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of 158
pro vyhledávání: ''
Autor:
Christy L. Rhine, Christopher Neil, Jing Wang, Samantha Maguire, Luke Buerer, Mitchell Salomon, Ijeoma C. Meremikwu, Juliana Kim, Natasha T. Strande, William G. Fairbrother
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 18, Iss 1 (2022)
PLoS Genetics, Vol 18, Iss 1, p e1009884 (2022)
PLoS Genetics, Vol 18, Iss 1 (2022)
PLoS Genetics, Vol 18, Iss 1, p e1009884 (2022)
To determine the contribution of defective splicing in Autism Spectrum Disorders (ASD), the most common neurodevelopmental disorder, a high throughput Massively Parallel Splicing Assay (MaPSY) was employed and identified 42 exonic splicing mutants ou
Autor:
Christopher J. Fields, Lu Li, Nicholas M. Hiers, Tianqi Li, Peike Sheng, Taha Huda, Jixiu Shan, Lauren Gay, Tongjun Gu, Jiang Bian, Michael S. Kilberg, Rolf Renne, Mingyi Xie
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 12, p e1009934 (2021)
PLoS Genetics, Vol 17, Iss 12, p e1009934 (2021)
MicroRNAs (miRNA) are short non-coding RNAs widely implicated in gene regulation. Most metazoan miRNAs utilize the RNase III enzymes Drosha and Dicer for biogenesis. One notable exception is the RNA polymerase II transcription start sites (TSS) miRNA
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 12, p e1009711 (2021)
PLoS Genetics, Vol 17, Iss 12, p e1009711 (2021)
Polycystic kidney disease is an inherited degenerative disease in which the uriniferous tubules are replaced by expanding fluid-filled cysts that ultimately destroy organ function. Autosomal dominant polycystic kidney disease (ADPKD) is the most comm
Autor:
Brittany E. Jewell, An Xu, Dandan Zhu, Mo-Fan Huang, Linchao Lu, Mo Liu, Erica L. Underwood, Jun Hyoung Park, Huihui Fan, Julian A. Gingold, Ruoji Zhou, Jian Tu, Zijun Huo, Ying Liu, Weidong Jin, Yi-Hung Chen, Yitian Xu, Shu-Hsia Chen, Nino Rainusso, Nathaniel K. Berg, Danielle A. Bazer, Christopher Vellano, Philip Jones, Holger K. Eltzschig, Zhongming Zhao, Benny Abraham Kaipparettu, Ruiying Zhao, Lisa L. Wang, Dung-Fang Lee
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 12, p e1009971 (2021)
PLoS Genetics, Vol 17, Iss 12, p e1009971 (2021)
Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 patho
Autor:
Wuguo Deng, Han Yang, Dingbo Shi, Marc R. Gartenberg, Miao Chen, Changlin Zhang, Melinda S. Borrie, Qian Long, Haohui Sun
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 11, p e1009899 (2021)
PLoS Genetics, Vol 17, Iss 11, p e1009899 (2021)
The robust proliferation of cancer cells requires vastly elevated levels of protein synthesis, which relies on a steady supply of aminoacylated tRNAs. Delivery of tRNAs to the cytoplasm is a highly regulated process, but the machinery for tRNA nuclea
Autor:
Shweta Tiwary, Tshering D. Lama-Sherpa, Delong Meng, Shihai Zhang, Jenna L. Jewell, Nicholas G. James, Mi Hyeon Jeong, Chase H. Melick, Adna Curukovic, Huanyu Wang, Kelly A. Servage
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 10, p e1009832 (2021)
PLoS Genetics, Vol 17, Iss 10, p e1009832 (2021)
The mammalian target of rapamycin complex 1 (mTORC1) senses multiple stimuli to regulate anabolic and catabolic processes. mTORC1 is typically hyperactivated in multiple human diseases such as cancer and type 2 diabetes. Extensive research has focuse
Autor:
Louise N. Reynard, Alexander D. Clark, Arthur G. Pratt, Richard Howey, Najib Naamane, Heather J. Cordell
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 9, p e1009811 (2021)
PLoS Genetics, Vol 17, Iss 9, p e1009811 (2021)
Bayesian networks can be used to identify possible causal relationships between variables based on their conditional dependencies and independencies, which can be particularly useful in complex biological scenarios with many measured variables. Here
Autor:
Surapong Koonpaew, Gino Laberge, Thomas Sonea, Gwenaëlle Gavory, Marc Therrien, Gawa Bidla, Caroline Baril, Guy Sauvageau
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 8, p e1009730 (2021)
PLoS Genetics, Vol 17, Iss 8, p e1009730 (2021)
Acute myeloid leukemia (AML) underlies the uncontrolled accumulation of immature myeloid blasts. Several cytogenetic abnormalities have been associated with AML. Among these is the NUP98-HOXA9 (NA9) translocation that fuses the Phe-Gly repeats of nuc
Autor:
Jonathan Flint, Patrick B. Chen
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 7, p e1009692 (2021)
PLoS Genetics, Vol 17, Iss 7, p e1009692 (2021)
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 17, Iss 7, p e1009675 (2021)
PLoS Genetics, Vol 17, Iss 7, p e1009675 (2021)
Emerging evidence indicates that tRNA-derived small RNAs (tsRNAs) are involved in fine-tuning gene expression and become dysregulated in various cancers. We recently showed that the 22nt LeuCAG3´tsRNA from the 3´ end of tRNALeu is required for effi