Results 161 to 170 of about 106,307 (216)

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

RNPS1 in PSAP complex controls periodic pre-mRNA splicing over the cell cycle. [PDF]

open access: yesiScience
Fukumura K   +6 more
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

open access: yesNeuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji   +4 more
wiley   +1 more source

RNA‐binding protein RBMS1: A new target for cancer diagnosis and treatment

open access: yesPrecision Medical Sciences, EarlyView.
This schematic illustrates the diverse regulatory roles of RNA‐binding motif single‐stranded interacting protein 1 (RBMS1) across multiple human cancers. In breast cancer, RBMS1 stabilizes B4GALT1 mRNA to promote PD‐L1 glycosylation, modulating tumor immune escape and immunotherapy efficacy.
Xingda Run   +7 more
wiley   +1 more source

Transcriptomic resources and functional validation of RNAi in the cabbage seedpod weevil, Ceutorhynchus obstrictus

open access: yesPest Management Science, EarlyView.
Transcriptome sequencing of Ceutorhynchus obstrictus revealed RNA interference (RNAi) targets; double‐stranded RNA microinjection reduced transcript levels and increased mortality, with αCOP and Rop showing strongest lethal effects, indicating promising RNAi‐based pest control candidates.
Apurva Vikas Sabnis   +8 more
wiley   +1 more source

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