Results 31 to 40 of about 395,522 (295)
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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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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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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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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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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Orphanet Journal of Rare Diseases, 2012 Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Annemieke Aartsma-Rus +4 more
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Frontiers in Molecular Neuroscience, 2019 Genetic variants of the SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene, which encodes excitatory postsynaptic core scaffolds cause numerous brain disorders.
Chunmei Jin +12 more
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Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. [PDF]
PLoS ONE, 2014 Spinal muscular atrophy (SMA) is one of the most common inherited causes of pediatric mortality. SMA is caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene, which results in SMN protein deficiency.
Claribel D Wee +3 more
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Jurnal Respirasi, 2023 Introduction: Patients with adenocarcinoma of the lung that have a common EGFR mutation, the Exon 19 Del mutation, survive better than those with the Exon 21 L858R mutation.
Stephen Johan Prasetyo +4 more
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Selecting informative features of human gene exons
Журнал Белорусского государственного университета: Математика, информатика, 2019 Dimensionality reduction of the human gene exon feature space is considered with the aim of gene identification. To evaluate the performance of various feature selection algorithms, computational experiments were carried out using the examples of exons ...
Andrei V. Volkau +2 more
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