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TRANSFAC: transcriptional regulation,from patterns to profiles 总被引:1,自引:0,他引:1
Matys V Fricke E Geffers R Gössling E Haubrock M Hehl R Hornischer K Karas D Kel AE Kel-Margoulis OV Kloos DU Land S Lewicki-Potapov B Michael H Münch R Reuter I Rotert S Saxel H Scheer M Thiele S Wingender E 《Nucleic acids research》2003,31(1):374-378
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Background
The proliferation of structural and functional studies of RNA has revealed an increasing range of RNA's structural repertoire. Toward the objective of systematic cataloguing of RNA's structural repertoire, we have recently described the basis of a graphical approach for organizing RNA secondary structures, including existing and hypothetical motifs. 相似文献8.
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Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements. 相似文献
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Florian Wimmers Michele Donato Alex Kuo Tal Ashuach Shakti Gupta Chunfeng Li Mai Dvorak Mariko Hinton Foecke Sarah E. Chang Thomas Hagan Sanne E. De Jong Holden T. Maecker Robbert van der Most Peggie Cheung Mario Cortese Steven E. Bosinger Mark Davis Nadine Rouphael Bali Pulendran 《Cell》2021,184(15):3915-3935.e21
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