Molecular Profiling of FIX (FACTOR 9) Gene of Hemophilia B in Karnataka
BLDE University Journal of Health Sciences, 2020 Introduction: Haemophilia is one of the “Bleeder Disorder” that causes abnormal bleeding or poor blood clotting. It occurs due to the defect in the clotting factors even in their functions and in some cases structures are altered.
Sujayendra Kulkarni +6 more
doaj +1 more source
Gene Architecture Facilitates Intron-Mediated Enhancement of Transcription
Frontiers in Molecular Biosciences, 2021 Introns impact several vital aspects of eukaryotic organisms like proteomic plasticity, genomic stability, stress response and gene expression. A role for introns in the regulation of gene expression at the level of transcription has been known for more ...
Katherine Dwyer +3 more
doaj +1 more source
A Bidirectional LSTM-RNN and GRU Method to Exon Prediction Using Splice-Site Mapping
Applied Sciences, 2022 Deep Learning techniques (DL) significantly improved the accuracy of predictions and classifications of deoxyribonucleic acid (DNA). On the other hand, identifying and predicting splice sites in eukaryotes is difficult due to many erroneous discoveries ...
Peren Jerfi CANATALAY, Osman Nuri Ucan
doaj +1 more source
EXFI: Exon and splice graph prediction without a reference genome
Ecology and Evolution, 2020 For population genetic studies in nonmodel organisms, it is important to use every single source of genomic information. This paper presents EXFI, a Python pipeline that predicts the splice graph and exon sequences using an assembled transcriptome and ...
Jorge Langa +2 more
doaj +1 more source
Frontiers in Neurology, 2020 Genome-wide association studies have identified putative ischemic stroke risk genes, yet, their expression after stroke is unexplored in spite of growing interest in elucidating their specific role and identifying candidate genes for stroke treatment ...
Cheryl Dykstra-Aiello +11 more
doaj +1 more source
Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]
, 2019 Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian +6 more
core +1 more source
Exon Skipping Is Correlated with Exon Circularization
Journal of Molecular Biology, 2015 Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Kelly, S +3 more
openaire +4 more sources
Complex exon-intron marking by histone modifications is not determined solely by nucleosome distribution [PDF]
, 2010 It has recently been shown that nucleosome distribution, histone modifications and RNA polymerase II (Pol II) occupancy show preferential association with exons (“exon-intron marking”), linking chromatin structure and function to co-transcriptional ...
A Barski +66 more
core +9 more sources
Prevalent use and evolution of exonic regulatory sequences in the human genome
Natural Sciences, 2023 It has long been known that exons can serve as cis‐regulatory sequences, such as enhancers. However, the prevalence of such dual‐use of exons and how they evolve remain elusive.
Jing Chen +5 more
doaj +1 more source
Molecular determinants of drug-specific sensitivity for epidermal growth factor receptor (EGFR) exon 19 and 20 mutants in non-small cell lung cancer. [PDF]
, 2015 We hypothesized that aberrations activating epidermal growth factor receptor (EGFR) via dimerization would be more sensitive to anti-dimerization agents (e.g., cetuximab).
Bazhenova, Lyudmila +6 more
core +3 more sources