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Article
Open AccessMultiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene
Apolipoprotein B (APOB) is an integral component of the chylomicron and the atherogenic lipoproteins LDL and Lp(a). Exon 26 of the APOB pre-mRNA is unusually long at 7,572 nt and is constitutively spliced. It is ...
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Protocol
DNA Diagnostics and Exon Skip**
The predominate form of DNA diagnostics remains nucleic acid sequencing in the research and clinical setting. While DNA sequencing allows a mutation to be correctly identified, only RNA sequencing can confirm ...
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Article
Imaging of pheochromocytomas and paragangliomas
Pheochromocytomas and paragangliomas are rare tumors, but their investigation and management are complex and expensive, both in terms of time and resources. A novel prospective study systematically compared di...
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Article
Open AccessAntisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB
Apolipoprotein B (APOB) is an integral part of the LDL, VLDL, IDL, Lp(a) and chylomicron lipoprotein particles. The APOB pre-mRNA consists of 29 constitutively-spliced exons. APOB exists as two natural isoforms: ...
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Article
CT and MR imaging of unusual locations of extra-adrenal paragangliomas (pheochromocytomas)
Our review was undertaken to describe CT and MRI features of unusual extra-adrenal paragangliomas (pheochromocytomas). We retrospectively reviewed CT and MRI findings in 29 patients with 39 extra-adrenal parag...
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Article
Open AccessAssembly of splicing complexes on exon 11 of the human insulin receptor gene does not correlate with splicing efficiency in-vitro
Incorporation of exon 11 of the insulin receptor gene is both developmentally and hormonally-regulated. Previously, we have shown the presence of enhancer and silencer elements that modulate the incorporation ...
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Article
Open AccessNucleolar localization of an isoform of the IGF-I precursor
Alternative exons encode different isoforms of the human insulin-like growth factor-I (IGF-I) precursor without altering mature IGF-I. We hypothesized that the various IGF-I precursors may traffic IGF-I differ...
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Article
Listening to silence and understanding nonsense: exonic mutations that affect splicing
A large fraction of point mutations that cause genetic diseases affect splicing efficiency and/or accuracy. Most of these mutations directly affect the canoni...
