Results 61 to 70 of about 838,175 (338)
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]
, 2015 Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti +22 more
core +1 more source
Detection of internal exon deletion with exon Del [PDF]
BMC Bioinformatics, 2014 Exome sequencing allows researchers to study the human genome in unprecedented detail. Among the many types of variants detectable through exome sequencing, one of the most over looked types of mutation is internal deletion of exons. Internal exon deletions are the absence of consecutive exons in a gene.
Guo, Yan +7 more
openaire +2 more sources
Exon circularization requires canonical splice signals.
Cell Reports, 2015 Circular RNAs (circRNAs), an abundant class of noncoding RNAs in higher eukaryotes, are generated from pre-mRNAs by circularization of adjacent exons.
S. Starke +6 more
semanticscholar +1 more source
Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions
FEBS Letters, EarlyView.We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva +10 more
wiley +1 more source
Expression of the plasma prekallikrein gene: utilization of multiple transcription start sites and alternative promoter regions [PDF]
, 2005 The plasma prekallikrein gene is expressed in many different human tissues at distinctly different levels and therefore tissue-specific control of the gene transcription is likely.
Akita +12 more
core +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Molecular Genetics & Genomic MedicineBackground Developmental dysplasia of the hip (DDH) is a prevalent congenital musculoskeletal disorder characterized by structural abnormalities of the hip joint.
Yan Miao +3 more
doaj +1 more source
Amending the Treatment of Defense Production Enterprises Under the U.S. Exon-Florio Provision: A Move Toward Protectionism or Globalism [PDF]
, 1992 Discusses the Exon-Florio Provision of the Omnibus Trade & Competitiveness Act. It gives the President of the United States the power to prohibit or to prevent on a temporary basis a non-U.S. corporation from merging with or acquiring a U.S. corporation
Cappucci, Robert N.
core +1 more source
Cloning and expression of porcine β1,4 N-acetylgalactosaminyl transferase encoding a new xenoreactive antigen [PDF]
, 2014 Xenograft rejection of pigs organs with an engineered mutation in the GGTA-1 gene (GTKO) remains a predominantly antibody mediated process which is directed to a variety of non-Gal protein and carbohydrate antigens.
Byrne, GW +4 more
core +2 more sources
Novel Nine-Exon AR Transcripts (Exon 1/Exon 1b/Exons 2–8) in Normal and Cancerous Breast and Prostate Cells [PDF]
International Journal of Molecular Sciences, 2016 Nearly 20 different transcripts of the human androgen receptor (AR) are reported with two currently listed as Refseq isoforms in the NCBI database. Isoform 1 encodes wild-type AR (type 1 AR) and isoform 2 encodes the variant AR45 (type 2 AR). Both variants contain eight exons: they share common exons 2–8 but differ in exon 1 with the canonical exon 1 ...
Dong Hu +4 more
openaire +2 more sources