Results 21 to 30 of about 645,043 (338)
Nucleic Acids Research, 2023 Abstract It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis-acting splicing regulatory elements (SREs), but there is a misconception that all exons have an equal dependency on SREs and thus a similar vulnerability to aberrant splicing.
Lise L. Holm +5 more
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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
Detection of internal exon deletion with exon Del [PDF]
BMC Bioinformatics, 2014 Exome sequencing allows researchers to study the human genome in unprecedented detail. Among the many types of variants detectable through exome sequencing, one of the most over looked types of mutation is internal deletion of exons. Internal exon deletions are the absence of consecutive exons in a gene.
Brian D. Lehmann +7 more
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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
Comparative Analysis and Classification of Cassette Exons and Constitutive Exons [PDF]
BioMed Research International, 2017 Alternative splicing (AS) is a major engine that drives proteome diversity in mammalian genomes and is a widespread cause of human hereditary diseases. More than 95% of genes in the human genome are alternatively spliced, and the most common type of AS is the cassette exon.
Ying Cui, Meng Cai, H. Eugene Stanley
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Periodicity of DNA in exons [PDF]
BMC Molecular Biology, 2004 Abstract Background The periodic pattern of DNA in exons is a known phenomenon. It was suggested that one of the initial causes of periodicity could be the universal (RNY) n pattern (R = A or G, Y = C or U, N = any base) of ancient RNA.
Anatoly Ruvinsky +3 more
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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 ...
Peter R. Cook +4 more
openaire +5 more sources
Phylogeny of Miliusa (Magnoliales: Annonaceae: Malmeoideae: Miliuseae), with descriptions of two new species from Malesia [PDF]
, 2013 The molecular phylogeny of Miliusa (Annonaceae) is reconstructed, with 27 (of ca. 50) species included, using a combination of seven plastid markers (rbcL exon, trnL intron, trnL-F spacer, matK exon, ndhF exon, psbA-trnH spacer, and ycf1 exon ...
Chaowasku, Tanawat, Keßler, Paul J. A.
core +2 more sources