Results 221 to 230 of about 2,110,017 (419)

RNA editing in trans-splicing intron sequences of nad2 mRNAs in Oenothera mitochondria.

, 1992
Stefan Binder, Anita Marchfelder, Axel Brennicke, Bernd Wissinger   +3 more
openalex   +1 more source

Increased RNA Editing May Provide a Source for Autoantigens in Systemic Lupus Erythematosus

Cell Reports, 2018
Summary: RNA-editing mechanisms, which induce nucleotide substitution in the RNA, increase transcript and protein diversities. Editing dysregulation has been shown to lead to grave outcomes, and transcriptome-wide aberrant RNA editing has been found in ...
Shalom Hillel Roth, Miri Danan-Gotthold, Meirav Ben-Izhak, Gideon Rechavi, Cyrille J. Cohen, Yoram Louzoun, Erez Y. Levanon   +6 more
doaj  

DeepFM-Crispr: Prediction of CRISPR On-Target Effects via Deep Learning [PDF]

arXiv
Since the advent of CRISPR-Cas9, a groundbreaking gene-editing technology that enables precise genomic modifications via a short RNA guide sequence, there has been a marked increase in the accessibility and application of this technology across various fields.
arxiv  

Dynamic landscape and regulation of RNA editing in mammals

Nature, 2017
M. Tan, Qin Li, Raghuvaran Shanmugam, Robert Piskol, J. Kohler, Amy N. Young, K. I. Liu, Rui Zhang, Gokul Ramaswami, Kentaro Ariyoshi, Ankita Gupte, L. Keegan, C. George, Avinash Ramu, N. Huang, E. Pollina, Dena S. Leeman, A. Rustighi, Y. P. S. Goh, A. Chawla, G. Sal, G. Peltz, A. Brunet, D. Conrad, C. E. Samuel, M. O’Connell, Carl R Walkley, K. Nishikura, J. B. Li   +28 more
semanticscholar   +1 more source

INTERPLAY BETWEEN RNA EDITING AND ALTERNATIVE SPLICING MODULATES BIOPHYSICAL AND PHARMACOLOGICAL PROPERTIES OF THE ION CHANNEL CAV1.3 [PDF]

Alternative splicing and adenosine-to-inosine (A-to-I) RNA editing are post-transcriptional mechanisms that promote proteomic diversity in the brain. The impact of RNA editing on brain physiology is underscored by its association with the etiology and ...
Munyao, Willy
core   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Evolution of RNA editing in trypanosome mitochondria [PDF]

, 2000
Larry Simpson, Otávio Henrique Thiemann, Nicholas J. Savill, Juan Alfonzo, Dmitri Maslov   +4 more
openalex   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

RNA Editing of the DrosophilaparaNa+ Channel Transcript: Evolutionary Conservation and Developmental Regulation [PDF]

, 2000
Christopher J. Hanrahan, Michael J. Palladino, Barry Ganetzky, Robert A. Reenan   +3 more
openalex   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source