Results 91 to 100 of about 431,100 (179)

Interplay of RNA m6A/m1A/m5C/m7G/ψ Regulators Predicting the Prognosis of Pancreatic Cancer

FASEB BioAdvances, Volume 8, Issue 5, May 2026.
In this study, we comprehensively analyze the 64 RNA modification regulators, including 24 m6A regulators, 13 m1A regulators, 12 m5C regulators, 9 m7G regulators, and 12 pseudouridine regulators in pancreatic cancer in TCGA, GTEx, and HPA databases. We investigate their RNA and protein expression, their association with patients' clinical significance,
Shiyin Chen, Jiawei Mao, Lin Xu, Linbei Lu, Yajuan Hao   +4 more
wiley   +1 more source

Missense mutation in a patient with X-linked dyskeratosis congenita

Haematologica, 2003
We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an inherited missense mutation in base 1050 (GC), changing methionine to isoleucine.
DM Kraemer, M Goebeler
doaj  

PUS7-dependent Ψ reshapes specific synaptic gene exons to facilitate fear extinction memory formation

Molecular Brain
RNA modifications serve as dynamic regulators of neural plasticity through their ability to fine-tune transcript stability and splicing. Pseudouridine (Ψ), an evolutionarily conserved RNA modification catalyzed by pseudouridine synthases, plays ...
Runming Liu, Yuhan Dong, Zhipeng Gao, Jichun Shi, Ziyue Xu, Junhui Liu, Gaomeng Luo, Shengda Ye, Feiyang Zhang, Hongyu Xu, Xiang Li, Sha Liu, Wei Wei   +12 more
doaj   +1 more source

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Molecular Genetics and Metabolism Reports, 2019
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
doaj   +1 more source

Expanding Chemical Space of Nucleic Acid Nanoparticles for Tunable Antiviral‐Like Immunomodulatory Responses and Potent Adjuvant Activity

Advanced Functional Materials, Volume 36, Issue 33, 23 April 2026.
We introduce a nucleic acid nanoparticle (NANP) platform designed to be rrecognized by the human innate immune system in a regulated manner. By changing chemical composition while maintaining constant architectural parameters, we identify key determinants of immunorecognition enabling the rational design of NANPs with tunable immune activation profiles
Martin Panigaj, Hannah S. Newton, Jian Wang, Laxmi Pandey, Yelixza I. Avilla, Phong Nguyen, Morgan Chandler, Justin Halman, Yasmine Radwan, Stephanie Smith, Elijah Edmondson, Simone Difilippantonio, Chelsea Sanders, Bao Tran, Yongmei Zhao, Shaojun Xie, Edward Cedrone, Barry W. Neun, Meni Wanunu, Nikolay V. Dokholyan, Marina A. Dobrovolskaia, Kirill A. Afonin   +21 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Structure and function of pseudouridine synthases

, 2004
Pseudouridine (the 5-ribosyl isomer of uridine) is the single most abundant post-transcriptional modification found in the stable, structured RNAs (ribosomal, transfer, small nuclear, and small nucleolar) of all organisms.
Del Campo, Mark
core   +2 more sources

Pseudouridylation of 7SK by PUS7 regulates Pol II transcription elongation

Nature Communications
Pseudouridine (Ψ) is a widespread RNA modification in various RNA species, including rRNA, tRNA, snRNA and mRNA. Ψ plays a crucial role in RNA metabolism, where it regulates pre-mRNA splicing and affects protein translation.
Yutao Zhao, Hui-Lung Sun, Wenlong Li, Chang Ye, Xiaoyang Dou, Yong Peng, Tong Wu, Pingluan Wang, Cheng-Wei Ju, Shun Liu, Yuhao Zhong, Qing Dai, Kinga Pajdzik, Chuan He   +13 more
doaj   +1 more source

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source

Improved Longan Genome Assembly Reveals Insights Into Flowering Mechanisms

Plant Biotechnology Journal, Volume 24, Issue 3, Page 1678-1696, March 2026.
ABSTRACT Longan is an exotic tropical fruit crop and exhibits off‐season flowering induced by potassium chlorate (KClO3), though the molecular mechanisms remain unclear. We assembled a high‐quality, 441.5 Mb genome of variety ‘Shixia’, with a contig N50 at 28.1 Mb, 29, 325 protein‐coding genes, 26 telomeres and 15 centromeres.
Guochun Zhao, Fan Jiang, Wenshun Hu, Jisen Zhang, Wen Wang, Siping Tu, Baiyu Wang, Qing Zhang, Jing Mei, Lianyu Lin, Yiying Qi, Xiuping Chen, Jianguo Li, Ray Ming, Shaoquan Zheng   +14 more
wiley   +1 more source