Results 61 to 70 of about 25,475 (268)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

The Tibetan Plateau space-based tropospheric aerosol climatology: 2007–2020 [PDF]

Earth System Science Data
A comprehensive and robust dataset of tropospheric aerosol properties is important for understanding the effects of aerosol–radiation feedback on the climate system and reducing the uncertainties of climate models.
H. Pan, H. Pan, H. Pan, H. Pan, H. Pan, H. Pan, J. Huang, J. Li, Z. Huang, M. Wang, M. Wang, M. Wang, M. Wang, M. Wang, A. Mamtimin, A. Mamtimin, A. Mamtimin, A. Mamtimin, A. Mamtimin, W. Huo, W. Huo, W. Huo, W. Huo, W. Huo, F. Yang, F. Yang, F. Yang, F. Yang, F. Yang, T. Zhou, K. R. Kumar   +30 more
doaj   +1 more source

Biomass Native Structure Into Functional Carbon‐Based Catalysts for Fenton‐Like Reactions

Advanced Functional Materials, EarlyView.
This study indicates that eight biomasses with 2D flaky and 1D acicular structures influence surface O types, morphology, defects, N doping, sp2 C, and Co nanoparticles loading in three series of carbon, N‐doped carbon, and cobalt/graphitic carbon. This work identifies how these structural factors impact catalytic pathways, enhancing selective electron
Wenjie Tian, Jingkai Lin, Zhihao Tian, Selusiwe Ncube, Huayang Zhang, Emiliano Cortés, Hongqi Sun, Shaobin Wang   +7 more
wiley   +1 more source

Reversible Tuning of Multiple Molecular Kinking for Stem Cell Regulation In Vivo

Advanced Functional Materials, EarlyView.
In this work, we introduce the novel concept of background component‐free “multiple kinks” material platform composed solely of liganded multiple kink‐bearing molecules as a strategy for dynamic biomaterial design. Tri‐kink molecules enable effective near‐infrared light‐triggered ligand masking and visible light‐triggered ligand exposure, thereby ...
Kanghyeon Kim, Jeongah Shin, Chowon Kim, Honghwan Choi, Dahee Kim, Sungkyu Lee, Choongmo Kang, Hyunsik Hong, Taehoon Ha, Nayeon Kang, Jungyeon Rhi, Ramar Thangam, Yuri Kim, Jeongyun Heo, Cheol Hwan Kwak, Jangsun Hwang, Daun Jeong, Rasoul Moradi, Sunghoon Hur, Hyun‐Cheol Song, Hyun‐Do Jung, Min Jae Lee, Rongqin Huang, Pooyan Makvandi, Yun Suk Huh, Ji Hye Choi, Wenguo Cui, Sehoon Kim, Heemin Kang   +28 more
wiley   +1 more source

Plant life at the dry limit-Spatial patterns of floristic diversity and composition around the hyperarid core of the Atacama Desert.

PLoS ONE, 2020
Extreme arid conditions in the Atacama Desert in northern Chile have created a unique vegetation almost entirely restricted to the desert margins along the coast of the Pacific Ocean and the Andean range.
Jonathan Ruhm, Tim Böhnert, Maximilian Weigend, Felix F Merklinger, Alexandra Stoll, Dietmar Quandt, Federico Luebert   +6 more
doaj   +1 more source

A Magneto‐Mechanically Activated Nerve Guidance Conduit Promotes Peripheral Nerve Regeneration via TIMP1‐Mediated Membrane Tension Transfer

Advanced Functional Materials, EarlyView.
This study presents a magneto‐mechanical strategy that incorporates FP@MSCs into an aligned PCL/GelMA nerve guidance conduit. Magnetic stimulation increases membrane tension in FP@MSCs, triggering cytoskeletal remodeling, Schwann cell‐like differentiation, and TIMP1 secretion. TIMP1 activates ITGB1/CD63–FAK signaling in NE‐4C cells, increasing membrane
Xinyu Zhu, Yumin Wu, Xiang Gao, Tianlu Wang, Wanting Jia, Xueying Mei, Huanzhong Ji, Zongxi Wu, Yujie Liang, Xiang Li, Kan Li, Jingyuan Li, Guangsen Zheng, Guiqing Liao, Siyong Gao   +14 more
wiley   +1 more source

Potential role of left atrial appendage closure in trauma patients with atrial fibrillation on anticoagulation

Trauma Surgery & Acute Care Open
Introduction Patients with atrial fibrillation (AF) on anticoagulation (AC) have increased mortality after trauma. Left atrial appendage closure (LAAC) procedures may reduce the need for AC in patients with AF.
John Woods, Danielle Zaynab Azani, Hetal Bhakta, Albert Kazi, Bryan Love, Mallory Jebbia   +5 more
doaj   +1 more source

Intelligent Orthopedics: Machine Learning in Diagnosis of Bone Disease, Implants, and Bone Health Monitoring

Advanced Healthcare Materials, EarlyView.
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei, Hesam Mohammadi, Shamim Golafshan, Mojtaba Alehosseini, Mahsa Mohammadzadeh, Atefeh Golshirazi, Nasim Golafshan, Tatiane Eufrásio‐da‐Silva, Alireza Dolatshahi‐Pirouz, Gorka Orive   +9 more
wiley   +1 more source