Results 71 to 80 of about 10,370 (207)

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 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 link between adjacent codon pairs and mRNA stability

BMC Genomics, 2017
Background Evidence in diverse organisms suggests that codon optimality is a major determinant of mRNA translation and degradation. Codon optimality is thought to act by modulating the efficiency of ribosome elongation.
Yuriko Harigaya, Roy Parker
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Inhibition of VEGF‐Induced Angiogenesis and Vascular Leakage by Bicistronic Co‐Expression of Aflibercept and COMP‐Ang1

Advanced Healthcare Materials, EarlyView.
A bicistronic rAAV8 vector encoding Aflibercept (Afb) and COMP‐cAng1 simultaneously coordinates VEGF clearance and Tie2‐mediated vessel maturation. In a 3D angiogenesis‐on‐a‐chip model, rAAV8‐Afb/cAng1 effectively reverses pathological barrier breakdown under clinical disease‐mimicking challenges.
Bong‐Kyu Kim, Jaehong Min, Sang‐Hee Park, Subeen Shin, Sangbin Yu, Jeong‐Eun Park, Sujin Kim, Wooju Park, Jihoon Ko, Sunjong Kwon   +9 more
wiley   +1 more source

The complete chloroplast genome of Gerbera piloselloides (L.) Cass., 1820 (Carduoideae, Asteraceae) and its phylogenetic analysis

Open Life Sciences
Gerbera piloselloides (L.) Cass., 1820 of the genus Gerbera is of importance in Chinese ethnic medicine. In this research, the whole genome DNA of G. piloselloides was extracted and sequenced using the Illumina NovaSeq platform, its chloroplast genome ...
Sheng Wentao
doaj   +1 more source

Lipid Nanoparticle Co‐Delivery of mRNA and a Small Molecule Drug for Oral Cancer Chemoimmunotherapy

Advanced Materials, EarlyView.
Co‐encapsulation of p53 mRNA and the small molecule ciclopirox within a lipid nanoparticle yields an all‐in‐one chemoimmunotherapy for oral squamous cell carcinoma. The platform engages caspase‐driven apoptosis in cancer cells while repolarizing tumor‐associated macrophages, achieving tumor reduction in both p53‐susceptible and p53‐resistant models and
Marshall S. Padilla, Jacqueline J. Li, Qunzhou Zhang, Korey Patwari, Shihong Shi, Hannah M. Yamagata, Ryann A. Joseph, Briyanna N. Hymms, Sridatta V. Teerdhala, Emily Fitzgerald, Ori Z. Chalom, Kushol Gupta, Mohamad‐Gabriel Alameh, Drew Weissman, Anh D. Le, Michael J. Mitchell   +15 more
wiley   +1 more source

DNATagger, colors for codons

Genetics and Molecular Research, 2008
DNATagger is a web-based tool for coloring and editing DNA, RNA and protein sequences and alignments. It is dedicated to the visualization of protein coding sequences and also protein sequence alignments to facilitate the comprehension of evolutionary processes in sequence analysis.
N M, Scherer, D M, Basso
openaire   +2 more sources

GPR124 Alleviates Blood–Brain Barrier Disruption by Enhancing Microvascular Endothelial Function after Traumatic Brain Injury

Advanced Science, EarlyView.
Our study reveals the protective role of GPR124 in maintaining BBB integrity and promoting neurological recovery following TBI. It makes a significant contribution by uncovering a novel molecular interaction between GPR124 and FGFBP1 and linking this to activation of the Wnt/β‐catenin signaling pathway in vascular repair mechanisms.
Chen Wang, Lin Cai, Qiuyuan Gong, Yang Yang, Yuqing Liang, Xinyu Niu, Lai Wei, Ze Liu, Shengju Wu, Yinghui Men, Yaohui Tang, Jun Ding, Hengli Tian, Hao Chen   +13 more
wiley   +1 more source

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source