Results 241 to 250 of about 15,140,513 (376)

Associating cancer-related RNA structure disrupting SNPs in LincRNAs to function. [PDF]

open access: yesBMC Genomics
Han X   +6 more
europepmc   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen   +18 more
wiley   +1 more source

RNA G-quadruplex structure-based PROTACs for targeted DHX36 protein degradation and gene activity modulation in mammalian cells [PDF]

open access: gold
Kun Zhang   +11 more
openalex   +1 more source

RNA structure modulates Cas13 activity and enables mismatch detection. [PDF]

open access: yesNat Biotechnol
Larsen BB   +16 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

A Hitchhiker's guide to RNA-RNA structure and interaction prediction tools. [PDF]

open access: yesBrief Bioinform, 2023
Tieng FYF   +5 more
europepmc   +1 more source

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