Work

Characterizing Non-coding Variants within Estrogen-related Receptor (ERR) Binding Sites

Year: 2026

Type: other

Abstract: Human cardiac diseases often arise due to disruptions in the coding regions of genes. However, the role of non-coding variants (NCVs) in developing inherited cardiac disease remain unclear. The Kelly lab has shown the key roles of the estrogen-related receptor (ERR) in cardiomyocyte (CM) gene regulation during developmental maturation. This project aims to identify and characterize NCVs within ERR binding sites in human CMs that may contribute to disease using genomic interrogation and molecular biology techniques. The findings will provide key insights into how NCVs impact ERR-mediated transcription and help prioritize pathogenic NCVs, potentially informing future diagnostic and therapeutic strategies.

Source: ScholarlyCommons (University of Pennsylvania)

Authors: SyCip, Andi, Sakamoto, Tomoya, Batmanov, Kirill, Gacita, Anthony M., Kelly, Daniel P.

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7155024948

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