Results 121 to 130 of about 838,175 (338)

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons [PDF]

, 2014
Alternative splicing—the production of multiple messenger RNA isoforms from a single gene—is regulated in part by RNA binding proteins. While the RBPs transformer2 alpha (Tra2α) and Tra2β have both been implicated in the regulation of alternative ...
Austin, Caroline A., Best, Andrew, Chabot, Benoit, Cheong Lee, Ka, Cowell, Ian G., Curk, Tomaz, Dalgliesh, Caroline, Danilenko, Marina, Elliott, David J., Hong, Elaine, Hussain, Rafiq, James, Katherine, Keavney, Bernard, Kheirolahi-Kouhestani, Mahsa, Klinck, Roscoe, Santibanez Koref, Mauro, Tyson-Capper, Alison, Venables, Julian P., Wipat, Anil, Xu, Yaobo   +19 more
core   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Single Nucleotide Polymorphisms: A Deep Consideration of Protein Sequence Variation [PDF]

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd
Introduction: Human genome consists of the three billion base pairs that has about one percent of genetic variation from one person to another، which determines physical، psychological، and susceptibility to diseases. Among the types of genetic diversity,
Majid Marzban Sarnaghi, Deniz Farzad, Reza Gholikhani Darbroud, Zafar Gholinejad   +3 more
doaj  

Preliminary In Silico Evaluation of Potential Therapeutics for Non-Alcoholic Steatohepatitis (NASH) using Molecular Docking and Pharmacokinetics Analysis

Exon
Non‑alcoholic steatohepatitis (NASH) is a progressive inflammatory liver disease arising from non‑alcoholic fatty liver disease (NAFLD) and is increasingly prevalent due to rising obesity, insulin resistance, and sedentary lifestyle.
Sudarsna B, Gokulkrishnan A
doaj   +1 more source

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

Cultivation of Oyster Mushroom by using Two Different Substrates in Laboratory Condition

Exon
Mushrooms, a species of fungi, are cultivated worldwide using agricultural waste as a substrate due to their high lignin and cellulose content. This sustainable practice not only repurposes agricultural waste for mushroom production but also converts ...
Sneha Dwivedi, Balwant Singh, Alok Kumar Singh, Vinay Kumar Singh   +3 more
doaj   +1 more source

Intra- and Interspecies Analyses of the Carcinoembryonic Antigen (CEA) Gene Family Reveal Independent Evolution in Primates and Rodents [PDF]

, 1989
Various rodent and primate DNAs exhibit a stronger intra- than interspecies cross-hybridization with probes derived from the N-terminal domain exons of human and rat carcinoembryonic antigen (CEA)-like genes.
Rudert, Fritz, Thompson, John A., Zimmermann, Wolfgang   +2 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Polymer-Based Nanoparticles as Efficient Non-Viral Vectors for Gene Delivery in CAR-T Cell Therapy

Exon
Chimeric Antigen Receptor (CAR)-T cell therapy has emerged as a revolutionary method in cancer immunotherapy, achieving notable success in treating hematological malignancies.
Debtosh Patra
doaj   +1 more source

EGFR Exon 18 Mutations in Lung Cancer: Molecular Predictors of Augmented Sensitivity to Afatinib or Neratinib as Compared with First- or Third-Generation TKIs

Clinical Cancer Research, 2015
Purpose: Lung cancers harboring common EGFR mutations respond to EGFR tyrosine kinase inhibitors (TKI), whereas exon 20 insertions (Ins20) are resistant to them. However, little is known about mutations in exon 18.
Yoshihisa Kobayashi, Y. Togashi, Y. Yatabe, H. Mizuuchi, Park Jangchul, C. Kondo, M. Shimoji, Katsuaki Sato, K. Suda, K. Tomizawa, T. Takemoto, T. Hida, K. Nishio, T. Mitsudomi   +13 more
semanticscholar   +1 more source