Results 71 to 80 of about 45,554 (278)

Engineered ETS1‐Nanoconjugate Restores Immune Homeostasis through Dual Immune‐Vascular Modulation in Relapsing and Progressive Multiple Sclerosis

Advanced Healthcare Materials, EarlyView.
The biomimetic nanoplatform IMNP (ETS1 pDNA/PBAE@ITP‐MM) undergoes targeted disassembly at inflammatory vascular sites to release the ETS1 plasmid (pETS1). This release initiates a cascade of effects that inhibit pathogenic pathways and support immune homeostasis. (Abbreviations: EndMT, endothelial‐to‐mesenchymal transition; EC, endothelial cell; TC, T
Feng Zhang, Si‐Bo Yang, Yan Luo, Xiao‐Di Sun, Bo‐Hao Chang, Da‐Qiang Zhou, Jun‐Jie Jiang, Ya‐Nan Li, Jie‐Hong Wu, Hui‐Juan Jin, Hang Yang, Hang Hu, Yi‐Fan Zhou, Bo Hu   +13 more
wiley   +1 more source

PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

Epilepsia Open
Protein‐activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21‐activated kinases (PAKs) family of Ras‐signaling serine/threonine kinases.
Antonio Gambardella, Yu‐Chi Liu, Mark F. Bennett, Timothy E. Green, John A. Damiano, Francesco Fortunato, Matthew J. Coleman, Jacqueline Cherfils, Jean‐Vianney Barnier, Jozef Gecz, Melanie Bahlo, Samuel F. Berkovic, Michael S. Hildebrand   +12 more
doaj   +1 more source

Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression

Nature Communications, 2016
BRAG1 mutations are linked to synaptic deficits and X-chromosome linked intellectual disability. Here, the authors show that BRAG1 mediates activity-dependent removal of synaptic AMPA receptors via Arf-GEF activity and PDZ interactions, and is required ...
Joshua C. Brown, Amber Petersen, Ling Zhong, Miranda L. Himelright, Jessica A. Murphy, Randall S. Walikonis, Nashaat Z. Gerges   +6 more
doaj   +1 more source

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Orphanet Journal of Rare Diseases, 2022
Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis.
Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy   +15 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene

Stem Cell Research, 2022
Aristaless-related homeobox (ARX)-related disorders are recessive X-linked intellectual disability disorders. We encountered a patient with a hemizygous mutation (c.1507_1508del) showing intellectual disability, early-onset epileptic encephalopathy and ...
Chunmei Wang, Yilin Wang, Wuhen Xu, Xuefeng Lin, Jiaming Xi, Simei Wang, Longlong Lin, Fang Yuan, Anqi Wang, Chao Wang, Xiaona Luo, Quanmei Xu, Rongrong Yin, Yuanfeng Zhang, Xiaoyi Huang, Yucai Chen   +15 more
doaj   +1 more source

Bioinspired Adaptive Sensors: A Review on Current Developments in Theory and Application

Advanced Materials, EarlyView.
This review comprehensively summarizes the recent progress in the design and fabrication of sensory‐adaptation‐inspired devices and highlights their valuable applications in electronic skin, wearable electronics, and machine vision. The existing challenges and future directions are addressed in aspects such as device performance optimization ...
Guodong Gong, You Zhou, Qingxiu Li, Wenyu Zhao, Sunyingyue Geng, Hangfei Li, Yan‐Bing Leng, Shirui Zhu, Guanglong Ding, Yongbiao Zhai, Ziyu Lv, Ye Zhou, Su‐Ting Han   +12 more
wiley   +1 more source

Solvent‐Free Thermal Defect Engineering in Molecular Frameworks With Volatile Linkers

Advanced Materials, EarlyView.
Thermal removal of neutral volatile linkers enables precise and solvent‐free generation of metal vacancies in MOFs. This strategy affords redox‐stable, coordinatively unsaturated FeII sites with tunable spin, ligand coordination, and catalytic behavior. The approach offers a general route to design defect‐functional materials through local coordination
Sonia Martínez‐Giménez, Alejandro Orellana‐Silla, Marta Galbiati, Efrén Navarro‐Moratalla, Luca Braglia, Sara Stolfi, José Antonio Real, Víctor Rubio‐Giménez, Sergio Tatay, Carlos Martí‐Gastaldo   +9 more
wiley   +1 more source

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

BMC Medical Genetics, 2012
Background Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show
Hanchard Neil A, Carvalho Claudia MB, Bader Patricia, Thome Aaron, Omo-Griffith Lisa, del Gaudio Daniela, Pehlivan Davut, Fang Ping, Schaaf Christian P, Ramocki Melissa B, Lupski James R, Cheung Sau Wai   +11 more
doaj   +1 more source

Cross‐Scale Hierarchical Targeted Delivery System Based on Small‐Scale Magnetic Robots

Advanced Robotics Research, EarlyView.
This article reviews a cross‐scale hierarchical targeted delivery system that integrates magnetic continuum robots and magnetic microrobots. By combining rapid long‐range navigation with precise microscale targeting, the system overcomes key limitations of single‐scale approaches.
Junjian Zhou, Zhiqiang Chen, Yuanbiao Ma, Zhiqiang Tang, Qianqian Wang   +4 more
wiley   +1 more source

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source