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Genetic variations within human gained enhancer elements affect human brain sulcal morphology [PDF]

open access: yesNeuroImage, 2023
The expansion of the cerebral cortex is one of the most distinctive changes in the evolution of the human brain. Cortical expansion and related increases in cortical folding may have contributed to emergence of our capacities for high-order cognitive ...
Herve Lemaitre   +7 more
doaj   +6 more sources

Identifying enhancer properties associated with genetic risk for complex traits using regulome-wide association studies.

open access: yesPLoS Computational Biology, 2022
Genetic risk for complex traits is strongly enriched in non-coding genomic regions involved in gene regulation, especially enhancers. However, we lack adequate tools to connect the characteristics of these disruptions to genetic risk.
Alex M Casella   +2 more
doaj   +2 more sources

Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

open access: yesFrontiers in Genetics, 2022
A major goal of genetics research is to elucidate mechanisms explaining how genetic variation contributes to phenotypic variation. The genetic variants identified in genome-wide association studies (GWASs) generally explain only a small proportion of ...
Mariana Saint Just Ribeiro   +6 more
doaj   +1 more source

Parallel functional testing identifies enhancers active in early postnatal mouse brain

open access: yeseLife, 2021
Enhancers are cis-regulatory elements that play critical regulatory roles in modulating developmental transcription programs and driving cell-type-specific and context-dependent gene expression in the brain. The development of massively parallel reporter
Jason T Lambert   +19 more
doaj   +1 more source

Characterization of transcriptional enhancers in the chicken genome using CRISPR-mediated activation

open access: yesFrontiers in Genome Editing, 2023
DNA regulatory elements intricately control when, where, and how genes are activated. Therefore, understanding the function of these elements could unveil the complexity of the genetic regulation network.
Jeong Hoon Han   +3 more
doaj   +1 more source

Global chromatin accessibility profiling analysis reveals a chronic activation state in aged muscle stem cells

open access: yesiScience, 2022
Summary: Regulation of chromatin accessibility is critical for cell fate decisions. Chromatin structure responds to extrinsic environments rapidly. The traditional adult stem cell isolation approach requires tissue dissociation, which triggers stem cell ...
Anqi Dong   +6 more
doaj   +1 more source

Regulation of inflammation in diabetes: From genetics to epigenomics evidence

open access: yesMolecular Metabolism, 2020
Background: Diabetes is one of the greatest public health challenges worldwide, and we still lack complementary approaches to significantly enhance the efficacy of preventive and therapeutic approaches.
Marc Diedisheim   +5 more
doaj   +1 more source

Conserved regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals

open access: yesNature Communications, 2021
Genetic elements that control inflammatory gene expression are not fully elucidated. Here the authors conduct a multi-species analysis of chromatin landscape and NF-κB binding in response to the proinflammatory cytokine TNFα, finding that conserved NF-κB
Azad Alizada   +11 more
doaj   +1 more source

Establishment and function of chromatin modification at enhancers [PDF]

open access: yesOpen Biology, 2020
How a single genome can give rise to distinct cell types remains a fundamental question in biology. Mammals are able to specify and maintain hundreds of cell fates by selectively activating unique subsets of their genome.
Amanuel Tafessu, Laura A. Banaszynski
doaj   +1 more source

Characterizing Genetic Regulatory Elements in Ovine Tissues

open access: yesFrontiers in Genetics, 2021
The Ovine Functional Annotation of Animal Genomes (FAANG) project, part of the broader livestock species FAANG initiative, aims to identify and characterize gene regulatory elements in domestic sheep.
Kimberly M. Davenport   +14 more
doaj   +1 more source

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