Results 1 to 10 of about 586,929 (366)
Splicing repression allows the gradual emergence of new Alu-exons in primate evolution [PDF]
eLife, 2016 Alu elements are retrotransposons that frequently form new exons during primate evolution. Here, we assess the interplay of splicing repression by hnRNPC and nonsense-mediated mRNA decay (NMD) in the quality control and evolution of new Alu-exons.
Jan Attig +7 more
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Comparative Analysis and Classification of Cassette Exons and Constitutive Exons [PDF]
BioMed Research International, 2017 Alternative splicing (AS) is a major engine that drives proteome diversity in mammalian genomes and is a widespread cause of human hereditary diseases. More than 95% of genes in the human genome are alternatively spliced, and the most common type of AS ...
Ying Cui, Meng Cai, H. Eugene Stanley
semanticscholar +4 more sources
Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province [PDF]
مجله دانشکده پزشکی اصفهان, 2023 Background: Cystic fibrosis is one of the most fatal multisystem disorders and the most common autosomal recessive disease in the white population, which occurs due to mutations in cystic fibrosis membrane regulatory proteins (CFTR).
Leili Delfi Fallah +4 more
doaj +1 more source
Reversing T Cell Exhaustion by Converting Membrane PD-1 to Its Soluble form in Jurkat Cells; Applying The CRISPR/Cas9 Exon Skipping Strategy [PDF]
Cell Journal, 2023 Objective: T-cells express two functional forms of the programmed cell death protein 1 (PD-1): membrane (mPD-1) andsoluble (sPD-1). The binding of mPD-1 and its ligand (PD-L1) on tumor cells could lead activated lymphocytes towardexhaustion.
Zeinab Yousefi-Najafabadi +5 more
doaj +1 more source
Regulation of Tau Expression in Superior Cervical Ganglion (SCG) Neurons In Vivo and In Vitro
Cells, 2023 The superior cervical ganglion (SCG) is part of the autonomic nervous system providing sympathetic innervation to the head and neck, and has been regularly used to prepare postnatal neuronal cultures for cell biological studies.
Ying Jin +3 more
doaj +1 more source
The era of cryptic exons: implications for ALS-FTD
Molecular Neurodegeneration, 2023 TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
P. Mehta +3 more
semanticscholar +1 more source
Zhongguo shuxue zazhi, 2022 Objective To investigate the distribution frequency and characteristics of Rh and Kell erythrocyte blood group antigens in Uygur population in Xinjiang, and to explore the molecular mechanism of K gene positive patients, so as to build a local rare blood
Jin QIU +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
Molecular Cell, 2010 Pathways of intron/exon specification that drive spliceosome assembly remain unclear. In this issue of Molecular Cell, Schneider et al. (2010) extensively characterize complexes formed on exons, demonstrating unexpected components and providing insights into the switch from cross-exon to cross-intron interactions.
Moldón, Alberto, Query, Charles
openaire +2 more sources
Duchenne's/Becker's muscular dystrophy: Analysis of genotype-feno-type correlation in 28 patients [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2002 Duchenne's and Becker's muscular dystrophy (DMD & BMD) is a X linked disease caused by mutations in the dystrophic gene. DMD is the malign form of the disease, which significantly shortens the lifetime of the patient, while BMD has late onset with ...
Keckarević Milica +7 more
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