Zobrazeno 1 - 10
of 216
pro vyhledávání: '"Bruno, Reversade"'
Autor:
Tram Anh Nguyen, Jia Wei Joel Heng, Yan Ting Ng, Rui Sun, Shira Fisher, Gokce Oguz, Pornchai Kaewsapsak, Shifeng Xue, Bruno Reversade, Adaikalavan Ramasamy, Eli Eisenberg, Meng How Tan
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-25 (2023)
Abstract Background Xenopus has served as a valuable model system for biomedical research over the past decades. Notably, ADAR was first detected in frog oocytes and embryos as an activity that unwinds RNA duplexes. However, the scope of A-to-I RNA e
Externí odkaz:
https://doaj.org/article/abccd887de8d46a085dc1ca76e7b252c
Autor:
Andres Tapia del Fierro, Bianca den Hamer, Natalia Benetti, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai, Alexandra D. Gurzau, Lucia Daxinger, Shifeng Xue, Thanh Thao Nguyen Ly, Iromi Wanigasuriya, Megan Iminitoff, Kelsey Breslin, Harald Oey, Yvonne D. Krom, Dinja van der Hoorn, Linde F. Bouwman, Timothy M. Johanson, Matthew E. Ritchie, Quentin A. Gouil, Bruno Reversade, Fabrice Prin, Timothy Mohun, Silvère M. van der Maarel, Edwina McGlinn, James M. Murphy, Andrew Keniry, Jessica C. de Greef, Marnie E. Blewitt
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)
Abstract The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental ta
Externí odkaz:
https://doaj.org/article/4b268abe87144921872eecf80d018c13
Autor:
Youjin Oh, Grace Yoon, Michael Maier, Bruno Reversade, Jessie Cameron, Susan Blaser, Cynthia Hawkins
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101168- (2024)
Externí odkaz:
https://doaj.org/article/0c3457b103b34492827f462dbb0b1338
Autor:
Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
The integrator complex is required for the synthesis of protein coding and non-coding RNA and contains the protein INTS13. Here, the authors find germline mutations in INTS13 in two families with oral facial digital syndrome and show that the mutatio
Externí odkaz:
https://doaj.org/article/35883c108c1d4e72ba468a3fd1444767
Autor:
Eva Hasel de Carvalho, Shivani S Dharmadhikari, Kateryna Shkarina, Jingwei Rachel Xiong, Bruno Reversade, Petr Broz, Maria Leptin
Publikováno v:
eLife, Vol 12 (2023)
The inflammasome is a conserved structure for the intracellular detection of danger or pathogen signals. As a large intracellular multiprotein signaling platform, it activates downstream effectors that initiate a rapid necrotic programmed cell death
Externí odkaz:
https://doaj.org/article/5a6d7fc847d3413f978e958162dcd43c
Autor:
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Somatic and germline gain‐of‐function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor‐prone syndromes known as the RASopathies. In this study, we document the first human phenot
Externí odkaz:
https://doaj.org/article/12fc7fb5e634482b982be6cd3b0c8a2c
Autor:
Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S. Vijayakar, Jingyi Chen, Joel Ng, Ajay S. Mathuru, Frederique Magdinier, Bruno Reversade
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Hox genes are known to control anteroposterior patterning, including the vertebrate spine. Here Xue et al. show that maternal Smchd1 regulates Hox expression in an epigenetic manner, and that wild type offspring from heterozygous mothers show skeleta
Externí odkaz:
https://doaj.org/article/4b6dee71e17346d4bd2f45a200af55bd
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Autor:
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
Abstract Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non‐coding regions, which make up 98% of the genome, cannot be captured. The lack of functional ann
Externí odkaz:
https://doaj.org/article/921d307af59a483894117f4547a0983f
Autor:
Jenny van Dongen, Scott D. Gordon, Allan F. McRae, Veronika V. Odintsova, Hamdi Mbarek, Charles E. Breeze, Karen Sugden, Sara Lundgren, Juan E. Castillo-Fernandez, Eilis Hannon, Terrie E. Moffitt, Fiona A. Hagenbeek, Catharina E. M. van Beijsterveldt, Jouke Jan Hottenga, Pei-Chien Tsai, BIOS Consortium, Genetics of DNA Methylation Consortium, Josine L. Min, Gibran Hemani, Erik A. Ehli, Franziska Paul, Claudio D. Stern, Bastiaan T. Heijmans, P. Eline Slagboom, Lucia Daxinger, Silvère M. van der Maarel, Eco J. C. de Geus, Gonneke Willemsen, Grant W. Montgomery, Bruno Reversade, Miina Ollikainen, Jaakko Kaprio, Tim D. Spector, Jordana T. Bell, Jonathan Mill, Avshalom Caspi, Nicholas G. Martin, Dorret I. Boomsma
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
The mechanisms underlying how monozygotic (or identical) twins arise are yet to be determined. Here, the authors investigate this in an epigenome-wide association study, showing that monozygotic twinning has a characteristic DNA methylation signature
Externí odkaz:
https://doaj.org/article/4deb6641205f44abb1762c5892e3dccd
Autor:
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Shwachman-Diamond syndrome (SDS) is a leukemia predisposition disorder that is caused by defective release of eIF6 during ribosome assembly. Here the authors show that acquired somatic EIF6 mutations are frequent in the hematopoietic cells from indiv
Externí odkaz:
https://doaj.org/article/a48dd70c00914ebb83beed70d65306d7