Results 41 to 50 of about 2,021 (209)

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

Evolutionary adaptation of the amino acid and codon usage of the mosquito sodium channel following insecticide selection in the field mosquitoes. [PDF]

PLoS ONE, 2012
Target site insensitivity resulting from point mutations within the voltage-gated sodium channel of the insect nervous system is known to be of primary importance in the development of resistance to pyrethroid insecticides.
Qiang Xu, Lee Zhang, Ting Li, Lan Zhang, Lin He, Ke Dong, Nannan Liu   +6 more
doaj   +1 more source

Cellular Responses to Mechanical Cues Across Scales: From Fundamental Insights to Translational Potential

Advanced Healthcare Materials, EarlyView.
This review examines how cellular behavior is regulated by mechanical cues transmitted through soft biomaterials, from single‐cell mechanosensing to tissue‐level adaptation. It highlights why physiological relevance, rather than model complexity alone, is critical for translational mechanobiology and introduces a scoring framework linking material ...
Mathias Polz, Manuel P. Kainz, Niklas Haider, Theresa Rienmüller, Kerstin Lenk, Rupert Kargl, Michele Terzano, Gerhard Sommer, Gerhard A. Holzapfel, Julia Fuchs   +9 more
wiley   +1 more source

Identification of genome-wide nucleotide sites associated with mammalian virulence in influenza A viruses

Biosafety and Health, 2020
The virulence of influenza viruses is a complex multigenic trait. Previous studies about the virulence determinants of influenza viruses mainly focused on amino acid sites, ignoring the influence of nucleotide mutations.
Yousong Peng, Wenfei Zhu, Zhaomin Feng, Zhaozhong Zhu, Zheng Zhang, Yongkun Chen, Suli Liu, Aiping Wu, Dayan Wang, Yuelong Shu, Taijiao Jiang   +10 more
doaj   +1 more source

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency. [PDF]

PLoS Genetics, 2018
Synonymous mutations continue to be filtered out from most large-scale cancer genome studies, but several lines of evidence suggest they can play driver roles in neoplastic disease.
Valeria Pecce, Marialuisa Sponziello, Giuseppe Damante, Francesca Rosignolo, Cosimo Durante, Livia Lamartina, Giorgio Grani, Diego Russo, Cira Rosaria di Gioia, Sebastiano Filetti, Antonella Verrienti   +10 more
doaj   +1 more source

Organic Materials of Tomorrow: Horizons of Artificial Intelligence

Advanced Materials, EarlyView.
This review examines machine learning techniques accelerating the discovery of organic semiconductors by linking molecular structure to properties. Key methods include graph neural networks, generative models, and active learning. Applications to organic photovoltaics demonstrate practical impact.
Harold Mena, J. Terence Blaskovits, Kun‐Han Lin, Denis Andrienko   +3 more
wiley   +1 more source

Dual Role of Tamoxifen in Enhancing STING and CEACAM1 Expression to Prime a Favorable Tumor Microenvironment for Anti‐TIM3 Immunotherapy

Advanced Science, EarlyView.
Anti‐PD‐1/PD‐L1 blockade has revolutionized cancer immunotherapy, but is ineffective against endocrine‐treated (i.e., Tamoxifen), relapsed ER+ breast cancer (BC) patients. This study provides insight into the sub‐optimal response of ER+BCs to anti‐PD‐1/PD‐L1 blockade – highlighting the induction of STING and the CEACAM1/TIM3 axis after chronic ...
Marvin Angelo E Aberin, Saurabh Singh, Soumya Chatterjee, Guang‐Zhi Sui, Yi‐Fu Wang, Ya‐Ting Lu, Yu‐Ling Lee, Kun‐Yuan Lin, Joy Khag, Ta‐Yu Liu, Shao‐Han Chang, Wai‐Mui Cheung, Hsiao‐Chin Hong, Ren‐Jun Hsu, Chen‐Yang Shen, Chia‐Wei Li, Weng‐Lang Yang, Yao‐Ming Chang, Shih‐Yu Chen, Chandan Guha, Shu‐Ping Wang   +20 more
wiley   +1 more source

The impact of non-synonymous mutations on miRNA binding sites within the SARS-CoV-2 NSP3 and NSP4 genes

Scientific Reports, 2023
Non-synonymous mutations in the SARS-CoV-2 spike region affect cell entry, tropism, and immune evasion, while frequent synonymous mutations may modify viral fitness.
S. M. Ali Hosseini Rad, Dhammika Leshan Wannigama, Nattiya Hirankarn, Alexander D. McLellan   +3 more
doaj   +1 more source

Dynamic Regulation of Endogenous Transcription Factor Hubs at Single‐Molecule Resolution

Advanced Science, EarlyView.
This study combines single‐molecule microscopy and genome editing to characterize the dynamic behaviors of endogenous oncofusion transcription factor EWS::FLI1 in Ewing sarcoma cells. EWS::FLI1 forms neomorphic hubs that dynamically assemble and dissolve. The hubs are regulated during mitosis, by RNA, and by specific chemicals.
Shawn Yoshida, Yanghao Zhong, Akiko Kumagai, William G. Dunphy, Shasha Chong   +4 more
wiley   +1 more source

Molecular Study of Nucleotide Changes of ATPase6 and MT-CYB Genes in the Mitochondrial Genome of Patients with Familial Adenomatous Polyposis (FAP) [PDF]

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2023
Introduction: Familial adenomatous polyposis (FAP) is a rare and hereditary disease in which multiple precancerous polyps develop in the patient's colon. Familial adenomatous polyposis is caused by mutations in the APC gene (5q21).
Mohammad Mehdi Heidari, Fatemeh Ebrahimi, Zahra Shaker Ardakani, Mahsa Mirzaei, Shima Mirhosseini, Mehri Khatami   +5 more
doaj