Results 51 to 60 of about 1,057,814 (256)

NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy

Brain Disorders, 2023
Recently, biallelic variants in NKX6-2 have been reported to cause central nervous system hypomyelination. Clinical presentation of previously reported patients included two distinct phenotypes: a neonatal-onset with severe presentation, and a milder ...
Shaymaa Shurrab, Dawn Cordeiro, Saadet Mercimek-Andrews, Andrew Y․ Shuen   +3 more
doaj   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Microfluidic Droplet Plate Preserving Single Human Induced Pluripotent Stem Cell‐Derived Cardiomyocytes Morphology and Function

Advanced Materials Technologies, EarlyView.
We introduce a novel method combining microfluidics, optogenetics, and human induced pluripotent stem cell (iPSC) technology to encapsulate single iPSC‐derived cardiomyocytes (iPSC‐CMs) in an optimal environment for functional characterization. This method enables direct genotype‐phenotype correlation for genetic studies and high‐throughput screening ...
Xiao‐Ting Wang, Rachel P. White, Yashasvi Tharani, Michael A. Finocchiaro, Leona M. Ripple, Maksymilian Prondzynski, Tania Konry, Vassilios J. Bezzerides   +7 more
wiley   +1 more source

A Case of Wolfram Syndrome from South India: Diabetologist’s Perspective

International Journal of Diabetes and Technology
Wolfram syndrome (WS), also called diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy, and deafness as well ...
Shahana Yasmin, R. Sreelakshmi, Gopika Krishnan, Jothydev Kesavadev   +3 more
doaj   +1 more source

CD9+ B Cells Induce T Follicular Helper Cell Apoptosis to Regulate Germinal Center Regression

Advanced Science, EarlyView.
A unique subset of CD9+ B cells regulates germinal center B (GC‐B) cell regression by inducing T follicular helper (Tfh) cell apoptosis through multiple signaling pathways, such as ALCAM‐CD6. FOXP1 plays a key role in GC‐B cell differentiation. These findings clarify mechanisms of GC degeneration and termination and offer potential targets for adenoid ...
Wenjing Liao, Lijuan Song, Meiqian Xu, Tianhao Liang, Yixuan Chen, Gui Chen, Zaihuan Lin, Huakang Du, Guofei Feng, Zhiming Feng, Qi Zhang, Fan Pan, Saixuan Yang, Xinyin Zhang, Wenxu Peng, Tianlong Li, Zhuoshen Lin, Yabang Chen, Jiayi Liu, Baoxin Peng, Yan Liu, Xing Niu, Ting Li, Chengyu Huang, Ke Mo, Jianlei Xie, Yu Zou, Xiaowen Zhang   +27 more
wiley   +1 more source

Retrograde and Anterograde Optic Atrophy

, 2021
Summary: • Optic atrophy represents damage to nerve\u27s axon or cell body o Can happen in the anterograde/orthograde or retrograde direction o Ophthalmoscopic finding of optic atrophy is due to Wallerian degeneration of the optic nerve axon o Results in
Andrew G. Lee, MD; Alicia Chen
core  

Trans-synaptic degeneration of the optic radiation from optic nerve atrophy [PDF]

, 2021
Fourty-seven-year-old woman with 5-year history of progressive decreased left eye vision. Optical coherence tomography showed optic nerve atrophy (left > right) and brain MRI revealed T2 hyperintense signal along the course of left optic radiations ...
Villablanca, Pablo, Arnold, Anthony C, Nael, Kambiz, Pawha, Puneet S, Kihira, Shingo   +4 more
core   +1 more source

The Mind From Within: Visceral Roots of Human Cognition

Advanced Science, EarlyView.
The physiological activity of visceral organs, such as the heart, the lungs, and the gut, is surprisingly linked to many sophisticated mental operations, such as remembering the past, being aware of ourselves, making choices, and forging social bonds.
Alessandro Monti, Salvatore Maria Aglioti   +1 more
wiley   +1 more source

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child

The Turkish Journal of Pediatrics, 2000
We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy.
H Tekgül, S Tütüncüoğlu
doaj  

Early Retinal UCHL1 Dysregulation Coupled With Synaptic Loss Reflects Alzheimer's Disease Severity

Advanced Science, EarlyView.
This study identifies synapse‐enriched deubiquitinase UCHL1 as an early Aβ‐responsive regulator of retinal synaptopathy in Alzheimer's disease. Retinal UCHL1 loss accompanies excitatory synapse degeneration, p75NTR activation, and neuroinflammation, and predicts Braak stage and cognitive decline. Aβ42 fibrils trigger synaptic and UCHL1 depletion before
Altan Rentsendorj, Jean‐Philippe Vit, Alexandre Hutton, Yosef Koronyo, Saba Shahin, Edward Robinson, Ernesto Barron, Anthony Rodriguez, Ousman Jallow, Julia Sheyn, Bhakta Prasad Gaire, Lalita Subedi, Miyah R. Davis, Barathan Gnanabharathi, Alexander V. Ljubimov, Stuart L. Graham, Vivek K. Gupta, Mehdi Mirzaei, Debra Hawes, Katlin Silm, Keith L. Black, Lon S. Schneider, Alfredo A. Sadun, Jesse G. Meyer, Dieu‐Trang Fuchs, Maya Koronyo‐Hamaoui   +25 more
wiley   +1 more source