Results 111 to 120 of about 2,439,265 (261)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 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

Economic evaluations of single- versus double-embryo transfer in IVF

, 2007
Multiple pregnancies lead to complications and induce high costs. The most successful way to decrease multiple pregnancies in IVF is to transfer only one embryo, which might reduce the efficacy of treatment.
Land, J. A., Severens, J. L., Dirksen, C. D., Fiddelers, A. A. A., Dumoulin, J. C. M., Evers, J. L. H.   +5 more
core   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen, Jianbing Xiong, Ziran Ou, Tianhao Zhao, Hui Li, Jun Huang, Zhi Tian, Wuyang Cao   +7 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

IN VITRO BUFFALO EMBRYO DEVELOPMENT IN DEFINEDMEDIA SUPPLEMENTED WITH TRI-SODIUM CITRATE AND MYO-INOSITOL [PDF]

Assiut Veterinary Medical Journal, 2003
M.R. Badr, G.M. Darwish
doaj   +1 more source

Embryo transfer from EWOD embryos to pseudo-pregnant female mice.

, 2015
Panel A, Preparation of recipient mice for embryo transfer. Panel B, Pups was born after transfer of embryo cultured from EWOD. The recipients were allowed to deliver and raise pups.
Hong-Yuan Huang (733606), Da-Jeng Yao (733613), Chin-Jung Li (733609), Cheng-Hsien Liu (733611), Chang-Hung Tien (733608), Hsien-Hua Shen (733607), Shih-Kang Fan (733610), Wen-Syang Hsu (733612)   +7 more
core   +1 more source

Biodegradable and Biocompatible Functional Polymers for Biomedical Applications

Advanced Functional Materials, EarlyView.
Biodegradable and biocompatible functional polymers integrate electrical, mechanical, and stimuli‐responsive functionalities while enabling programmed degradation under physiological conditions. This review introduces recent advances in conductive, shape‐memory, self‐healing, photocurable, and adhesive polymer systems, emphasizing material design ...
Won Bae Han, Shuvra Mondal, Sungkeun Han, Chan‐Hwi Eom, Venkata Ramesh Naganaboina, Suk‐Won Hwang   +5 more
wiley   +1 more source

An Epigenetic Fate Converter Based on Nuclei‐Targeting Lipid Nanoparticles Drives Neuronal Programming of Stem Cells for Spinal Cord Repair

Advanced Functional Materials, EarlyView.
Schematic illustration of LNP‐MPG nuclei‐targeting delivery of HMW‐FGF2 promoting histone acetylation to regulate the fate of DPSCs and treat spinal cord injury. LNPs components include pHMW‐FGF2 plasmid, DSPC, Dlin‐MC3‐DMA, cholesterol, and PEG2000, and are modified with MPG to form HMW‐FGF2@LNP‐MPG (HLM). HLM nuclei‐targets DPSCs to deliver HMW‐FGF2,
Heng Zhou, Qiang Qin, Xiqin Li, Hanyu Ding, Chun Xu, Yan He, Qingsong Ye   +6 more
wiley   +1 more source

Genetically Programmed Shape‐Morphing of Engineered Living Materials

Advanced Functional Materials, EarlyView.
Here, bacterial and mammalian engineered living materials (ELMs) are presented, in which living cells direct genetically programmed and enzymatically mediated shape‐morphing. The resulting deformation and shape‐recovery can be actuated in a genetically controlled manner by an ELM incorporating out‐of‐equilibrium counteracting biochemical reactions with
Jan Becker, Yuchen Liu, Miguel Baños, Rosanne Schmachtenberg, Mahmudul Hasan, Claudia Fink‐Straube, Luai R. Khoury, Wilfried Weber   +7 more
wiley   +1 more source