Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]
, 2019 Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian +6 more
core +1 more source
Prevalent use and evolution of exonic regulatory sequences in the human genome
Natural Sciences, 2023 It has long been known that exons can serve as cis‐regulatory sequences, such as enhancers. However, the prevalence of such dual‐use of exons and how they evolve remain elusive.
Jing Chen +5 more
doaj +1 more source
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]
, 2016 Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene +7 more
core +2 more sources
Exon Skipping Is Correlated with Exon Circularization
Journal of Molecular Biology, 2015 Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Peter R. Cook +4 more
openaire +5 more sources
Molecular determinants of drug-specific sensitivity for epidermal growth factor receptor (EGFR) exon 19 and 20 mutants in non-small cell lung cancer. [PDF]
, 2015 We hypothesized that aberrations activating epidermal growth factor receptor (EGFR) via dimerization would be more sensitive to anti-dimerization agents (e.g., cetuximab).
Bazhenova, Lyudmila +6 more
core +3 more sources
Periodicity of DNA in exons [PDF]
BMC Molecular Biology, 2004 Abstract Background The periodic pattern of DNA in exons is a known phenomenon. It was suggested that one of the initial causes of periodicity could be the universal (RNY) n pattern (R = A or G, Y = C or U, N = any base) of ancient RNA.
Anatoly Ruvinsky +3 more
openaire +3 more sources
Identification of a dinucleotide signature that discriminates coding from non-coding long RNAs
Frontiers in Genetics, 2014 To date, the main criterion by which long ncRNAs (lncRNAs) are discriminated from mRNAs is based on the capacity of the transcripts to encode a protein. However, it becomes important to identify non-ORF-based sequence characteristics that can be used to ...
Damien eUlveling +3 more
doaj +1 more source
Veterinary Sciences, 2020 DNA methylation of different gene components, including different exons and introns, or different lengths of exons and introns is associated with differences in gene expression.
Xiao Wang, Haja N. Kadarmideen
doaj +1 more source
Phylogeny of Miliusa (Magnoliales: Annonaceae: Malmeoideae: Miliuseae), with descriptions of two new species from Malesia [PDF]
, 2013 The molecular phylogeny of Miliusa (Annonaceae) is reconstructed, with 27 (of ca. 50) species included, using a combination of seven plastid markers (rbcL exon, trnL intron, trnL-F spacer, matK exon, ndhF exon, psbA-trnH spacer, and ycf1 exon ...
Chaowasku, Tanawat, Keßler, Paul J. A.
core +2 more sources
Frequencies of the MEFV Gene Mutations in Azerbaijan
Balkan Journal of Medical Genetics, 2022 The MEFV (familial Mediterranean fever gene) researches were performed in the population of the Republic of Azerbaijan in 2016–2021. Seven mutations of the MEFV gene were identified in heterozygous, homozygous and compound homozygous conditions: R761H ...
Huseynova LS, Mammadova SN, Aliyeva KAA
doaj +1 more source