Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Riana D, Hunter"'
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:
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation ha
Externí odkaz:
https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02
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:
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
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
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 (Clifton, N.J.). 2403
Embryonic morphogenesis is strictly dependent on tight spatiotemporal control of developmental gene expression, which is typically achieved through the concerted activity of multiple enhancers driving cell type-specific expression of a target gene. M
Autor:
Brandon J. Mannion, Anja Ljubojevic, Riana D. Hunter, Javier Lopez-Rios, Samuel Abassah-Oppong, Axel Visel, John Cobb, Stella Tran, Jennifer A. Akiyama, Fabrice Darbellay, Tabitha A. Festa, Iros Barozzi, Guillaume Andrey, Ingrid Plajzer-Frick, Marco Osterwalder, Diane E. Dickel, Eddie Rodríguez-Carballo, Catherine S. Novak, Len A. Pennacchio, Guy Kelman, Carly S. Sullivan, Virginie Tissières
The Shox2 homeodomain transcriptional regulator is known for its critical functions during mouse embryogenesis, enabling accurate development of limbs, craniofacial structures, neural populations and the cardiac conduction system. At the genomic leve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa4ee972d8489c226ff964a643963eb
https://doi.org/10.1101/2020.11.22.393173
https://doi.org/10.1101/2020.11.22.393173
Autor:
Rajeeva Musunuri, Evin M Padhi, Tristan J. Hayeck, Diane E. Dickel, Sumantra Chatterjee, Brandon J. Mannion, Jennifer A. Akiyama, Avinash Abhyankar, Tychele N. Turner, Zhang Cheng, David U. Gorkin, Michael C. Zody, Len A. Pennacchio, Nick Stong, Jeffrey K. Ng, Giuseppe Narzisi, Lauren E. Fries, Raphael Bernier, Marta Byrska-Bishop, Riana D. Hunter, Andrew S. Allen
Author(s): Padhi, Evin M; Hayeck, Tristan J; Mannion, Brandon; Chatterjee, Sumantra; Byrska-Bishop, Marta; Musunuri, Rajeeva; Narzisi, Giuseppe; Abhyankar, Avinash; Cheng, Zhang; Hunter, Riana D; Akiyama, Jennifer; Fries, Lauren E; Ng, Jeffrey; Stong
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ce5e385530c322e8a97f3800633d4b5
https://doi.org/10.1101/2020.08.28.270751
https://doi.org/10.1101/2020.08.28.270751
Autor:
Riana D. Hunter, Nolwenn Jean-Marçais, Brigitte Gilbert-Dussardier, Catherine S. Novak, Tyler H. Garvin, Matthew B. Dobbs, Len A. Pennacchio, Stella Tran, Yiwen Zhu, Florence Petit, Eman Meky, Axel Visel, Ivan Ovcharenko, Momoe Kato, Jennifer A. Akiyama, Diane E. Dickel, Christina A. Gurnett, Fabienne Escande, Quan Pham, Sylvie Manouvrier-Hanu, Janeth Godoy, Evgeny Z. Kvon, Sanjarbek Hudaiberdiev, Ingrid Plajzer-Frick, Guy Kelman, Veena Afzal, Anne N. Harrington
Publikováno v:
Cell
Establishing causal links between non-coding variants and human phenotypes is an increasing challenge. Here, we introduce a high-throughput mouse reporter assay for assessing the pathogenic potential of human enhancer variants in vivo and examine nea