The CUGBP2 splicing factor regulates an ensemble of branchpoints from perimeter binding sites with implications for autoregulation [PDF]
, 2009 Alternative pre-mRNA splicing adjusts the transcriptional output of the genome by generating related mRNAs from a single primary transcript, thereby expanding protein diversity.
Dembowski, JA, Grabowski, PJ
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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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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
doaj +1 more source
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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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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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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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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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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Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours [PDF]
, 2017 This study investigated Ki t receptor dysregulations (cytoplasmic immunohistochemical expression and/or c-KIT mutations) in cats a\ufb00ected with splenic mast cell tumours. Twenty-two cats were included.
Amagai +32 more
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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]
, 2010 Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N +9 more
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