Results 121 to 130 of about 117,100 (294)

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

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

VIVID: A qPCR‐Based Platform for Sensitive and Quantitative In Vivo Tracking of Extracellular Vesicles

Advanced Functional Materials, EarlyView.
This study introduces VIVID (Vesicle In Vivo Identification using DNA), a qPCR‐based platform that tracks PCR‐amplifiable DNA tags loaded in the EVs for accurate and quantifiable EV biodistribution in vivo. ABSTRACT Extracellular vesicles (EVs) represent promising carriers for nucleic acid therapeutics, offering advantages over synthetic nanoparticles ...
Oscar Boyadjian, Talin Ebrahimian, Jonathan Miranda O'Connor, Janusz Rak, Stephanie Lehoux, Maryam Tabrizian   +5 more
wiley   +1 more source

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

Molecular Genetics & Genomic Medicine, 2020
Background Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases ...
Tiziana Fioretti, Silvana Ungari, Maria Savarese, Fabio Cattaneo, Enza Pirozzi, Gabriella Esposito   +5 more
doaj   +1 more source

MTR4 drives liver tumorigenesis by promoting cancer metabolic switch through alternative splicing. [PDF]

, 2020
The metabolic switch from oxidative phosphorylation to glycolysis is required for tumorigenesis in order to provide cancer cells with energy and substrates of biosynthesis.
Chen, Wancheng, Dou, Wenlong, Feng, Bingbing, Fu, Xuemei, He, Yang-Fan, Ji, Kai-Yuan, Jiang, Lei, Kim, Jinchul, Li, Qingjiao, Mai, Taoyi, Tang, Qingshuang, Xiang, Le-Yang, XU, Yang, Yang, Dinghua, Ying, Yue, Yu, Lili, Zhou, Jianlong   +16 more
core   +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

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

Nuclear RNA Surveillance in \u3cem\u3eSaccharomyces cerevisiae\u3c/em\u3e: Trf4p-dependent Polyadenylation of Nascent Hypomethylated tRNA and an Aberrant Form of 5S rRNA [PDF]

, 2006
1-Methyladenosine modification at position 58 of tRNA is catalyzed by a two-subunit methyltransferase composed of Trm6p and Trm61p in Saccharomyces cerevisiae.
Anderson, James T., Kadaba, Sujatha A., Wang, Xuying   +2 more
core   +1 more source

Aberrant splicing of rat steroid 17α-hydroxylase transcripts

Gene, 1995
Polymerase chain reaction amplification of the cDNA encoding steroid 17 alpha-hydroxylase (P450c17) demonstrated very low levels of this transcript and a shorter variant of still lower abundance in rat adrenals and brain. Sequence analysis of the two amplified products revealed that the shorter variant resulted from a deletion of the second exon which ...
J L, Sanne, K E, Krueger
openaire   +2 more sources

Engineering of Glioblastoma‐Derived Biomimetic Vesicles and Their Structural and Molecular Features

Advanced Healthcare Materials, EarlyView.
ABSTRACT Biomimetic nanosystems and vesicles have arisen as a novel approach to design vesicular transport systems with diverse therapeutic potential. The ‘biomimetic’ strategy involves the integration of cell membrane components into lipid bilayers, conferring them with biological properties originating from the cell of origin. Until now, most studies
Noelia Hernández‐Lobato, Hanan Abumanhal‐Masarweh, Martí de Cabo, Pablo Guerra, Marilena Hadjidemetriou, Neus Lozano, Kostas Kostarelos   +6 more
wiley   +1 more source