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Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01467-7
Abstract: The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits and diseases. The majority of these variants map in non-coding regulatory…
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Keywords:
enhancer activity;
promoter usage;
genetic variation;
promoter ... See more keywords
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Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2420893122
Abstract: Significance A key challenge in the field of evolutionary developmental biology is identifying the types of genetic changes that lead to morphological evolution. The field currently focuses on the role of regulatory changes in this…
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Keywords:
evolution;
usage evolution;
evolution aphid;
aphid wing ... See more keywords
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Published in 2025 at "Journal of bioinformatics and computational biology"
DOI: 10.1142/s0219720025500040
Abstract: Promoter shifting, characterized by alterations in Transcription Start Site (TSS) coordinates, is a well-documented phenomenon. The impact and statistical significance of promoter shifting can be assessed through analysis of Cap Analysis of Gene Expression (CAGE)…
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Keywords:
promoter;
expression;
differential promoter;
gene ... See more keywords
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Published in 2019 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2019.00667
Abstract: SATB1 is a genome organizer protein that is expressed in a lineage specific manner in CD4+ T-cells. SATB1 plays a crucial role in expression of multiple genes throughout the thymic development and peripheral differentiation of…
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Keywords:
promoter usage;
via alternative;
expression;
differentiation ... See more keywords
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Published in 2019 at "eLife"
DOI: 10.7554/elife.41673
Abstract: Genetic variants regulating RNA splicing and transcript usage have been implicated in both common and rare diseases. Although transcript usage quantitative trait loci (tuQTLs) have been mapped across multiple cell types and contexts, it is…
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Keywords:
transcript usage;
promoter usage;
usage;
complex traits ... See more keywords