Results 41 to 50 of about 667,667 (355)
Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]
, 2016 Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
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Proceedings of the National Academy of Sciences, 1999 The production of different transcripts (transcript heterogeneity) is a feature of many genes that may result in phenotypic variation. Several mechanisms, that occur at both the DNA and RNA level have been shown to contribute to this transcript heterogeneity in mammals, all of which involve either the rearrangement of sequences within a genome or the ...
Frantz, SA +5 more
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From Order to Chaos: Publication, Synthesis and the Dissemination of Data in a Digital Age
Internet Archaeology, 1999 In the past, the provision of authoritative, interpretative, syntheses is what archaeologists sought through publication. Now the first real challenge of the digital age has been to balance this trend and in contrast to archaeological practice over the ...
Vince Gaffney , Sally Exon
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Improved ontology for eukaryotic single-exon coding sequences in biological databases [PDF]
, 2018 Indexación: Scopus.Efficient extraction of knowledge from biological data requires the development of structured vocabularies to unambiguously define biological terms. This paper proposes descriptions and definitions to disambiguate the term 'single-exon
Clausen, P. +4 more
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POEM, A 3-dimensional exon taxonomy and patterns in untranslated exons [PDF]
BMC Genomics, 2008 Abstract Background The existence of exons and introns has been known for thirty years. Despite this knowledge, there is a lack of formal research into the categorization of exons. Exon taxonomies used by researchers tend to be selected ad hoc or based on an information poor de-facto standard. Exons have been shown to
Knapp, Keith. +2 more
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FreePSI: an alignment-free approach to estimating exon-inclusion ratios without a reference transcriptome. [PDF]
, 2017 Alternative splicing plays an important role in many cellular processes of eukaryotic organisms. The exon-inclusion ratio, also known as percent spliced in, is often regarded as one of the most effective measures of alternative splicing events.
Jiang, Tao +4 more
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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
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Mutations in the PKM2 exon-10 region are associated with reduced allostery and increased nuclear translocation. [PDF]
, 2019 PKM2 is a key metabolic enzyme central to glucose metabolism and energy expenditure. Multiple stimuli regulate PKM2's activity through allosteric modulation and post-translational modifications.
Chen, Tsan-Jan +11 more
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Frontiers in MedicineRecent advances in synthetic drug manufacturing have introduced a new dynamic to the European regulatory system, with chemically synthesized polypeptide products using biological originator products as their reference medicine.
Kevin Klein +2 more
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Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
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