Results 81 to 90 of about 167,962 (232)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Identification of alternative splicing regulatory patterns and characteristic splicing factors in heart failure using RNA-seq data and machine learning

Heliyon
Heart failure (HF) represents the advanced stage of several cardiovascular disorders. This study aimed to build an alternative splicing regulatory network and identify potential splicing factors involved in HF utilizing RNA-seq data and machine learning ...
Jia Li, Dingyuan Tu, Songhua Li, Zhifu Guo, Xiaowei Song   +4 more
doaj   +1 more source

Alternative splicing at NAGNAG acceptors in Arabidopsis thaliana SR and SR-related protein-coding genes

BMC Genomics, 2008
Background Several recent studies indicate that alternative splicing in Arabidopsis and other plants is a common mechanism for post-transcriptional modulation of gene expression.
Backofen Rolf, Palusa Saiprasad G, Ali Gul, Hiller Michael, Szafranski Karol, Schindler Stefanie, Platzer Matthias, Reddy Anireddy SN   +7 more
doaj   +1 more source

Alternative Splicing in Angiogenesis

International Journal of Molecular Sciences, 2019
Alternative splicing of pre-mRNA allows the generation of multiple splice isoforms from a given gene, which can have distinct functions. In fact, splice isoforms can have opposing functions and there are many instances whereby a splice isoform acts as an inhibitor of canonical isoform function, thereby adding an additional layer of regulation to ...
Elizabeth Bowler, Sebastian Oltean
openaire   +3 more sources

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Splicing and alternative splicing in rice and humans [PDF]

BMB Reports, 2013
Rice is a monocot gramineous crop, and one of the mostimportant staple foods. Rice is considered a model species formost gramineous crops. Extensive research on rice hasprovided critical guidance for other crops, such as maize andwheat.
Zhiguo E, Lei Wang, Jianhua Zhou
doaj  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

A Ralstonia solanacearum Effector Targets Splicing Factor SR34a to Reprogram Alternative Splicing and Regulate Plant Immunity

Plants
Alternative splicing is a critical post-transcriptional regulatory mechanism in eukaryotes. While infection with Ralstonia solanacearum GMI1000 significantly alters plant alternative splicing patterns, the underlying molecular mechanisms remain unclear ...
Yunyun Li, Song Kou
doaj   +1 more source

Alternative Splicing Regulation of Cancer-Related Pathways in Caenorhabditis elegans: An In Vivo Model System with a Powerful Reverse Genetics Toolbox

International Journal of Cell Biology, 2013
Alternative splicing allows for the generation of protein diversity and fine-tunes gene expression. Several model systems have been used for the in vivo study of alternative splicing. Here we review the use of the nematode Caenorhabditis elegans to study
Sergio Barberán-Soler, James Matthew Ragle   +1 more
doaj   +1 more source

VIVID: A qPCR‐Based Platform for Sensitive and Quantitative In Vivo Tracking of Extracellular Vesicles

Advanced Functional Materials, EarlyView.
This study introduces VIVID (Vesicle In Vivo Identification using DNA), a qPCR‐based platform that tracks PCR‐amplifiable DNA tags loaded in the EVs for accurate and quantifiable EV biodistribution in vivo. ABSTRACT Extracellular vesicles (EVs) represent promising carriers for nucleic acid therapeutics, offering advantages over synthetic nanoparticles ...
Oscar Boyadjian, Talin Ebrahimian, Jonathan Miranda O'Connor, Janusz Rak, Stephanie Lehoux, Maryam Tabrizian   +5 more
wiley   +1 more source