A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]
, 2015 Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera +86 more
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Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.
PLoS ONE, 2012 UnlabelledMutations in RPGRIP1 are associated with early onset retinal degenerations in humans and dogs. Dogs homozygous for a 44 bp insertion including a polyA(29) tract potentially leading to premature truncation of the protein, show cone rod ...
Keiko Miyadera +4 more
doaj +1 more source
A Variable Polyglutamine Repeat Affects Subcellular Localization and Regulatory Activity of a Populus ANGUSTIFOLIA Protein. [PDF]
, 2018 Polyglutamine (polyQ) stretches have been reported to occur in proteins across many organisms including animals, fungi and plants. Expansion of these repeats has attracted much attention due their associations with numerous human diseases including ...
Barry, Kerrie +12 more
core +1 more source
Hepatology, EarlyView., 2022 Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro +17 more
wiley +1 more source
Reading-frame Restoration by Transcriptional Slippage at Long Stretches of Adenine Residues in Mammalian Cells [PDF]
Journal of Biological Chemistry, 1997 We previously characterized a mutant apoB allele (the apoB86 allele) that produces both a truncated apoB (apoB86) and a full-length apoB100. The mutant allele contained a deletion of a single cytosine in exon 26, creating a stretch of eight consecutive adenines in the -1 reading frame.
M F, Linton +3 more
openaire +2 more sources
Removal of PolyA Tails from Full-Length cDNA Libraries for High-Efficiency Sequencing
BioTechniques, 2001 We have developed a method to overcome sequencing problems caused by the presence of homopolymer stretches, such as polyA/T, in cDNA libraries. PolyA tails are shortened by cleaving before cDNA cloning with type IIS restriction enzymes, such as GsuI ...
Y. Shibata +19 more
doaj +1 more source
Genes in the postgenomic era [PDF]
, 2006 We outline three very different concepts of the gene - 'instrumental', 'nominal', and 'postgenomic'. The instrumental gene has a critical role in the construction and interpretation of experiments in which the relationship between genotype and phenotype ...
B. Alberts +38 more
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Polyglutamine and Polyalanine Tracts Are Enriched in Transcription Factors of Plants [PDF]
, 2012 Polyglutamine (polyQ) tracts have been studied extensively for their roles in a number of human diseases such as Huntington\u27s or different Ataxias. However, it has also been recognized that polyQ tracts are abundant and may have important functional ...
Gramzow, Lydia +3 more
core +1 more source
Reverse Transcription Slippage over the mRNA Secondary Structure of the LIP1 Gene
BioTechniques, 2001 The secondary structures in mRNA often cause early termination during the synthesis of cDNA. In an attempt to determine the 5'-untranslated region (UTR) of the gene LIP1 using the RNA ligase-mediated rapid amplification of cDNA ends (RLM-RACE), we found that reverse transcriptases skipped over the LIP1 RNA secondary structures and continued the DNA ...
Yan-Jin Zhang +2 more
openaire +3 more sources
Unusual Metabolism and Hypervariation in the Genome of a Gracilibacterium (BD1-5) from an Oil-Degrading Community. [PDF]
, 2019 The candidate phyla radiation (CPR) comprises a large monophyletic group of bacterial lineages known almost exclusively based on genomes obtained using cultivation-independent methods.
Andersen, Gary L +7 more
core +2 more sources