Results 91 to 100 of about 77,106 (331)

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

Frontiers in Genetics
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development.
Ewa Gajewska, Jędrzej Fliciński, Magdalena Sobieska, Joanna Michalska, Marcin Żarowski, Barbara Steinborn   +5 more
doaj   +1 more source

The Immune Microenvironment: New Therapeutic Implications in Organ Fibrosis

Advanced Science, EarlyView.
This review summarizes recent advances in understanding the immune microenvironment's role in fibrosis, focusing on phenotypic/functional alterations of immune cells and their dynamic interactions with other cellular constituents within tissues. The authors further explore therapeutic opportunities and challenges in targeting immune microenvironment ...
Xiangqi Chen, Chuan Wu, Fei Tang, Jingyue Zhou, Li Mo, Yanping Li, Jinhan He   +6 more
wiley   +1 more source

Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

Journal of Neuromuscular Diseases, 2019
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness.
D. Schorling, A. Pechmann, J. Kirschner
semanticscholar   +1 more source

Targeting eRNA‐Producing Super‐Enhancers Regulates TNFα Expression and Mitigates Chronic Inflammation in Mice and Patient‐Derived Immune Cells

Advanced Science, EarlyView.
Targeting eRNAs from TNFα‐associated super‐enhancers with ASOs effectively reduces TNFα expression and inflammatory responses in both mouse models and patient‐derived immune cells. The conserved nature of these regulatory regions between species highlights the potential of eRNA‐targeted approaches as a therapeutic strategy for chronic inflammatory ...
Minjeong Cho, Su Min Kim, Jiyeon Lee, Oh Chan Kwon, Wonjin Woo, Eunji Lee, Hyo Jin Park, Yeongun Lee, So Hee Dho, Tae‐Kyung Kim, Min‐Chan Park, Richard A. Flavell, Lark Kyun Kim   +12 more
wiley   +1 more source

Beyond Heat Harvesting: Thermoelectric Materials and Hybrid Devices for Smart Sensing and Sustainable Technologies

Advanced Energy Materials, EarlyView.
The review highlights the multifunctional capabilities of thermoelectric sensors integrated with advanced features such as biocompatibility, advanced integration, self‐healing, and environmental adaptability. Emphasizing sustainability and adaptability, these sensors offer enhanced durability, increased efficiency, reduced waste, and seamless ...
Neeraj Dhariwal, Preety Yadav, Akanksha, Sakshi Bisht, Ramesh Chandra, O. P. Thakur, Paul V. Braun, Sung Bum Kang, Amit Sanger, Vinod Kumar   +9 more
wiley   +1 more source

Proximal spinal muscular atrophy 5q

Нервно-мышечные болезни, 2020
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article Editorial
doaj  

The Effect of Immersion Technology on the Quality of Life in Older Adults: A Systematic Review

AGING MEDICINE, EarlyView.
Immersive technologies, especially virtual reality (VR), significantly improve the quality of life for older adults by enhancing physical health, cognitive function, and psychological well‐being. These technologies can be adapted to meet individual needs, making them an effective tool for addressing the challenges of aging.
Solmaz Sohrabei, Vahideh Zolfaghari, Seyed Jafar Ehsanzadeh   +2 more
wiley   +1 more source

PROGRESSIVE SPINAL MUSCULAR ATROPHY OF INFANTS (WERDNIG-HOFFMANN TYPE) [PDF]

, 1912
F. E. Batten, Gordon Holmes
openalex   +1 more source

A Wearable Soft Actuator for Directional Tactile Stimulation: Design and Testing

Advanced Intelligent Systems, EarlyView.
A wearable actuator able to produce directional tactile stimulation is obtained by embedding a planar shape memory spring in silicone matrix. The matrix is designed taking into account skin characteristics and leveraging its multifunctionality: it acts as a bias load, improves the thermal behavior of the spring and wearability.
Fabio Lazzari, Jacopo Romanò, Davide Faranna, Lorenzo Garavaglia, Francesco Volontè, Carlo Fanciulli, Simone Pittaccio   +6 more
wiley   +1 more source