Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Thanh Thao Nguyen Ly"'
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:
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
Autor:
Isabelle S Lucet, Thanh Thao Nguyen Ly, James M. Murphy, Marnie E. Blewitt, Kelan Chen, Alexandra D. Gurzau, Weiwen Dai, Shifeng Xue, Bruno Reversade
Publikováno v:
Journal of biological chemistry, 293(25), 9841-9853. American Society for Biochemistry and Molecular Biology Inc.
Journal of Biological Chemistry
Gurzau, A D, Chen, K, Xue, S, Dai, W, Lucet, I S, Ly, T T N, Reversade, B, Blewitt, M E & Murphy, J M 2018, ' FSHD2-and BAMS-associated mutations confer opposing effects on SMCHD1 function ', Journal of Biological Chemistry, vol. 293, no. 25, pp. 9841-9853 . https://doi.org/10.1074/jbc.RA118.003104
Journal of Biological Chemistry, 293(25), 9841-9853. American Society for Biochemistry and Molecular Biology Inc.
Journal of Biological Chemistry
Gurzau, A D, Chen, K, Xue, S, Dai, W, Lucet, I S, Ly, T T N, Reversade, B, Blewitt, M E & Murphy, J M 2018, ' FSHD2-and BAMS-associated mutations confer opposing effects on SMCHD1 function ', Journal of Biological Chemistry, vol. 293, no. 25, pp. 9841-9853 . https://doi.org/10.1074/jbc.RA118.003104
Journal of Biological Chemistry, 293(25), 9841-9853. American Society for Biochemistry and Molecular Biology Inc.
Structural maintenance of chromosomes flexible hinge domain-containing 1 (Smchd1) plays important roles in epigenetic silencing and normal mammalian development. Recently, heterozygous mutations in SMCHD1 have been reported in two disparate disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa00bdbf90bf844135f56757c798b8b1
https://pure.amc.nl/en/publications/fshd2-and-bamsassociated-mutations-confer-opposing-effects-on-smchd1-function(fd62d00f-5ca9-4117-b10e-9c8ed3d3195e).html
https://pure.amc.nl/en/publications/fshd2-and-bamsassociated-mutations-confer-opposing-effects-on-smchd1-function(fd62d00f-5ca9-4117-b10e-9c8ed3d3195e).html
Autor:
Fatma Gumruk, Guoliang Chai, Bertrand Boisson, Natalia Ordonez, Ricardo Moreno Traspas, Maha S. Zaki, Stephanie Efthymiou, Dana Hasbini, Sze Hwee Seet, Thanh Thao Nguyen Ly, Jean-Laurent Casanova, Tadahiro Mitani, Michael Maier, Danielle Sng, Pelin Ozlem Simsek-Kiper, Davut Pehlivan, Hülya Kayserili, James R. Lupski, Nese Yarali, Kornelia Tripolszki, Abigail Loh, Hui Hui Wong, Robert J. Isfort, Joshua J. Coon, Sedat Işıkay, Frederic Bard, Ece Cepni, Evgenia Shishkova, Charles C. Bascom, Chao Liang, Afaf Alsubhi, Bruno Reversade, Nurten A. Akarsu, Tze Shin Teoh, Jarred W. Rensvold, Nima Rezaei, Soh Sok Keng, David J. Pagliarini, Serdar Ceylaner, Naser Gilani, Lena Ho, Fatima Megala Nathan, Siew Chin Choo, Hamdi Mbarek, Crystal Y. Chia, Wafaa Eyaid, Ozlem Arman-Bilir, Reza Maroofian, Simin Seyedpour, Kortessa Sotiropoulou, Joseph G. Gleeson, Peter Bauer, Arda Cetinkaya, Beril Talim, Fernanda L. Sirota, Sule Unal, Ghamar Taj Khotaei, Sebastian Maurer-Stroh, Franziska Paul, Shan Zhang, Elanur Yılmaz, Ayse Gurel, Shifeng Xue, Henry Houlden, Ajay S. Mathuru, Myriam Chaabouni, Aida M. Bertoli-Avella, Candice Lainé, Cheryl Yi-Pin Lee, Danai Georgiadou, Nur Ain Ali, Deniz Uğurlu Çi̇men
Publikováno v:
American journal of human genetics, 108(7), 1301-1317. Cell Press
Am J Hum Genet
Am J Hum Genet
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy wit
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