Development of Engineered-U1 snRNA Therapies: Current Status [PDF]
, 2023 Mariana Gonçalves +4 more
openalex +1 more source
Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD
Advanced Science, EarlyView.Integrating bulk and single‐nucleus RNA‐seq from ALS and FTD patients, we revealed distinct cellular dysfunctions, with severe oligodendrocyte damage in ALS and pronounced neuron loss in FTD. We identified cell‐type‐specific aberrant splicing events as potential biomarkers with robust classification performance, some of which produce de novo peptides ...
Chen Du +6 more
wiley +1 more source
Single-nucleus RNA sequencing identifies a novel tenogenic heterologous differentiation in endometrial carcinosarcomas: implications for diagnosis and tumor classification. [PDF]
J PatholAbstract Carcinosarcomas (CSs) are aggressive biphasic tumors characterized by epithelial and mesenchymal components, whose histogenesis and differentiation dynamics remain poorly understood. We present single‐nucleus RNA sequencing (snRNA‐seq) analysis of six CSs (five endometrial and one ovarian) and two normal endometrial samples, profiling over 96 ...
González-Martínez S +9 more
europepmc +2 more sources
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]
, 2016 Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene +7 more
core +2 more sources
S3RL: Enhancing Spatial Single‐Cell Transcriptomics With Separable Representation Learning
Advanced Science, EarlyView.Separable Spatial Representation Learning (S3RL) is introduced to enhance the reconstruction of spatial transcriptomic landscapes by disentangling spatial structure and gene expression semantics. By integrating multimodal inputs with graph‐based representation learning and hyperspherical prototype modeling, S3RL enables high‐fidelity spatial domain ...
Laiyi Fu +6 more
wiley +1 more source
Further analysis of barley MORC1 using a highly efficient RNA-guided Cas9 gene-editing system [PDF]
, 2018 Summary Microrchidia (MORC) proteins comprise a family of proteins that have been identified in prokaryotes and eukaryotes. They are defined by two hallmark domains: a GHKL-type ATPase and an S5-fold.
Galli, Matteo +5 more
core +1 more source
The TOR signaling pathway regulates starvation-induced pseudouridylation of yeast U2 snRNA
RNA: A publication of the RNA Society, 2016 Pseudouridine (Ψ) has been identified in various types of RNAs, including mRNA, rRNA, tRNA, snRNA, and many other noncoding RNAs. We have previously shown that RNA pseudouridylation, like DNA and protein modifications, can be induced by stress.
Guowei Wu +5 more
semanticscholar +1 more source
Comparative Single‐Cell Transcriptomic Atlas Reveals the Genetic Regulation of Reproductive Traits
Advanced Science, EarlyView.A cross‐species single‐cell transcriptomic atlas of reproductive and central nervous system tissues from sheep and humans reveals conserved cellular programs and regulatory networks that regulated fertility. Integration with GWAS for sheep lifetime average litter size identifies UNC5–SLIT–BMP signaling as a core pathway coordinating neuroendocrine ...
Bingru Zhao +8 more
wiley +1 more source
Data used in ECLIPSER methods paper and GTEx snRNA-seq cross-tissue reference map analysis
, 2021 John M. Rouhana +9 more
openalex +4 more sources
iScienceSummary: Single cell sequencing technologies have revolutionized our understanding of biology by mapping cell diversity and gene expression in healthy and diseased tissues.
Briana Santo +8 more
doaj +1 more source