Results 141 to 150 of about 394,574 (252)

Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD

Advanced Science, EarlyView.
Integrating bulk and single‐nucleus RNA‐seq from ALS and FTD patients, we revealed distinct cellular dysfunctions, with severe oligodendrocyte damage in ALS and pronounced neuron loss in FTD. We identified cell‐type‐specific aberrant splicing events as potential biomarkers with robust classification performance, some of which produce de novo peptides ...
Chen Du, Yinming Li, Rong Wu, Yufei Shen, Jiayi Yang, Xuan Xiao, Yu Zhou   +6 more
wiley   +1 more source

Adaptive Genetic Variation in Black-and-White Snub-Nosed Monkeys (<i>Rhinopithecus bieti</i>): Low Diversity and the Role of Balancing Selection. [PDF]

Ecol Evol
Long F, Ying MJ, Shi TQ, Garber PA, Pan RL, Lai JD, Huang ZP, Li BG, Zhang P.   +8 more
europepmc   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network

Advanced Science, EarlyView.
A retinoic acid receptor agonist, TTNPB, drives the efficient generation of advanced neural stem cells (ANSCs) from human pluripotent stem cells. TTNPB‐centered chromatin remodeling and metabolic reprogramming, promote neuroectoderm commitment. The resulting cells show robust neural potential and functional efficacy in a rat depression model.
Ruilin Du, Yudi Ren, Qiaoqiao Meng, Peng Wei, Ruyu Zhu, Junjie Bao, Ye Yang, Shuo Yan, Chaorong Yue, Xueying Zhu, Shuo Cao, Chunxia Hao, Wei Sun, Yongli Song, Xihe Li, Zhimin Wu, Siqin Bao, Yanglin Chen   +17 more
wiley   +1 more source

Identification and functional characterization of a novel pathogenic <i>COL1A1</i> splicing variant in a Chinese family with osteogenesis imperfecta. [PDF]

Front Genet
Nie H, Chen Y, Qin P, Xie G, Zhang D, Sun Y, Mo Y.   +6 more
europepmc   +1 more source

GbWAKL20 Phosphorylates GbNFYB8 to Modulate Verticillium Wilt Resistance in Cotton

Advanced Science, EarlyView.
Wall‐associated receptor‐like kinases (WAKLs) play pivotal roles in extracellular–intracellular signal transduction. Upon sensing Verticillium dahliae infestation at the plasma membrane, GbWAKL20 accumulates and transmits signals to the nucleus via endoplasmic reticulum‐mediated Golgi vesicle transport.
Guilin Wang, Qingxin Si, Zhiguo Chen, Zhe Yu, Zhan Guo, Lu Wang, Weixi Li, Wangzhen Guo   +7 more
wiley   +1 more source

Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations. [PDF]

Ann Lab Med
Seo EJ.
europepmc   +1 more source

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

Advanced Science, EarlyView.
This work introduces an open‐source all‐optical platform for functional phenotyping of human stem cell‐derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and analysis to resolve single‐cell and network activity, enabling longitudinal measurements, disease modeling, and pharmacological screening in preclinical ...
Wardiya Afshar‐Saber, Federico M. Gasparoli, Ziqin Yang, Nicole A. Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D. Buttermore, Kellen D. Winden, Cidi Chen, Mustafa Sahin   +12 more
wiley   +1 more source

RNA-based discovery and correction of splicing defects caused by <i>POLR3A</i> missense mutations. [PDF]

Mol Ther Nucleic Acids
Shkreta L, Delannoy A, Toutant J, McSwiggen J, Chabot B.   +4 more
europepmc   +1 more source

Exon [PDF]

, 2018
openaire   +2 more sources