Results 11 to 20 of about 384,167 (334)

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +8 more sources

Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing

Nature Communications, 2022
Wiskott-Aldrich syndrome is caused by mutations in WASP, but the underlying mechanisms remain to be explored. Here the authors reveal that WASP deficiency results in aberrant RNA splicing, and that WASP regulates the transcription of splicing factor ...
Baolei Yuan, Xuan Zhou, Keiichiro Suzuki, Gerardo Ramos-Mandujano, Mengge Wang, Muhammad Tehseen, Lorena V. Cortés-Medina, James J. Moresco, Sarah Dunn, Reyna Hernandez-Benitez, Tomoaki Hishida, Na Young Kim, Manal M. Andijani, Chongwei Bi, Manching Ku, Yuta Takahashi, Jinna Xu, Jinsong Qiu, Ling Huang, Christopher Benner, Emi Aizawa, Jing Qu, Guang-Hui Liu, Zhongwei Li, Fei Yi, Yanal Ghosheh, Changwei Shao, Maxim Shokhirev, Patrizia Comoli, Francesco Frassoni, John R. Yates, Xiang-Dong Fu, Concepcion Rodriguez Esteban, Samir Hamdan, Mo Li, Juan Carlos Izpisua Belmonte   +35 more
doaj   +1 more source

Exploring RNA modifications, editing, and splicing changes in hyperuricemia and gout

Frontiers in Medicine, 2022
Hyperuricemia and gout are two of the most common metabolic disorders worldwide; their incidence is increasing with changes in lifestyle, and they are correlated with many diseases, including renal and cardiovascular diseases.
Chung-Ming Huang, Chung-Ming Huang, Chung-Ming Huang, Yu-Chia Chen, Yu-Chia Chen, Yu-Chia Chen, I-Lu Lai, I-Lu Lai, Hong-Da Chen, Po-Hao Huang, Siang-Jyun Tu, Ya-Ting Lee, Ya-Ting Lee, Ju-Chen Yen, Ju-Chen Yen, Chia-Li Lin, Chia-Li Lin, Ting-Yuan Liu, Ting-Yuan Liu, Ting-Yuan Liu, Jan-Gowth Chang, Jan-Gowth Chang   +21 more
doaj   +1 more source

Genome-wide regulation of KSHV RNA splicing by viral RNA-binding protein ORF57.

PLoS Pathogens, 2022
RNA splicing plays an essential role in the expression of eukaryotic genes. We previously showed that KSHV ORF57 is a viral splicing factor promoting viral lytic gene expression.
Vladimir Majerciak, Beatriz Alvarado-Hernandez, Alexei Lobanov, Maggie Cam, Zhi-Ming Zheng   +4 more
doaj   +1 more source

RNA helicases in splicing [PDF]

RNA Biology, 2013
In eukaryotic cells, introns are spliced from pre-mRNAs by the spliceosome. Both the composition and the structure of the spliceosome are highly dynamic, and eight DExD/H RNA helicases play essential roles in controlling conformational rearrangements. There is evidence that the various helicases are functionally and physically connected with each other
Olivier, Cordin, Jean D, Beggs
openaire   +2 more sources

Cis- and trans-regulations of pre-mRNA splicing by RNA editing enzymes influence cancer development

Nature Communications, 2020
RNA editing and RNA splicing are involved in tumorigenesis. Here the authors report crosstalk between RNA editing and splicing by identifying ADAR1/2-dependent splicing events in esophageal squamous carcinoma cells.
Sze Jing Tang, Haoqing Shen, Omer An, HuiQi Hong, Jia Li, Yangyang Song, Jian Han, Daryl Jin Tai Tay, Vanessa Hui En Ng, Fernando Bellido Molias, Ka Wai Leong, Priyankaa Pitcheshwar, Henry Yang, Leilei Chen   +13 more
doaj   +1 more source

FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.

PLoS Biology, 2023
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled in Fmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that in Fmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral
Suna Jung, Sneha Shah, Geongoo Han, Joel D Richter   +3 more
doaj   +1 more source

Molecular impact of mutations in RNA splicing factors in cancer. [PDF]

Mol Cell
Zhang Q, Ai Y, Abdel-Wahab O.
europepmc   +3 more sources

Apparent non-canonical trans-splicing is generated by reverse transcriptase in vitro [PDF]

, 2010
Trans-splicing, the in vivo joining of two RNA molecules, is well characterized in several groups of simple organisms but was long thought absent from fungi, plants and mammals.
David Tollervey, DS Rickman, E Gilboa, ES Svarovskaia, F Perocchi, GX Luo, H Li, HM Temin, J Cocquet, J Houseley, J Sambrook, Jonathan Houseley, KEM Hastings, M Geiszt, M Ouhammouch, P Kapranov, P Unneberg, RH Herai, RM Mader, S Zhu, SW Roy, T Horiuchi, Thomas Preiss, TR Gingeras, X Li, X Niu, XC Zeng   +26 more
core   +5 more sources

Intracerebral Hemorrhage and Ischemic Stroke of Different Etiologies Have Distinct Alternatively Spliced mRNA Profiles in the Blood: a Pilot RNA-seq Study. [PDF]

, 2015
Whole transcriptome studies have used 3'-biased expression microarrays to study genes regulated in the blood of stroke patients. However, alternatively spliced messenger RNA isoforms have not been investigated for ischemic stroke or intracerebral ...
Ander, Bradley P, Dykstra-Aiello, Cheryl, Ho, Carolyn, Hull, Heather, Jickling, Glen C, Liu, DaZhi, Orantia, Miles, Stamova, Boryana, Zhan, Xinhua   +8 more
core   +2 more sources