Results 121 to 130 of about 79,704 (286)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Domain-based prediction of the human isoform interactome provides insights into the functional impact of alternative splicing.

PLoS Computational Biology, 2017
Alternative splicing is known to remodel protein-protein interaction networks ("interactomes"), yet large-scale determination of isoform-specific interactions remains challenging.
Mohamed Ali Ghadie, Luke Lambourne, Marc Vidal, Yu Xia   +3 more
doaj   +1 more source

MiR‐30a‐5p mediates epileptogenesis in epilepsy models by targeting SOX4 to regulate the Wnt/β‐catenin pathway

Epilepsia Open, EarlyView.
Abstract Objective The pathogenesis of epilepsy is closely associated with neuronal synaptic plasticity. MicroRNAs (miRNAs) can regulate various biological processes by binding to specific sequences on target genes. This study employs bioinformatics, molecular dynamics, and experimental approaches to investigate the mechanism by which MiR‐30a‐5p treats
Zhenlin Yang, Xu Zhang, Jingjing Guo, Yuanxin Wei, Jinzi Li   +4 more
wiley   +1 more source

A systems biology approach to prediction of oncogenes and molecular perturbation targets in B‐cell lymphomas

Molecular Systems Biology, 2008
The computational identification of oncogenic lesions is still a key open problem in cancer biology. Although several methods have been proposed, they fail to model how such events are mediated by the network of molecular interactions in the cell.
Kartik M Mani, Celine Lefebvre, Kai Wang, Wei Keat Lim, Katia Basso, Riccardo Dalla‐Favera, Andrea Califano   +6 more
doaj   +1 more source

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. [PDF]

, 2015
Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by intrusive thoughts and urges and repetitive, intentional behaviors that cause significant distress and impair functioning.
Askland, KD, Bienvenu, OJ, Cullen, BA, Fyer, AJ, Geller, DA, Goes, FS, Grados, MA, Greenberg, BD, Knowles, JA, Lange, C, Liang, K-Y, Maher, B, Mattheisen, M, McCracken, JT, McLaughlin, NC, Murphy, DL, Nestadt, G, Nurmi, EL, Pauls, DL, Piacentini, J, Pulver, AE, Qin, H-D, Rasmussen, SA, Riddle, MA, Samuels, JF, Shugart, YY, Stewart, SE, Valle, D, Wang, Y   +28 more
core  

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Substrate Characterization of Mycobacterial Kinase PknG Revealing PknG‐KARS‐MAPK Phosphorylation Signaling Axis in Host

iMetaMed, EarlyView.
This study employed multi‐omics approaches to investigate the regulatory mechanism of Mycobacterium PknG on host cell processes. We found that host lysine‐tRNA ligase (KARS) is a potential substrate of PknG; and PknG can regulate the immune response by catalyzing the phosphorylation of KARS at T592 and T595 sites, affecting the phosphorylation level in
Nana Tian, Shuyu Xie, Yanqing Tang, Junjie Liang, Wenhan Zhu, Tianqi Liu, Yewen Sun, Yang Yang, Luoxi Zhang, Danfeng Wang, Chuyao Lin, Jinyu Jia, Minjia Tan, Jun‐Yu Xu   +13 more
wiley   +1 more source

Exploring the role of EBV in multiple sclerosis pathogenesis through EBV interactome

Frontiers in Immunology
BackgroundEpstein-Barr virus (EBV) is a known risk factor for multiple sclerosis (MS), even though the underlying molecular mechanisms are unclear and engage multiple immune pathways.
Chiara Ballerini, Roberta Amoriello, Olfa Maghrebi, Gianmarco Bellucci, Ilaria Addazio, Matteo Betti, Maria Grazia Aprea, Camilla Masciulli, Arianna Caporali, Valeria Penati, Clara Ballerini, Ermelinda De Meo, Emilio Portaccio, Marco Salvetti, Marco Salvetti, Maria Pia Amato, Maria Pia Amato   +16 more
doaj   +1 more source

Progress of metabolomics‐centric multi‐omics research in medicine

iMetaOmics, EarlyView.
The graphical abstract illustrates a holistic roadmap for metabolomics‐centric multi‐omics integration in medical research. The upper panel depicts the technological transition from traditional bulk analysis to high‐resolution single‐cell and spatial methodologies, specifically addressing inherent challenges such as molecular complexity and dynamic ...
Ziyi Wang, Shiwen Deng, Xiaoxu Wang, Xiao Chang, Na Guo, Peng Chen, Hongjun Yang   +6 more
wiley   +1 more source

SUMOylation regulates tumorigenesis and progression: Molecular mechanisms and therapeutic applications

Interdisciplinary Medicine, EarlyView.
SUMOylation, a dynamic post‐translational modification, acts as a master regulator at the heart of tumor malignancy. Our work delineates how the SUMOylation cycle—mediated by E1/E2/E3 enzymes and reversed by SENPs—orchestrates multiple hallmarks of cancer. The central pathway converges on three critical pathological axes: 1.
Yimao Wu, Zichang Chen, Yinting Hu, Gokhan Zengin, Qian Zhang, Meng‐Yao Li, Wenlong Sun   +6 more
wiley   +1 more source