Results 21 to 30 of about 303,737 (269)
Frontiers in Genetics, 2018 Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate +11 more
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hnRNP A/B Proteins: An Encyclopedic Assessment of Their Roles in Homeostasis and Disease
Biology, 2021 The hnRNP A/B family of proteins is canonically central to cellular RNA metabolism, but due to their highly conserved nature, the functional differences between hnRNP A1, A2/B1, A0, and A3 are often overlooked. In this review, we explore and identify the
Patricia A. Thibault +5 more
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Exon sequences at the splice junctions affect splicing fidelity and alternative splicing [PDF]
Proceedings of the National Academy of Sciences, 2009 Identification of splice sites is essential for the expression of most eukaryotic genes, allowing accurate splicing of pre-mRNAs. The splice sites are recognized by the splicing machinery based on sequences within the pre-mRNA. Here, we show that the exon sequences at the splice junctions play a significant, previously unrecognized role in the ...
Luciana B, Crotti, David S, Horowitz
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Journal of Developmental Biology, 2023 The sexual fate of honeybees is determined by the complementary sex determination (CSD) model: heterozygosity at a single locus (the CSD locus) determines femaleness, while hemizygosity or homozygosity at the CSD locus determines maleness.
Yukihiro Suzuki +2 more
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Splice and Dice: Intronic microRNAs, Splicing and Cancer [PDF]
Biomedicines, 2021 Introns span only a quarter of the human genome, yet they host around 60% of all known microRNAs. Emerging evidence indicates the adaptive advantage of microRNAs residing within introns is attributed to their complex co-regulation with transcription and alternative splicing of their host genes.
Alex C. H. Wong, John E. J. Rasko
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Diagnostics, 2022 Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS.
Nathalie Douet-Guilbert +3 more
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Splicing and alternative splicing in rice and humans
BMB Reports, 2013 Rice is a monocot gramineous crop, and one of the most important staple foods. Rice is considered a model species for most gramineous crops. Extensive research on rice has provided critical guidance for other crops, such as maize and wheat. In recent years, climate change and exacerbated soil degradation have resulted in a variety of abiotic stresses ...
Zhiguo E, Lei Wang, Jianhua Zhou
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Biotechnology & Biotechnological Equipment, 2016 Cloning of coding sequence (CDS) is an important step for gene function research. Here, we reported a simple and efficient strategy for assembling multiple-exon into an intron-free CDS from genomic DNA (gDNA) by an isothermal recombination reaction-based
Wenxuan Chen +7 more
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Exon definitive regions for MPC1 microexon splicing and its usage for splicing modulation
Molecular Therapy: Nucleic Acids, 2023 Alternative splicing of microexons (3–30 base pairs [bp]) is involved in important biological processes in brain development and human cancers. However, understanding a splicing process of non-3x bp microexons is scarce.
Eunjin Koh, Daye Shin, Kyung-Sup Kim
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Сахарный диабет, 2019 An erratum on «A synonymous variant in GCK gene as a cause of gestational diabetes mellitus» by Natalya A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasiliev, Vasily M. Petrov, Anatoly N. Tiulpakov (2019)
Natalia A. Zubkova +7 more
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