Results 141 to 150 of about 184,715 (310)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report

The Application of Clinical Genetics
Ying Wang, Shaohua Bi, Xiaoqing Shi, Liying Dai Division of Neonatology, Anhui Provincial Children’s Hospital, Hefei, Anhui, 230051, People’s Republic of ChinaCorrespondence: Liying Dai, Division of Neonatology, Anhui Province Children’s Hospital, No. 39,
Wang Y, Bi S, Shi X, Dai L
doaj  

Transparent Inorganic–Organic Bilayer Neural Electrode Array and Integration to Miniscope System for In Vivo Calcium Imaging and Electrophysiology

Advanced Functional Materials, EarlyView.
This study presents the BioCLEAR system, a highly transparent and conductive neural electrode array composed of silver nanowires (AgNWs) and doped PEDOT:PSS, enabling neural recordings with minimal optical artifacts. When integrated with a GRIN lens, this cost‐effective neural implant allows simultaneous electrophysiological recording and GCaMP6‐based ...
Dongjun Han, Kevin Cheng, Swathy Sampath Kumar, Anil Bollimunta, Elizabeth E. Torr, Juhwan Kim, Kyoungmin Kim, Hyungjun Choi, Seongkwon Hwang, Sarah Brodnick, David Cheng, Lindsay Gray, Yei Hwan Jung, William L. Murphy, Aaron J. Suminski, Jonathan J. Nassi, Justin C. Williams, Dong‐Wook Park   +17 more
wiley   +1 more source

A Smart Bio‐Battery Facilitates Diabetic Bone Defect Repair Via Inducing Macrophage Reprogramming and Synergistically Modulating Bone Remodeling Coupling

Advanced Functional Materials, EarlyView.
This research presents a novel implantable bio‐battery, GF‐OsG, tailored for diabetic bone repair. GF‐OsG generates microcurrents in high‐glucose conditions to enhance vascularization, shift macrophages to the M2 phenotype, and regulate immune responses.
Nanning Lv, Haifu Sun, Wenxiang Tang, Yonggang Li, Zhonglai Qian, Lihui Hong, Chong Chen, Hongye Li, Jiaxiang Bai, Yusen Qiao, Mingming Liu   +10 more
wiley   +1 more source

Integrative Approaches for DNA Sequence‐Controlled Functional Materials

Advanced Functional Materials, EarlyView.
DNA is emerging as a programmable building block for functional materials with applications in biomimicry, biochemical, and mechanical information processing. The integration of simulations, experiments, and machine learning is explored as a means to bridge DNA sequences with macroscopic material properties, highlighting current advances and providing ...
Aaron Gadzekpo, Ewa Anna Oprzeska‐Zingrebe, Mariana Kozlowska, Lennart Hilbert, Iliya D. Stoev   +4 more
wiley   +1 more source

Generation of an Induced Pluripotent Stem Cell‐Derived Alveolar Type II In Vitro Model to Study Influenza A Virus Infection and Drug Treatments

Advanced Healthcare Materials, EarlyView.
Patient‐specific induced pluripotent stem cells (iPSCs) can be differentiated into alveolar type II cells (iAT2s), expanded as 3D alveolospheres, and grown at physiologically relevant air–liquid interface (ALI). This study shows for the first time the infectability of iAT2s by the influenza A virus (IAV) and proves their responsiveness to the well ...
Lena Gauthier, Hristina Koceva, Yann Bachelot, Rosanne W. Koutstaal, Puck B. van Kasteren, Marc Thilo Figge, Christian Eggeling, Alexander Sandy Mosig   +7 more
wiley   +1 more source

Decellularized Extracellular Matrix Scaffolds to Engineer the Dormant Landscape of Microscopic Colorectal Cancer Liver Metastasis

Advanced Healthcare Materials, EarlyView.
Decellularized liver extracellular matrix scaffolds provide a platform to study dormant liver‐metastatic colorectal cancer. They induce reversible dormancy, in combination with nutrient depletion and low dose chemotherapy, through cell cycle arrest and chemotherapy resistance.
Sabrina N. VandenHeuvel, Lucia L. Nash, Abigail J. Clevenger, Claudia A. Collier, Oscar R. Benavides, Sanjana Roy, Brinlee Goggans, Aelita Salikhova, Anvitha Tharakesh, Svasti Haricharan, Amber N. Stratman, Scott Kopetz, Alex J. Walsh, Shreya A. Raghavan   +13 more
wiley   +1 more source

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark

Genes
The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent–child trios, who had
Yang Pei, M. Tanguy, A. Giess, Abhijit Dixit, L. C. Wilson, Richard J. Gibbons, S. Twigg, Greg Elgar, Andrew O. M. Wilkie   +8 more
semanticscholar   +1 more source

Few‐Layered Conductive Graphene Foams for Electrical Transdifferentiation of Mesenchymal Stem Cells Into Schwann Cell‐Like Phenotypes

Advanced Healthcare Materials, EarlyView.
Few‐layered three dimansional conductive graphene foams are promising cytocompatible platforms to transdifferentiate mesenchymal stem cells into Schwann cell‐like phenotypes using electrical and microstructural cues. Applied electrical stimulation conditions resulted in activation of MAPK, neurotrphin and RAS signaling pathways that led to upregulation
Ekin G. Simsar, Peifu Cheng, Tugce Dogruel, Maxsam Donta, Juhyung Jung, Naomi A. Asante, Donald S. Sakaguchi, Surya K. Mallapragada, Piran R. Kidambi, Metin Uz   +9 more
wiley   +1 more source