Results 121 to 130 of about 409,751 (381)

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source

Nonsense of the existence and the 'sense' of the absurdity: Congenialities of Albert Camus' and Petar Sarić's creative proceeds [PDF]

Baština, 2013
The philosophy of existentialism achieved its greatest impact through Sartre's lectures Existentialism is Humanity. His philosophy, founded on the thesis on the tragic throw in the whirlpool of the existence, had great impact on the literary achievements
Jeftimijević-Mihajlović Marija
doaj  

Nonsense-Mediated RNA Decay Influences Human Embryonic Stem Cell Fate. [PDF]

, 2016
Nonsense-mediated RNA decay (NMD) is a highly conserved pathway that selectively degrades specific subsets of RNA transcripts. Here, we provide evidence that NMD regulates early human developmental cell fate.
Brafman, David, Cook-Andersen, Heidi, Dumdie, Jennifer, Goetz, Alexandra, Laurent, Louise, Liao, Xiaoyan, Lou, Chih-Hong, Mora-Castilla, Sergio, Ramaiah, Madhuvanthi, Shum, Eleen Y, Wilkinson, Miles F   +10 more
core   +3 more sources

AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Nature, 2022
Jiaming Wang, Yue Zhang, Craig A Mendonca, O. Yukselen, Khaja Muneeruddin, Lingzhi Ren, Jialing Liang, Chendong Zhou, Jun Xie, Jia Li, Zhong Jiang, Alper Kucukural, Scott A Shaffer, Guangping Gao, Dan Wang   +14 more
semanticscholar   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Nonsense-mediated RNA decay: an emerging modulator of malignancy

Nature Reviews. Cancer, 2022
Kun Tan, D. Stupack, M. Wilkinson
semanticscholar   +1 more source

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

International Journal of Molecular Sciences, 2019
The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon ...
Ananya Samanta, K. Stingl, S. Kohl, J. Ries, Joshua Linnert, K. Nagel-Wolfrum   +5 more
semanticscholar   +1 more source

LEDGF Binds H3R17me2a Promoting De Novo Nucleotide Biosynthesis in SETD2 Mutant Clear Cell Renal Cell Carcinoma

Advanced Science, EarlyView.
In SETD2‐mutant ccRCC, the original LEDGF recognition of the H3K36me3 regulatory axis no longer exists. LEDGF interacts with CARM1‐dependent H3R17me2a regulating the transcription of key enzymes in the de novo synthesis pathway. The abnormally elevated LEDGF leads to the accumulation of purine nucleotides in SETD2‐mutant ccRCC, thereby satisfying the ...
Yuwei Zhang, Yuhua Zhou, Yuezhou Zhang, Jing Lv, Yang Shen, Dong Zhang, Bo Liu, Wei Zhao, Junyi Ju, Qingyi Zhu, Ke Wang, Ninghan Feng   +11 more
wiley   +1 more source

GbSER02 Interacts With GhVOZ1 to Promote Fiber Elongation by Modulating Gibberellin Synthesis in Cotton

Advanced Science, EarlyView.
GbSER02 with a single base change (SNP517G) encodes normal serpin protein and interacts with transcription factor VOZ1 to alleviate the repression of VOZ1 on GA3ox1 and promote GA3 biosynthesis. Further, GA3 induces the expression of cell wall loosening‐related genes and decreases flavonoid content, ultimately facilitating fiber cell elongation in ...
Hao Jia, Dongmei Zhang, Qishen Gu, Yanbin Li, Jing Li, Wannian Li, Zhengwen Sun, Huifeng Ke, Jun Yang, Liqiang Wu, Yan Zhang, Zhiying Ma, Xingfen Wang   +12 more
wiley   +1 more source

You Will Oscar, You Will [PDF]

, 1991
The November 1990 Word Ways carried an article entitled The Shaming of the True by one Peter Newby - whoever he may be. His premise, supported by a series of non-anagrams, was to the effect that the film Kiss Me Kate was written by the actor whom he
Weepy, Bert N.
core   +1 more source