Results 141 to 150 of about 159,772 (339)

A Unique Chimeric RNA: ERCC1‐iASPP Drives Benzo[a]pyrene‐Induced Lung Carcinogenesis via Dual Coding and Non‐Coding Mechanisms

Advanced Science, EarlyView.
The chimeric RNA ERCC1‐iASPP possesses dual coding and non‐coding functions, synergistically accelerating the process of cellular malignant transformation. Abstract Genetic variation at 19q13.3 critically modulates chemical carcinogen‐induced lung carcinogenesis, particularly in mediating the activity of benzo[a]pyrene (B[a]P), a major polycyclic ...
Mingming Shan, Mingyang Xiao, Liang Zhang, Shen Wang, Jiahang Wu, Kang Cao, Yujin Li, Guopei Zhang, Junwei Xie, Xiaobo Lu   +9 more
wiley   +1 more source

Alternative Splicing and Polyadenylation Contribute to the Generation of hERG1 C-terminal Isoforms

, 2010
The human ether-a-go-go-related gene 1 (hERG1) encodes the pore-forming subunit of the rapidly activating delayed rectifier potassium channel. Several hERG1 isoforms with different N- and C-terminal ends have been identified.
Gong, Qiuming, Stump, Matthew R., Dunn, A. Russell, Deng, Vivianne, Zhou, Zhengfeng   +4 more
core  

A novel splice site mutation c.2278 (−1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia [PDF]

, 2009
Eunice Sindhuvi Edison, Rekha Athiyarath, Rajasekar Thirugnanam, Mark Westerman, Alok Srivastava, Mammen Chandy   +5 more
openalex   +1 more source

Atypical splice-site mutations causing VEXAS syndrome

Rheumatology, 2021
Marie Templé, Eugénie Duroyon, Carolyne Croizier, Julien Rossignol, Thomas Huet, Chloé Friedrich, Loria Zalmai, Pascal Priollet, Gilles Hayem, Olivier Tournillhac, Guillaume Le Guenno, Olivier Hermine, Benjamin Terrier, Olivier Kosmider   +13 more
openaire   +1 more source

Epstein‐Barr Virus Expressed Long Non‐Coding RNA (lncBARTs) Regulate EBV Latent Genome Replication

Advanced Science, EarlyView.
EBV produces abundant level of lncBARTs, which are essential for maintaining viral genome replication in EBV‐associated cancers. LncBARTs interact with a complex comprising BRD4, CTCF and viral protein EBNA1 at EBV oriP region. This interaction tethers oriP to host chromosomes, facilitating EBV episome replication.
Jiayan Liu, Dittman Lai‐Shun Chung, Larry Ka‐Yue Chow, Shuo Han, Wenkai Yi, Conor J. Cremin, Yingyin Liao, Pui Wang, Bobo Wing‐Yee Mok, Mingfang Ji, Jian Yan, Wei Dai, Honglin Chen   +12 more
wiley   +1 more source

Ribosome Homeostasis Regulated by SETD2 Preserves Intestinal Epithelial Barrier

Advanced Science, EarlyView.
SETD2 ablation causes dysregulation and recruitment defects of ribosome biogenesis factors, resulting in translational disorders of barrier maintenance genes, thereby compromising the intestinal barrier. These findings unveil a previously unappreciated role of ribosome biogenesis and translational regulation in preserving the intestinal epithelial ...
Hanyu Rao, Aiting Wang, Yue Xu, Wenxin Feng, Chunxiao Ma, Ziyi Wang, Wei Zhang, Wenqiong Su, Xiuying Xiao, Wei‐Qiang Gao, Xianting Ding, Li Li   +11 more
wiley   +1 more source

Characterization of cardiac involvement in patients with LMNA splice-site mutation-related dilated cardiomyopathy and sudden cardiac death. [PDF]

Front Genet, 2023
Ling X, Hou Y, Jia X, Lan Y, Wu X, Wu J, Jie W, Liu H, Huang S, Wan Z, Li T, Guo J, Liang T.   +12 more
europepmc   +1 more source

BG05 Artificial intelligence prediction of splice site mutation consequences in junctional epidermolysis bullosa: signposts to severity [PDF]

, 2023
David Wen, Dario Leonardo Balacco, Manrup Hunjan, Ajoy Bardhan, Natasha Harper, Malobi Ogboli, Linda Ozoemena, Lu Liu, Iain Chapple, Adrian Heagerty   +9 more
openalex   +1 more source

HPD is an m6A Methyltransferase that Protects Colorectal Cancer Cells from Ferroptotic Cell Death by m6A Methylating SLC7A11/GPX4

Advanced Science, EarlyView.
This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang, Xintong Dai, Huanle Liu, Saiwei Hua, Hongkai Chang, Huanran Sun, Mingming Sun, Huifang Zhao, Kemin Ni, Fei Xie, Yaya Qiao, Qingle Gao, Chenxi Yu, Qijun Zhang, Jianshuang Guo, Chunze Zhang, Shuai Zhang, Changliang Shan   +17 more
wiley   +1 more source

Characterization of a Splice-Site Mutation in the Gene for the LDL Receptor Associated With an Unpredictably Severe Clinical Phenotype in English Patients With Heterozygous FH [PDF]

, 1995
Xi-Ming Sun, D. Patel, Deepak Bhatnagar, Brian L. Knight, Anne K. Soutar   +4 more
openalex   +1 more source