Results 61 to 70 of about 64,882 (210)

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity

Neurobiology of Disease, 2014
Myotonic dystrophy type 1 (DM1) is caused by transcription of CUG repeat RNA, which causes sequestration of muscleblind-like 1 (MBNL1) and upregulation of CUG triplet repeat RNA-binding protein (CUG-BP1).
Yoshihiro Yamashita, Tohru Matsuura, Tatsuaki Kurosaki, Yoshinobu Amakusa, Masanobu Kinoshita, Tohru Ibi, Ko Sahashi, Kinji Ohno   +7 more
doaj   +1 more source

Targeting Post‐Irradiation Thyroid Dysfunction: Electrospun Scaffolds As A Dual‐Action Approach for Antioxidant and Immune Modulation

Advanced Healthcare Materials, EarlyView.
Radiation‐induced hypothyroidism follows head and neck radiotherapy due to oxidative stress and inflammation. Electrospun polycaprolactone scaffolds containing adenosine have potential to modulate thyroid repair. Scaffolds enhance thyrocyte proliferation, antioxidant enzymes glutathione peroxidase and catalase, reduce senescence and apoptosis markers ...
Maria Heim, Ella‐Louise Handley, Daniel Grant, Lizi M. Hegarty, Elaine Emmerson, Anthony Callanan   +5 more
wiley   +1 more source

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Human Genomics
Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle   +9 more
doaj   +1 more source

A Versatile Microfluidic Extrusion‐Based Hydrogel Platform for Self‐Organization and Long‐Term Maintenance of Engineered 3D Lymphatic Endothelium

Advanced Healthcare Materials, EarlyView.
Microfluidic coaxial extrusion generates size‐controlled 3D lymphatic tubes from primary human dermal lymphatic endothelial cells in a defined four‐component matrix. These engineered vessels self‐organize into stable lymphatic endothelium, maintain selective macromolecular permeability for 30 days, and enable direct comparison with blood endothelial ...
Elsa Mazari‐Arrighi, Adeline Boyreau, Laura Chaillot, Wilfried Souleyreau, Laetitia Andrique, Pierre‐Olivier Guichet, Thomas Mathivet, Andreas Bikfalvi, Pierre Nassoy   +8 more
wiley   +1 more source

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Frontiers in Genetics, 2019
Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2.
Lulu Li, Yixuan Cao, Feiyue Zhao, Bin Mao, Xiuzhi Ren, Yanzhou Wang, Yun Guan, Yi You, Shan Li, Tao Yang, Xiuli Zhao   +10 more
doaj   +1 more source

Transducers Across Scales and Frequencies: A System‐Level Framework for Multiphysics Integration and Co‐Design

Advanced Materials Technologies, EarlyView.
Transducers convert physical signals into electrical and optical representations, yet each mechanism is bounded by intrinsic trade‐offs across bandwidth, sensitivity, speed, and energy. This review maps transduction mechanisms across physical scale and frequency, showing how heterogeneous integration and multiphysics co‐design transform isolated ...
Aolei Xu, Mengyao Xiao, Zhouli Sui, Yinpeng Wang, Daoye Zheng, Yuxin Liu, Luwei Wang, Huajun Liu, Chengkuo Lee   +8 more
wiley   +1 more source

FiN‐Kiri: Fabric‐Based Inflatable Kirigami Actuator for Multimodal Soft Robots

Advanced Robotics Research, EarlyView.
This study introduces a type of inflatable fabric‐based kirigami actuator capable of performing bending motion. The actuator is utilized as soft grippers, a crawling robot and a swimming robot. The crawling robot demonstrated extraordinary motion capabilities, such as moving forward, turning and navigating a narrow tunnel.
Yang Yu, Yupei Zhang, Yanqi Yin, Yehui Wu, Jinyao Zhang, Ruiyu Bai, Jiaqiang Yao, Kewei Su, Chenyi Yu, Zhicheng Tian, Naipeng Li, Zhuang Zhang, Bo Li   +12 more
wiley   +1 more source

Targeting RNA splicing modulation: new perspectives for anticancer strategy?

Journal of Experimental & Clinical Cancer Research
The excision of introns from pre-mRNA is a crucial process in the expression of the majority of genes. Alternative splicing allows a single gene to generate diverse mRNA and protein products.
Xuemei Lv, Xiaoyu Sun, Yang Gao, Xinyue Song, Xiaoyun Hu, Lang Gong, Li Han, Miao He, Minjie Wei   +8 more
doaj   +1 more source

TRMT6‐Mediated m1A Modification of CDK9 mRNA Is a Dual‐Pronged Pathogenic Driver for HBV‐Related Hepatocellular Carcinoma

Advanced Science, EarlyView.
TRMT6‐mediated m1A modification in CDK9 mRNA enhances its mRNA stability and translation efficiency, thereby increasing the protein levels of CDK9. Upregulated CDK9 promotes the progression of HCC by elevating the levels of oncogenic factors including p‐STAT3, MCL1, and BCL‐2. On the other hand, CDK9 phosphorylates TARDBP at Ser254 to activate HBV core
Rui Zhang, Dandan Zong, Rui Liu, Yubo Wang, Qingqing Gu, Yao Yao, Wenfang Zheng, Mengmeng Yuan, Simeng Wang, Rongrong Cui, Daxu Li, Siwen Dang, Peng Hou   +12 more
wiley   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source