Results 1 to 10 of about 838,076 (239)
A unified mechanism for intron and exon definition and back-splicing [PDF]
Nature, 2019 The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Xueni Li, Shiheng Liu, Lingdi Zhang
exaly +4 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 ...
Kelly, S +3 more
openaire +5 more sources
Structure of a spliceosome remodelled for exon ligation
Nature, 2017 The spliceosome excises introns from pre-mRNAs in two sequential transesterifications—branching and exon ligation—catalysed at a single catalytic metal site in U6 small nuclear RNA (snRNA).
Sebastian M Fica +2 more
exaly +2 more sources
Complementary Sequence-Mediated Exon Circularization
Cell, 2014 Xiao-Ou Zhang, Ling-Ling Chen, Li Yang
exaly +2 more sources
Mutation analysis of exon 5 of PAH gene in phenylketonuria patients from Golestan Province, Iran [PDF]
Journal of Shahrekord University of Medical Sciences, 2022 Background and aims: In the phenylalanine hydroxylase (PAH) gene, various mutations are mainly responsible for phenylketonuria (PKU). After thalassemia, PKU is considered as the most common autosomal recessive disease among Iranian population. Therefore,
Mehrnaz Zarinkoob +1 more
doaj +1 more source
Diagnostics, 2023 Hashimoto’s thyroiditis (HT) is a chronic autoimmune disorder characterized by the production of autoantibodies against the thyroid gland. Different studies have shown that several genes may be associated with HT, which explains why patients often have ...
Alin-Dan Chiorean +7 more
doaj +1 more source
Exon architecture controls mRNA m6A suppression and gene expression
Science, 2023 N6-methyladenosine (m6A) is the most abundant messenger RNA (mRNA) modification and plays crucial roles in diverse physiological processes. Using a massively parallel assay for m6A (MPm6A), we discover that m6A specificity is globally regulated by ...
P. He +13 more
semanticscholar +1 more source
A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1
Frontiers in Cell and Developmental Biology, 2022 Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare inherited monogenic autoimmune disease characterized by the presence of at least two of three following major clinical features: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal
Guofeng Qian +5 more
doaj +1 more source
JuncDB: an exon–exon junction database [PDF]
Nucleic Acids Research, 2015 Intron positions upon the mRNA transcript are sometimes remarkably conserved even across distantly related eukaryotic species. This has made the comparison of intron-exon architectures across orthologous transcripts a very useful tool for studying various evolutionary processes.
Chorev, Michal +2 more
openaire +2 more sources
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
Nature, 2021 A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neurons in the brain and spinal cord1.
X. Ma +34 more
semanticscholar +1 more source