2), RNA‐binding proteins, the let‐7 miRNA family, and ferritin genes was defined from 105,409 (88.6% full‐length ...
Naixiang Yu, Jinxiu Liu, Chenliang Lai, Siyi Liu, Jiacheng Wei, Jiahong Zhong, Sanya Xiong, Qingjie Zeng, Junwu Ma, Zhou Zhang, Zhiyan Zhang   +10 more
wiley   +1 more source

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Journal of Clinical Investigation, 1994
Chia-Hsiang Chen, K. Astrin, Grace Lee, Karl E. Anderson, R. J. Desnick   +4 more
semanticscholar   +1 more source

TP53 Mutation Heterogeneity Refines Prognostic Stratification in IDH‐Wildtype Glioma

MedComm, Volume 7, Issue 10, October 2026.
This study reveals that TP53 mutations in IDH‐wildtype gliomas are prognostically heterogeneous. A variant allele frequency (VAF) ≥10% identifies a high‑risk subgroup, and mutations located in the β‑strand region of the DNA‑binding domain confer the poorest outcomes.
Kuilin Liao, Zhi Ye, Songtao Qi, Chang Xu, Yudi Huang, Zhiyong Li, Guozhong Yi, Yuou Qin, Qiuming Pan, Guiling Liu, Chao Chen, Zhuoyang Chen, Hongrui Li, Junxi Wang, Xi'an Zhang, Guanglong Huang, Shanqiang Qu   +16 more
wiley   +1 more source

Targeted Epstein-Barr virus capture sequencing identifies BBLF4-L322M as an independent prognostic variant in nasopharyngeal carcinoma. [PDF]

Microbiol Spectr
Luo S, Huang Z, Shi N, Chen F, Xiang W, Ren Y, Xia W, Tang A.   +7 more
europepmc   +1 more source