2024 article

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Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis

Stonebraker, J., Pace, R., Gallins, P., Dang, H., Aksit, M., Faino, A., … Knowles, M. (2024, March 27). HEPATOLOGY.

By: J. Stonebraker^*, R. Pace^*, P. Gallins ⁿ, H. Dang ^*, M. Aksit ^*, A. Faino, W. Gordon ^*, S. Macparland ^* ...and 10 other authors, including 2 NC State authors, M. Bamshad ^*, R. Gibson^*, G. Cutting ^*, P. Durie, F. Wright ⁿ, Y. Zhou ⁿ , S. Blackman ^*, W. O'Neal ^*, S. Ling^*, M. Knowles^*

author keywords: MAIT cells; whole genome sequencing; GWAS; TWAS; CFLD

10.1097/HEP.0000000000000863

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UN Sustainable Development Goal Categories

3. Good Health and Well-being (OpenAlex)

Source: Web Of Science

Added: April 15, 2024

Background and Aims: It is not known why severe cystic fibrosis (CF) liver disease (CFLD) with portal hypertension occurs in only ~7% of people with CF (pwCF). We aimed to identify genetic modifiers for severe CFLD to improve understanding of disease mechanisms.