Results 11 to 20 of about 395,522 (295)
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Molecular Therapy: Nucleic Acids, 2014 Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account ...
Kane L Greer +4 more
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ExonSurfer: a web-tool to design primers at exon–exon junctions
BMC GenomicsBackground Reverse transcription quantitative PCR (RT-qPCR) with intercalating dyes is one of the main techniques to assess gene expression levels used in basic and applied research as well as in diagnostics.
Pablo Monfort-Lanzas +8 more
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JuncDB: an exon–exon junction database [PDF]
Nucleic Acids Research, 2015 Intron positions upon the mRNA transcript are sometimes remarkably conserved even across distantly related eukaryotic species. This has made the comparison of intron-exon architectures across orthologous transcripts a very useful tool for studying various evolutionary processes.
Lotem Guy, Liran Carmel, Michal Chorev
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Molecular Cell, 2010 Pathways of intron/exon specification that drive spliceosome assembly remain unclear. In this issue of Molecular Cell, Schneider et al. (2010) extensively characterize complexes formed on exons, demonstrating unexpected components and providing insights into the switch from cross-exon to cross-intron interactions.
Charles C. Query, Alberto Moldón
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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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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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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
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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
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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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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
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