Results 11 to 20 of about 838,175 (338)
Microorganisms, 2022 The conventionally clear distinction between exons and introns in eukaryotic genes is actually blurred. To illustrate this point, consider sequences that are retained in mature mRNAs about 50% of the time: how should they be classified?
Judith Ryll +2 more
doaj +1 more source
Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue
Nature Biotechnology, 2022 Single-nuclei RNA sequencing characterizes cell types at the gene level. However, compared to single-cell approaches, many single-nuclei cDNAs are purely intronic, lack barcodes and hinder the study of isoforms.
S. Hardwick +29 more
semanticscholar +1 more source
Frontiers in Genetics, 2022 Primary Coenzyme Q10 Deficiency-7 (COQ10D7) is a rare mitochondrial disorder caused by pathogenic COQ4 variants. In this review, we discuss the correlation of COQ4 genotypes, particularly the East Asian-specific c.370G > A variant, with the clinical ...
Jieqiong Xie +3 more
doaj +1 more source
Exon junction complex shapes the m6A epitranscriptome
Nature Communications, 2022 N6-methyladenosine (m^6A), the most abundant modification of mRNA, is essential for normal development and dysregulation promotes cancer. m^6A is highly enriched in the 3’ untranslated region (UTR) of a large subset of mRNAs to influence mRNA stability ...
Xin Yang +4 more
semanticscholar +1 more source
Capmatinib in MET Exon 14-Mutated or MET-Amplified Non-Small-Cell Lung Cancer.
New England Journal of Medicine, 2020 BACKGROUND Among patients with non-small-cell lung cancer (NSCLC), MET exon 14 skipping mutations occur in 3 to 4% and MET amplifications occur in 1 to 6%.
J. Wolf +31 more
semanticscholar +1 more source
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
Molecular Therapy, 2021 Mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). The two most recurrent mutations in USH2A, c.2299delG and c.2276G > T, both reside in exon 13.
K. Dulla +24 more
semanticscholar +1 more source
Molecular Profiling of FIX (FACTOR 9) Gene of Hemophilia B in Karnataka
BLDE University Journal of Health Sciences, 2020 Introduction: Haemophilia is one of the “Bleeder Disorder” that causes abnormal bleeding or poor blood clotting. It occurs due to the defect in the clotting factors even in their functions and in some cases structures are altered.
Sujayendra Kulkarni +6 more
doaj +1 more source
Tepotinib in Non-Small-Cell Lung Cancer with MET Exon 14 Skipping Mutations.
New England Journal of Medicine, 2020 BACKGROUND A splice-site mutation that results in a loss of transcription of exon 14 in the oncogenic driver MET occurs in 3 to 4% of patients with non-small-cell lung cancer (NSCLC).
P. Paik +34 more
semanticscholar +1 more source
Gene Architecture Facilitates Intron-Mediated Enhancement of Transcription
Frontiers in Molecular Biosciences, 2021 Introns impact several vital aspects of eukaryotic organisms like proteomic plasticity, genomic stability, stress response and gene expression. A role for introns in the regulation of gene expression at the level of transcription has been known for more ...
Katherine Dwyer +3 more
doaj +1 more source