Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Jennifer A. Akiyama"'
A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival
Autor:
Samuel Abassah-Oppong, Matteo Zoia, Brandon J. Mannion, Raquel Rouco, Virginie Tissières, Cailyn H. Spurrell, Virginia Roland, Fabrice Darbellay, Anja Itum, Julie Gamart, Tabitha A. Festa-Daroux, Carly S. Sullivan, Michael Kosicki, Eddie Rodríguez-Carballo, Yoko Fukuda-Yuzawa, Riana D. Hunter, Catherine S. Novak, Ingrid Plajzer-Frick, Stella Tran, Jennifer A. Akiyama, Diane E. Dickel, Javier Lopez-Rios, Iros Barozzi, Guillaume Andrey, Axel Visel, Len A. Pennacchio, John Cobb, Marco Osterwalder
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-24 (2024)
Abstract Approximately a quarter of the human genome consists of gene deserts, large regions devoid of genes often located adjacent to developmental genes and thought to contribute to their regulation. However, defining the regulatory functions embed
Externí odkaz:
https://doaj.org/article/ea97ba56f1764b518e534e1063bf2e68
Autor:
Sudha Sunil Rajderkar, Kitt Paraiso, Maria Luisa Amaral, Michael Kosicki, Laura E. Cook, Fabrice Darbellay, Cailyn H. Spurrell, Marco Osterwalder, Yiwen Zhu, Han Wu, Sarah Yasmeen Afzal, Matthew J. Blow, Guy Kelman, Iros Barozzi, Yoko Fukuda-Yuzawa, Jennifer A. Akiyama, Veena Afzal, Stella Tran, Ingrid Plajzer-Frick, Catherine S. Novak, Momoe Kato, Riana D. Hunter, Kianna von Maydell, Allen Wang, Lin Lin, Sebastian Preissl, Steven Lisgo, Bing Ren, Diane E. Dickel, Len A. Pennacchio, Axel Visel
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial d
Externí odkaz:
https://doaj.org/article/ad066eccb027472d812a541544ff79a2
Autor:
Sudha Rajderkar, Iros Barozzi, Yiwen Zhu, Rong Hu, Yanxiao Zhang, Bin Li, Ana Alcaina Caro, Yoko Fukuda-Yuzawa, Guy Kelman, Adyam Akeza, Matthew J. Blow, Quan Pham, Anne N. Harrington, Janeth Godoy, Eman M. Meky, Kianna von Maydell, Riana D. Hunter, Jennifer A. Akiyama, Catherine S. Novak, Ingrid Plajzer-Frick, Veena Afzal, Stella Tran, Javier Lopez-Rios, Michael E. Talkowski, K. C. Kent Lloyd, Bing Ren, Diane E. Dickel, Axel Visel, Len A. Pennacchio
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-10 (2023)
Abstract Topologically associating domain (TAD) boundaries partition the genome into distinct regulatory territories. Anecdotal evidence suggests that their disruption may interfere with normal gene expression and cause disease phenotypes1–3, but t
Externí odkaz:
https://doaj.org/article/e14ddea1acbd44d0886ef92596b4bbe5
Autor:
Frédéric Laurent, Ausra Girdziusaite, Julie Gamart, Iros Barozzi, Marco Osterwalder, Jennifer A. Akiyama, Joy Lincoln, Javier Lopez-Rios, Axel Visel, Aimée Zuniga, Rolf Zeller
Publikováno v:
Cell Reports, Vol 19, Iss 8, Pp 1602-1613 (2017)
The HAND2 transcriptional regulator controls cardiac development, and we uncover additional essential functions in the endothelial to mesenchymal transition (EMT) underlying cardiac cushion development in the atrioventricular canal (AVC). In Hand2-de
Externí odkaz:
https://doaj.org/article/f88dd9f519ce4a2cbd3c44cff84ccf43
Autor:
Diane E. Dickel, Iros Barozzi, Yiwen Zhu, Yoko Fukuda-Yuzawa, Marco Osterwalder, Brandon J. Mannion, Dalit May, Cailyn H. Spurrell, Ingrid Plajzer-Frick, Catherine S. Pickle, Elizabeth Lee, Tyler H. Garvin, Momoe Kato, Jennifer A. Akiyama, Veena Afzal, Ah Young Lee, David U. Gorkin, Bing Ren, Edward M. Rubin, Axel Visel, Len A. Pennacchio
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Identification of non-coding variants has outstripped our ability to annotate and interpret them. Dickel et al. present a compendium of over 80,000 putative human heart enhancers and demonstrate that two conserved enhancers are required for proper ca
Externí odkaz:
https://doaj.org/article/b001d43a207246388e738ba39f9b2876
Autor:
Cailyn H. Spurrell, Iros Barozzi, Michael Kosicki, Brandon J. Mannion, Matthew J. Blow, Yoko Fukuda-Yuzawa, Neil Slaven, Sarah Y. Afzal, Jennifer A. Akiyama, Veena Afzal, Stella Tran, Ingrid Plajzer-Frick, Catherine S. Novak, Momoe Kato, Elizabeth A. Lee, Tyler H. Garvin, Quan T. Pham, Anne N. Kronshage, Steven Lisgo, James Bristow, Thomas P. Cappola, Michael P. Morley, Kenneth B. Margulies, Len A. Pennacchio, Diane E. Dickel, Axel Visel
Publikováno v:
Cell reports, vol 40, iss 12
Heart disease is associated with re-expression of key transcription factors normally active only during prenatal development of the heart. However, the impact of this reactivation on the regulatory landscape in heart disease is unclear. Here, we use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e08487b6c3944840b9b551f82b259d
https://escholarship.org/uc/item/2zk8j1fx
https://escholarship.org/uc/item/2zk8j1fx
Limb-Enhancer Genie: An accessible resource of accurate enhancer predictions in the developing limb.
Autor:
Remo Monti, Iros Barozzi, Marco Osterwalder, Elizabeth Lee, Momoe Kato, Tyler H Garvin, Ingrid Plajzer-Frick, Catherine S Pickle, Jennifer A Akiyama, Veena Afzal, Niko Beerenwinkel, Diane E Dickel, Axel Visel, Len A Pennacchio
Publikováno v:
PLoS Computational Biology, Vol 13, Iss 8, p e1005720 (2017)
Epigenomic mapping of enhancer-associated chromatin modifications facilitates the genome-wide discovery of tissue-specific enhancers in vivo. However, reliance on single chromatin marks leads to high rates of false-positive predictions. More sophisti
Externí odkaz:
https://doaj.org/article/2df35e120b6d46c4941c2992b6a30bfe
Autor:
Jennifer A. Akiyama, Stella Tran, Quan T. Pham, Anne N. Harrington, Brandon J. Mannion, John L.R. Rubenstein, Momoe Kato, Catherine S. Novak, Eman Meky, Diane E. Dickel, Evgeny Z. Kvon, Ingrid Plajzer-Frick, Janeth Godoy, Veena Afzal, Len A. Pennacchio, Valentina Snetkova, Marie Shi, Athena R. Ypsilanti, Axel Visel, Yiwen Zhu, Riana D. Hunter
Publikováno v:
Nature Genetics. 53:521-528
Ultraconserved enhancer sequences show perfect conservation between human and rodent genomes, suggesting that their functions are highly sensitive to mutation. However, current models of enhancer function do not sufficiently explain this extreme evol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83544b7dd17fda5471194a1954221094
https://doi.org/10.1038/s41588-021-00812-3
https://doi.org/10.1038/s41588-021-00812-3
Autor:
Brandon J. Mannion, Marco Osterwalder, Stella Tran, Ingrid Plajzer-Frick, Catherine S. Novak, Veena Afzal, Jennifer A. Akiyama, Sarah Barton, Erik Beckman, Tyler H. Garvin, Patrick Godfrey, Janeth Godoy, Riana D. Hunter, Momoe Kato, Michal Kosicki, Anne N. Kronshage, Elizabeth A. Lee, Eman M. Meky, Quan T. Pham, Kianna von Maydell, Yiwen Zhu, Javier Lopez-Rios, Diane E. Dickel, Axel Visel, Len A. Pennacchio
Transcriptional enhancers are a predominant class of noncoding regulatory elements that activate cell type-specific gene expression. Tissue-specific enhancer-associated chromatin signatures have proven useful to identify candidate enhancer elements a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f7392f98de36be6db7108e4bf463c63
https://doi.org/10.1101/2022.05.29.493901
https://doi.org/10.1101/2022.05.29.493901
Autor:
Marco Osterwalder, Stella Tran, Riana D. Hunter, Eman M. Meky, Kianna von Maydell, Anne N. Harrington, Janeth Godoy, Catherine S. Novak, Ingrid Plajzer-Frick, Yiwen Zhu, Jennifer A. Akiyama, Veena Afzal, Evgeny Z. Kvon, Len A. Pennacchio, Diane E. Dickel, Axel Visel
Publikováno v:
Methods in Molecular Biology ISBN: 9781071618462
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95149b8e6ea19de84614c11796f4d2d0
https://doi.org/10.1007/978-1-0716-1847-9_11
https://doi.org/10.1007/978-1-0716-1847-9_11