Results 231 to 240 of about 6,768,037 (271)

PMAVP: A Mamba-Inspired Deep Learning Framework for Antiviral Peptide Identification and Functional Activity Prediction. [PDF]

Int J Mol Sci
Wei P, Su W, Qin Q, Wei C, Shi Y, Zhang G.   +5 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Gene model for the ortholog of <i>dib</i> in <i>Drosophila cardini</i>. [PDF]

MicroPubl Biol
Brooks P, Chialvo P, Scott Chialvo C.
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Desiccation to DNA: Bulk DNA Metabarcoding of Macroinvertebrate Egg Banks via Sugar-Flotation Enhances Biodiversity Surveys of Dry Salt Lakes. [PDF]

Ecol Evol
Lawrie AD, Dethlefsen P, Rahman M, Hofmeester C, Delaney J, Campbell MA, Newton JP, de Oliveira ME, Huey J, Allentoft ME, Saccò M.   +10 more
europepmc   +1 more source

De novo promoters emerge more readily from random DNA than from genomic DNA. [PDF]

Sci Adv
Fuqua T, Wagner A.
europepmc   +1 more source

Machine Learning-Based Comparison of Non-Contrast ASL and DSC-MRI Perfusion for Differentiating Recurrent High-Grade Glioma from Treatment Effects. [PDF]

J Clin Med
Erol S, Özer H, Batur A, Durmaz MS, Kılınçer A, Uysal E, Cebeci H.   +6 more
europepmc   +1 more source

Does randomization matter in rare disease clinical trials. [PDF]

PLoS One
Wied S, Razsolkov DK, Heussen N, Hilgers RD.   +3 more
europepmc   +1 more source