Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes

Autor: Platon Megagiannis, Yuan Mei, Rachel E. Yan, Lin Yuan, Jonathan J. Wilde, Hailey Eckersberg, Rahul Suresh, Xinzhu Tan, Hong Chen, W. Todd Farmer, Kuwook Cha, Phuong Uyen Le, Helene Catoire, Daniel Rochefort, Tony Kwan, Brian A. Yee, Patrick Dion, Arjun Krishnaswamy, Jean-Francois Cloutier, Stefano Stifani, Kevin Petrecca, Gene W. Yeo, Keith K. Murai, Guoping Feng, Guy A. Rouleau, Trey Ideker, Neville E. Sanjana, Yang Zhou

Publikováno v: Cell Reports, Vol 43, Iss 8, Pp 114637- (2024)

Summary: Reactive changes of glial cells during neuroinflammation impact brain disorders and disease progression. Elucidating the mechanisms that control reactive gliosis may help us to understand brain pathophysiology and improve outcomes. Here, we

Externí odkaz: https://doaj.org/article/85d2608293c54038ac6d9ed11c01f673

Potassium dependent rescue of a myopathy with core-like structures in mouse

Autor: M Gartz Hanson, Jonathan J Wilde, Rosa L Moreno, Angela D Minic, Lee Niswander

Publikováno v: eLife, Vol 4 (2015)

Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber. In this study, we identify a mouse RyR1 model in which heterozygous ani

Externí odkaz: https://doaj.org/article/9743179c702a4abd8f678b58ef8d1e1f

Efficient embryonic homozygous gene conversion via RAD51-enhanced interhomolog repair

Autor: Tobias Kaiser, Qiangge Zhang, Steven Colvin, Ricardo C.H. del Rosario, Jonathan J. Wilde, Martin Wienisch, Tomomi Aida, Guoping Feng, Peimin Qi

Publikováno v: Cell

Searching for factors to improve knock-in efficiency for therapeutic applications, biotechnology, and generation of non-human primate (NHP) models of disease, we found that the strand exchange protein RAD51 can significantly increase Cas9-mediated ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdedf4e2c61ef8ec851800f3d0c4d92d
https://doi.org/10.1016/j.cell.2021.04.035

Efficient Zygotic Genome Editing via RAD51-Enhanced Interhomolog Repair

Autor: Martin Wienisch, Guoping Feng, Qiangge Zhang, Jonathan J. Wilde, Tomomi Aida, Peimin Qi

Recent advances in genome editing have greatly improved knock-in (KI) efficiency1–9. Searching for factors to further improve KI efficiency for therapeutic use and generation of non-human primate (NHP) models, we found that the strand exchange prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c05e58893bc8694c122a297cdddd46

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Autor: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz

Publikováno v: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular genetics

Cornelia de Lange syndrome (CdLS) is amultisystemgenetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfe
https://doi.org/10.1093/hmg/ddu002