A promoter interaction map for cardiovascular disease genetics

Autor: Lindsey E Montefiori, Debora R Sobreira, Noboru J Sakabe, Ivy Aneas, Amelia C Joslin, Grace T Hansen, Grazyna Bozek, Ivan P Moskowitz, Elizabeth M McNally, Marcelo A Nóbrega

Publikováno v: eLife, Vol 7 (2018)

Over 500 genetic loci have been associated with risk of cardiovascular diseases (CVDs); however, most loci are located in gene-distal non-coding regions and their target genes are not known. Here, we generated high-resolution promoter capture Hi-C (P

Externí odkaz: https://doaj.org/article/074cffa7559f4a5c8b6225ec57ffee68

Lipid droplet turnover at the lysosome inhibits growth of hepatocellular carcinoma in a BNIP3-dependent manner

Autor: Damian E. Berardi, Althea Bock-Hughes, Alexander R. Terry, Lauren E. Drake, Grazyna Bozek, Kay F. Macleod

Publikováno v: Science advances. 8(41)

Hepatic steatosis is a major etiological factor in hepatocellular carcinoma (HCC), but factors causing lipid accumulation leading to HCC are not understood. We identify BNIP3 (a mitochondrial cargo receptor) as an HCC suppressor that mitigates agains

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c904f9f6b459785f4e8995f0b89114
https://pubmed.ncbi.nlm.nih.gov/36223464

Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5

Autor: Débora R. Sobreira, Kyle H. Flippo, Matthew J. Potthoff, Iain Williamson, Amelia C Joslin, Noboru J. Sakabe, Qi Zhang, Melina Claussnitzer, Carole Ober, Nasa Sinnott-Armstrong, Ivy Aneas, Wendy A. Bickmore, Marcelo A. Nobrega, Mengjie Chen, Sharon O. Jensen-Cody, Grace T Hansen, Kathryn M. Farris, Grazyna Bozek

Publikováno v: Sobreira, D R, Joslin, A C, Zhang, Q, Williamson, I, Hansen, G T, Farris, K M, Sakabe, N J, Sinnott-Armstrong, N, Bozek, G, Jensen-Cody, S O, Flippo, K H, Ober, C, Bickmore, W A, Potthoff, M, Chen, M, Claussnitzer, M, Aneas, I & Nobrega, M A 2021, ' Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5 ', Science . https://doi.org/10.1126/science.abf1008

Obesity genes working together The biological causes of obesity are not well understood. Sobreira et al. examined the chromatin interactions between key genes in a locus known for its associations with obesity in human patients. In addition to direct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db253d5d6d20509f884f3b62d93952d1
https://hdl.handle.net/20.500.11820/f8655a32-0332-4467-b5c4-31feb661cef8

Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of

Autor: Débora R, Sobreira, Amelia C, Joslin, Qi, Zhang, Iain, Williamson, Grace T, Hansen, Kathryn M, Farris, Noboru J, Sakabe, Nasa, Sinnott-Armstrong, Grazyna, Bozek, Sharon O, Jensen-Cody, Kyle H, Flippo, Carole, Ober, Wendy A, Bickmore, Matthew, Potthoff, Mengjie, Chen, Melina, Claussnitzer, Ivy, Aneas, Marcelo A, Nóbrega

Publikováno v: Science

While coding variants often have pleiotropic effects across multiple tissues, non-coding variants are thought to mediate their phenotypic effects by specific tissue and temporal regulation of gene expression. Here, we dissected the genetic and functi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0e80c9b4ee50503e33b9c6cc53346a60
https://pubmed.ncbi.nlm.nih.gov/34083488

Identification of Ssm1b, a novel modifier of DNA methylation, and its expression during mouse embryogenesis

Autor: Andrej Podlutsky, Steve Austad, Liqun Mao, Peter Engler, Terence E. Martin, S. S. Ratnam, Grazyna Bozek, Ursula Storb

Publikováno v: Development. 141:2024-2034

The strain-specific modifier Ssm1 is responsible for the strain-dependent methylation of particular E. coli gpt-containing transgenic sequences. Here, we identify Ssm1 as the KRAB-zinc finger (ZF) gene 2610305D13Rik located on distal chromosome 4. Ss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87390aa068229e816f1ebac0eaa407af
https://doi.org/10.1242/dev.105726