Results 141 to 150 of about 270,676 (398)

Inhibition of vemurafenib-resistant melanoma by interference with pre-mRNA splicing

Nature Communications, 2015
Mutations in the serine/threonine kinase BRAF are found in more than 60% of melanomas. The most prevalent melanoma mutation is BRAF(V600E), which constitutively activates downstream MAPK signalling.
M. Salton, W. Kasprzak, T. Voss, B. Shapiro, Poulikos I. Poulikakos, T. Misteli   +5 more
semanticscholar   +1 more source

piR‐RCC Suppresses Renal Cell Carcinoma Progression by Facilitating YBX‐1 Cytoplasm Localization

Advanced Science, EarlyView.
PIWI‐interacting RNAs (piRNAs), a novel category of small non‐coding RNAs, have been implicated in the development of various diseases. This study explores the tumor‐suppressive mechanism of a downregulated piRNA (designated piR‐RCC) in renal cell carcinoma (RCC), and provides a delivery strategy targeting RCC tumor by constructing a cell membrane ...
Ruyue Wang, Fan Li, Yudong Lin, Zeyi Lu, Wenqin Luo, Zhehao Xu, Ziwei Zhu, Yi Lu, Xudong Mao, Yang Li, Zhinian Shen, Haohua Lu, Yining Chen, Liqun Xia, Mingchao Wang, Lifeng Ding, Gonghui Li   +16 more
wiley   +1 more source

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Journal of Lipid Research, 2003
Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G>C in intron 2 (IVS2 +5G>C) and ii) c.844 C>T in exon 9 (R282X).
Serena Altilia, Livia Pisciotta, Rita Garuti, Patrizia Tarugi, Alfredo Cantafora, Laura Calabresi, Jacopo Tagliabue, Sergio Maccari, Franco Bernini, Ilaria Zanotti, Carlo Vergani, Stefano Bertolini, Sebastiano Calandra   +12 more
doaj  

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

Frontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Wencong Guo, Shufang Luan, Leping Shao, Leping Shao   +14 more
doaj   +1 more source

Ultra-deep sequencing reveals pre-mRNA splicing as a sequence driven high-fidelity process.

PLoS ONE, 2019
Alternative splicing diversifies mRNA transcripts in human cells. While the spliceosome pairs exons with a high degree of accuracy, the rates of rare aberrant and non-canonical pre-mRNA splicing have not been evaluated at the nucleotide level to ...
Derrick J Reynolds, Klemens J Hertel
doaj   +1 more source

Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. [PDF]

, 2015
RNA-seq has become a popular technology for studying genetic variation of pre-mRNA alternative splicing. Commonly used RNA-seq aligners rely on the consensus splice site dinucleotide motifs to map reads across splice junctions.
Bahrami-Samani, Emad, Lu, Zhi-Xiang, Park, Juw Won, Stein, Shayna, Xing, Yi   +4 more
core   +2 more sources

H3K36me3‐Guided m6A Modification of Oncogenic L1CAM‐AS1 Drives Macrophage Polarization and Immunotherapy Resistance in Hepatocellular Carcinoma

Advanced Science, EarlyView.
L1CAM‐AS1 is identified as a novel H3K36me3‐guided, m6A‐modified long noncoding RNA (lncRNA) in hepatocellular carcinoma (HCC) cells. L1CAM‐AS1 stabilizes RAN protein, enhances M2 macrophages‐released CCL5‐induced nuclear import of RELA, activates the NF‐κB signaling, up‐regulates CCL2 expression and secretion from HCC cells, and enhances M2 ...
Teng Wang, Linyu Han, Yanfei Huo, Long Zhang, Yizhou Huang, Nasha Zhang, Ming Yang   +6 more
wiley   +1 more source

CircTP53/USP10/p53 signaling Axis as a Novel Regulator of Progression and Prognosis of Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
The study identifies a novel circular RNA derived from the TP53 gene (circTP53), which is upregulated in HNSCC and correlates with poor patient prognosis. It demonstrates that circTP53 promotes HNSCC progression by interacting with USP10, stabilizing both proteins, enhancing deubiquitination of p53, and thereby influencing tumor growth, with its ...
Yin Wang, Fen Chang, Zinan Li, Chengcheng Duan, Xiangkai Sun, Siyu Wang, Dongmin Wei, Wenming Li, Ye Qian, Shengda Cao, Juan Zhao, Dapeng Lei   +11 more
wiley   +1 more source

Advances in Single‐Cell Sequencing for Infectious Diseases: Progress and Perspectives

Advanced Science, EarlyView.
Single‐cell sequencing technologies uncover novel, unknown, and emergent features of many diseases. This review describes recent progress of single‐cell sequencing technologies and their applications in infectious diseases, summarizes the underlying commonalities of different infections and discusses future research directions, facilitating the ...
Mengyuan Lyu, Yang Liu, Jian Zhou, Hongli Lai, Hongxia Ruan, Dongsheng Wu, Shun Zhu, Xudong Zhou, Wananqi Ma, Yuchen Huang, Shuting Lei, Han Luo, Jie Chen, Binwu Ying   +13 more
wiley   +1 more source

Histone H3K4 trimethylation: dynamic interplay with pre-mRNA splicing.

Biochemistry and cell biology = Biochimie et biologie cellulaire, 2016
Histone H3 lysine 4 trimethylation (H3K4me3) is often stated as a mark of transcriptionally active promoters. However, closer study of the positioning of H3K4me3 shows the mark locating primarily after the first exon at the 5' splice site and overlapping
J. Davie, Wayne W. Xu, G. Delcuve
semanticscholar   +1 more source