Results 61 to 70 of about 325,490 (342)
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Human GenomicsBackground TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno +9 more
doaj +1 more source
LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay
Molecular Genetics & Genomic Medicine, 2021 Background Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogenicity of most of these variants has
Xiaoyuan Wang +5 more
doaj +1 more source
Functional Splicing Network Reveals Extensive Regulatory Potential of the Core Spliceosomal Machinery [PDF]
MolCell. 2015 Jan 8;57(1):7-22, 2014 Pre-mRNA splicing relies on the poorly understood dynamic interplay between >150 protein components of the spliceosome. The steps at which splicing can be regulated remain largely unknown. We systematically analyzed the effect of knocking down the components of the splicing machinery on alternative splicing events relevant for cell proliferation and ...
arxiv +1 more source
Molecular Oncology, EarlyView.The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld +7 more
wiley +1 more source
High-Risk Human Papillomavirus Oncogenic E6/E7 mRNAs Splicing Regulation
Frontiers in Cellular and Infection Microbiology, 2022 High-risk human papillomavirus infection may develop into a persistent infection that is highly related to the progression of various cancers, including cervical cancer and head and neck squamous cell carcinomas.
Yunji Zheng +3 more
doaj +1 more source
GreatSplicing: A Semantically Rich Splicing Dataset [PDF]
arXiv, 2023 In existing splicing forgery datasets, the insufficient semantic varieties of spliced regions cause a problem that trained detection models overfit semantic features rather than splicing traces. Meanwhile, because of the absence of a reasonable dataset, different detection methods proposed cannot reach a consensus on experimental settings.
arxiv
, 2014 In the past several years, the relationship between chromatin structure and mRNA processing has been the source of significant investigation across diverse disciplines. Central to these efforts was an unanticipated nonrandom distribution of chromatin marks across transcribed regions of protein-coding genes.
Nazmul Haque, Shalini Oberdoerffer
openaire +4 more sources
Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM
Molecular Oncology, EarlyView.CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak +14 more
wiley +1 more source
Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma
Molecular Oncology, EarlyView.This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu +15 more
wiley +1 more source
Latent rank change detection for analysis of splice-junction microarrays with nonlinear effects [PDF]
Annals of Applied Statistics 2011, Vol. 5, No. 1, 364-380, 2011 Alternative splicing of gene transcripts greatly expands the functional capacity of the genome, and certain splice isoforms may indicate specific disease states such as cancer. Splice junction microarrays interrogate thousands of splice junctions, but data analysis is difficult and error prone because of the increased complexity compared to ...
arxiv +1 more source