Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Mark A. Durham"'
Autor:
Sameer S Bajikar, Ashley G Anderson, Jian Zhou, Mark A Durham, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Huda Y Zoghbi
Publikováno v:
eLife, Vol 12 (2023)
Loss- and gain-of-function of MeCP2 causes Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. MeCP2 binds methyl-cytosines to finely tune gene expression in the brain, but identifying genes robustly regulated by MeCP2 has been di
Externí odkaz:
https://doaj.org/article/6b82cfcf999546bdac0e75edf2ab2c99
Autor:
Laura A Lavery, Kerstin Ure, Ying-Wooi Wan, Chongyuan Luo, Alexander J Trostle, Wei Wang, Haijing Jin, Joanna Lopez, Jacinta Lucero, Mark A Durham, Rosa Castanon, Joseph R Nery, Zhandong Liu, Margaret Goodell, Joseph R Ecker, M Margarita Behrens, Huda Y Zoghbi
Publikováno v:
eLife, Vol 9 (2020)
Methylated cytosine is an effector of epigenetic gene regulation. In the brain, Dnmt3a is the sole ‘writer’ of atypical non-CpG methylation (mCH), and MeCP2 is the only known ‘reader’ for mCH. We asked if MeCP2 is the sole reader for Dnmt3a d
Externí odkaz:
https://doaj.org/article/b078fc09c47f4ff18e2e3557478a806d
Autor:
Jian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E. Pohodich, Joanna Lopez, Yingyao Shao, Juan A. Oses-Prieto, Lifang Li, Wonho Kim, Mark A. Durham, Sameer S. Bajikar, Donna J. Palmer, Philip Ng, Michelle L. Thompson, E. Martina Bebin, Amelie J. Müller, Alma Kuechler, Antje Kampmeier, Tobias B. Haack, Alma L. Burlingame, Zhandong Liu, Matthew N. Rasband, Huda Y. Zoghbi
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Loss-of-function mutations in MECP2 cause the neurological disorder Rett syndrome (RTT), but the precise molecular mechanism driving pathogenesis remains unclear. Using an unbiased approach to identify proteins that interact with MeCP2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc790c42da5a7a529acd9fb29046340
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85123905308
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85123905308
Autor:
Stephanie L. Coffin, Mark A. Durham, Larissa Nitschke, Eder Xhako, Amanda M. Brown, Jean-Pierre Revelli, Esmeralda Villavicencio Gonzalez, Tao Lin, Hillary P. Handler, Yanwan Dai, Alexander J. Trostle, Ying-Wooi Wan, Zhandong Liu, Roy V. Sillitoe, Harry T. Orr, Huda Y. Zoghbi
Publikováno v:
Neuron. 111:481-492.e8
Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however, only select populations of cells degenerate. The interaction of polyglutamine-expanded
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d764b8ba9dcb0bfad8b1838a7961f4fe
https://doi.org/10.1016/j.neuron.2022.11.016
https://doi.org/10.1016/j.neuron.2022.11.016
Autor:
Jacinta Lucero, Alexander J. Trostle, Laura A. Lavery, Kerstin Ure, Chongyuan Luo, Margaret A. Goodell, Joseph R. Ecker, Mark A Durham, Wei Wang, Joanna Lopez, Joseph R. Nery, Rosa Castanon, Zhandong Liu, Ying-Wooi Wan, Huda Y. Zoghbi, M. Margarita Behrens
Methylated cytosine is an effector of epigenetic gene regulation. In the mammalian brain, the DNA methyltransferase, Dnmt3a, is the sole “writer” of atypical non-CpG methylation (mCH), and methyl CpG binding protein 2 (MeCP2) is the only known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18e9faae4693e5a218c79e8e8114f09
Autor:
Ethan D. Sperry, Elyse N. Reamer, Adam B. Stein, Mark A. Durham, Donna M. Martin, Elizabeth A. Hurd
Publikováno v:
Developmental Dynamics. 243:1055-1066
Background: Heterozygous mutations in the chromatin remodeling gene CHD7 cause CHARGE syndrome, a developmental disorder with variable craniofacial dysmorphisms and respiratory difficulties. The molecular etiologies of these malformations are not wel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08120313770d924a9d87815a47106607
https://doi.org/10.1002/dvdy.24156
https://doi.org/10.1002/dvdy.24156
Autor:
Ethan D. Sperry, Peter C. Scacheri, Sophia F. Frank, Wanda S. Layman, Jennifer M. Skidmore, Yehoash Raphael, Joseph A. Micucci, Donald L. Swiderski, Donna M. Martin, Mark A. Durham, Elizabeth A. Hurd
Publikováno v:
Human Molecular Genetics. 23:434-448
CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57591c879b96462b2e230bd353d3e010
https://doi.org/10.1093/hmg/ddt435
https://doi.org/10.1093/hmg/ddt435
Autor:
Yongsheng Bai, Amol C. Shetty, Jennifer M. Skidmore, James D. Cavalcoli, Kajari Mondal, Julie B Kaplan, Anthony Antonellis, Charles E. Schwartz, Mark A. Durham, Jun Li, Jirair K. Bedoyan, Cindy Skinner, Valerie M. Schaibley, Donna M. Martin, Michael E. Zwick, Arti Dhiraaj, Joseph A. Micucci, Weiping Peng
Publikováno v:
Journal of Medical Genetics
Background and aim Martin–Probst syndrome (MPS) is a rare X-linked disorder characterised by deafness, cognitive impairment, short stature and distinct craniofacial dysmorphisms, among other features. The authors sought to identify the causative mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ecb6666e066bf3ceddce20b0c2279f
https://doi.org/10.1136/jmedgenet-2011-100575
https://doi.org/10.1136/jmedgenet-2011-100575
Autor:
Bradley R. Foerster, Donna M. Martin, Andrea H. Seeley, Mark Micale, Mark A. Durham, Jeffrey R. Wesolowski
Macrocerebellum is an extremely rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report a child with a distinctive constellation of clinical features including macroce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b220dabceff8a695dc098232e5cb92a3
https://europepmc.org/articles/PMC4266592/
https://europepmc.org/articles/PMC4266592/