Academic Articles & Research Papers

IGF2BP1 knockdown associates with alternative splicing changes of transcription factor genes in neuroblastoma cells.

PRMT5 inhibition disrupts detained intron splicing and impairs ATR signaling with increased DNA damage.

Presplicing factors associate with UpA-rich RNA and limit flavivirus replication.

Changes in Alternative Splicing are Associated with Insecticide Response and Resistance.

Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy.

Genetics of MDS

Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related myeloid disorders has been dramatically improved during the past decade, in which revolutionized sequencing technologies have played a major role. Through inten...

Modernizing GNSS data acquisition, pre-processing, and distribution at volcanological observatories

In recent years, the field of geodetic monitoring is undergoing a profound transformation driven by the transition from GPS-only positioning to a fully multi-GNSS environment. With Galileo, BeiDou, and modernized GPS & GLONASS constella...

Sexual Dimorphism in Growth Rate and Gene Expression Throughout Immature Development in Wild Type Chrysomya rufifacies (Diptera: Calliphoridae) Macquart

Reliability of forensic entomology analyses to produce relevant information to a given case requires an understanding of the underlying arthropod population(s) of interest and the factors contributing to variability. Common traits for analy...

HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

Abstract We present Hierarchical Bayesian Analysis of Differential Expression and ALternative Splicing (HBA-DEALS), which simultaneously characterizes differential expression and splicing in cohorts. HBA-DEALS attains state of the art or be...

Cracking rare disorders: a new minimally invasive RNA-seq protocol

Abstract RNA sequencing (RNA-seq) has become key to complementing exome and genome sequencing for variant interpretation. We present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs) ...

Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by accumulation of fragmented insoluble TDP-43 and loss of TDP-43 from the nucleus. Increased expression of exogenous TARDBP (encoding TDP-43) induces TDP-43 p...

TDP-43-related cryptic splicing reflects pathological heterogeneity in amyotrophic lateral sclerosis.

RNA biology of disease-associated microsatellite repeat expansions

Abstract Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurolog...

UTRme: A Scoring-Based Tool to Annotate Untranslated Regions in Trypanosomatid Genomes

Most signals involved in post-transcriptional regulatory networks are located in the untranslated regions (UTRs) of the mRNAs. Therefore, to deepen our understanding of gene expression regulation, delimitation of these regions with high acc...

MMSplice: modular modeling improves the predictions of genetic variant effects on splicing

Abstract Predicting the effects of genetic variants on splicing is highly relevant for human genetics. We describe the framework MMSplice (modular modeling of splicing) with which we built the winning model of the CAGI5 exon skipping predic...