Results 21 to 30 of about 838,175 (338)
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
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
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
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
Cell, 1991 Using a sensitive assay for RNA expression, we identified several abnormally spliced transcripts in which exons from a candidate tumor suppressor gene (DCC) were scrambled during the splicing process in vivo. Cloning and sequencing of PCR-amplified segments of the abnormally spliced transcripts showed that exons were joined accurately at consensus ...
J M, Nigro +7 more
openaire +2 more sources
Frequencies of the MEFV Gene Mutations in Azerbaijan
Balkan Journal of Medical Genetics, 2022 The MEFV (familial Mediterranean fever gene) researches were performed in the population of the Republic of Azerbaijan in 2016–2021. Seven mutations of the MEFV gene were identified in heterozygous, homozygous and compound homozygous conditions: R761H ...
Huseynova LS, Mammadova SN, Aliyeva KAA
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
Cell, 1996 Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat ...
L. Mangiarini +10 more
semanticscholar +1 more source
Identification of a dinucleotide signature that discriminates coding from non-coding long RNAs
Frontiers in Genetics, 2014 To date, the main criterion by which long ncRNAs (lncRNAs) are discriminated from mRNAs is based on the capacity of the transcripts to encode a protein. However, it becomes important to identify non-ORF-based sequence characteristics that can be used to ...
Damien eUlveling +3 more
doaj +1 more source