Results 141 to 150 of about 443,266 (297)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Macrophage RSAD2 Couples mtDNA Synthesis With a Self‐Amplifying Inflammatory Circuit to Orchestrate Tissue Repair

Advanced Science, EarlyView.
Macrophage RSAD2 dually regulates CMPK2—the rate‐limiting enzyme for mitochondrial DNA synthesis—by suppressing its ubiquitination and promoting its phosphorylation via Csnk2a2 recruitment. This amplifies mtDNA production, which simultaneously activates a cGAS‐STING‐IRF3‐RSAD2 feedforward loop and the NLRP3 inflammasome, driving a self‐sustaining ...
Haomiao Yuan, Shukui Du, Chunfei Li, Xinjie Li, Shuyang Mu, Anran Qu, Hengxu Yan, Chongchong Xu, Jinnong Yang, Jingkai Sun, Yijun Wang, Jiayang Xiao, Fuyuan Zhang, Linlin Wang, Tiegang Li, Rui Zhao, Dawei Guan   +16 more
wiley   +1 more source

Epilepsy [PDF]

BMJ, 1948
openaire   +2 more sources

MethyAnno: An Interpretable Automated Annotation Method Leveraging Multi‐Scale Information and Metric Learning Framework for scDNAm Data

Advanced Science, EarlyView.
MethyAnno enables robust and interpretable annotation of single‐cell DNA methylation data by integrating multi‐scale epigenetic information, bidirectional cross‐attention, and prototype‐based metric learning. The framework resolves rare and novel cell types across datasets while revealing cell‐type‐specific epigenetic signatures associated with disease
Yuhang Jia, Siyu Li, Songming Tang, Keju Gu, Shengquan Chen   +4 more
wiley   +1 more source

Epilepsy [PDF]

Postgraduate Medical Journal, 1935
openaire   +2 more sources

Highly‐Time‐Resolved Measurements of Tryptophan's Distribution and Homeostatic Regulation in Live, Intact Animals

Advanced Science, EarlyView.
Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu, Chelsea N. Brown, Zeki Duman, Rose Mery Bakestani, Carl M. Kirkpatrick, Joao Hespanha, Tod Kippin, Kevin W. Plaxco   +7 more
wiley   +1 more source

High-frequency visual stimulation can increase medial temporal lobe ripple oscillation density

Communications Medicine
Background Flickering visual stimulation can evoke neural oscillations, which can influence ongoing brain activity. Electrophysiological recordings of neural oscillations in the ripple band (80–180 Hz) show that these high-frequency oscillations occur in
Julian Keil, Victor Hernandez-Urbina, Liam Doherty, Hamed Bahmani, Martin Holtkamp, David Steinbart, Alexandra-Dikorey Diall, Jonas M. Hebel, Christian Brandt, Thomas Cloppenborg, Anna Doll, Markus Müschenich   +11 more
doaj   +1 more source

Single‐Cell Profiling Reveals Clonally Expanded CX3CR1+ T Cells in Anti‐NMDA Receptor Encephalitis

Advanced Science, EarlyView.
CX3CR1+ T cells are associated with peripheral and central immune alterations in anti‐NMDA receptor encephalitis (NMDAR‐E). They show potential responsiveness to GluN1 (NR1) peptides, potential interactions with peripheral B cells, clonal expansion, increased CD137/CD154 expression, and inflammatory cytokine production. Their preferential cerebrospinal
Lin Yan, Erdi Zhang, Yuwen Ma, Zirui Meng, Sisi Li, Yimeng Ren, Xiaohe Tian, Yangyi He, Giuseppe Battaglia, Dong Zhou, Yun Liao, Binwu Ying, Jinmei Li, Minjin Wang   +13 more
wiley   +1 more source

Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

Stem Cell Research
Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by ...
Song Su, Ying Ren, Hongwei Zhang, Yi Liu, Yong Liu, Zilong Li, Tong Zhang, Fang Fang   +7 more
doaj   +1 more source

Antigen‐Detected NMR for Minimal Epitope Engineering and Structure‐Guided Selection of a NaV1.7‐Selective Nanobody

Advanced Science, EarlyView.
A minimal extracellular epitope from voltage‐gated sodium channel NaV1.7 was engineered into an isotope‐labelled antigen for antigen‐detected nuclear magnetic resonance (NMR). Together with AlphaFold2 (AF2), this enabled structure‐guided selection of R4C8, a human NaV1.7‐selective nanobody that labels fixed NaV1.7‐expressing cells and produces staining
Junyu Liu, Wanlin Chen, Ben Cristofori‐Armstrong, Theo Crawford, Kai‐En Chen, Peng Xie, Rainbow Wing Bo Chan, Yifei Zhu, Mimi Golder, Anneka Pereira Schmidt, Jennifer D. Naughton, Nicholas D. Condon, Åsa Andersson, Farhad Dehkhoda, Kirsten L. McMahon, Tabea Klasfauseweh, Ashvriya Thapa, Hue Tran, Poanna Tran, Sina Jami, Lotten Ragnarsson, Sebastian G. B. Furness, Jennifer R. Deuis, Brett M. Collins, Wai‐Hong Tham, Indira Prasadam, Irina Vetter, Mehdi Mobli   +27 more
wiley   +1 more source