Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Mona D. Shahbazian"'
Publikováno v:
Neurobiology of Disease, Vol 8, Iss 6, Pp 974-981 (2001)
The expansion of a polyglutamine tract in the ataxin-1 protein beyond a critical threshold causes spinocerebellar ataxia type 1 (SCA1). To investigate the mechanism of neuronal degeneration in SCA1, we analyzed the phenotype of an SCA1 transgenic mou
Externí odkaz:
https://doaj.org/article/5d6497113e084435a2c8109042dabf27
Autor:
Michael Grunstein, Mona D. Shahbazian
Publikováno v:
Annual Review of Biochemistry. 76:75-100
Histone acetylation regulates many cellular processes, and specific acetylation marks, either singly or in combination, produce distinct outcomes. For example, the acetylation pattern on newly synthesized histones is important for their assembly into
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7497c07978be848518139a86bc7af7
https://doi.org/10.1146/annurev.biochem.76.052705.162114
https://doi.org/10.1146/annurev.biochem.76.052705.162114
Autor:
Catherine M. Watson, Mona D. Shahbazian, Tatiana Radziewic, Patrick P.L. Tam, Gregory J. Pelka, Sarah L. Williamson, John Christodoulou
Publikováno v:
Human Molecular Genetics. 14:1851-1861
Rett syndrome (RTT) is an X-linked disorder caused by mutations in the methyl CpG binding protein 2 (MECP2) gene. The pattern of X-chromosome inactivation (XCI) is thought to play a role in phenotypic severity. In the present study, patterns of XCI w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51cbf48a917f67a0eefdd7b96d4e07cf
https://doi.org/10.1093/hmg/ddi191
https://doi.org/10.1093/hmg/ddi191
Publikováno v:
American Journal of Medical Genetics. 111:238-242
Rett syndrome (RTT) is classically defined by meeting certain clinical diagnostic criteria. It affects mostly females, and one possible pathogenic mechanism was considered to involve mitochondrial function. This was based on the finding of ultrastruc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb7ad81c524eac9819039dfe1deefd2
https://doi.org/10.1002/ajmg.10633
https://doi.org/10.1002/ajmg.10633
Autor:
Mona D. Shahbazian, Barbara Antalffy, Corinne M. Spencer, Huda Y. Zoghbi, Richard Paylor, Lisa A. Yuva-Paylor, Dawna L. Armstrong, Jeffrey L. Noebels, Juan I. Young
Publikováno v:
Neuron. 35(2):243-254
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), a neurodevelopmental disorder characterized by the loss of language and motor skills during early childhood. We generated mice with a truncating mutation similar to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb0707af49bf188de480fd49ae0b927
Publikováno v:
Cancer Research. 77:4648-4648
Introduction In non-small cell lung cancer (NSCLC), chromosomal translocation events that result in overactivation of the anaplastic lymphoma kinase (ALK) have been identified and shown to play a key role in tumorigenesis. Inhibitors of the ALK kinas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3f7cc866f586f5c317befacb9ba41de
https://doi.org/10.1158/1538-7445.am2017-4648
https://doi.org/10.1158/1538-7445.am2017-4648
Autor:
Mona D. Shahbazian, Huda Y. Zoghbi
Publikováno v:
Current Opinion in Neurology. 14:171-176
Rett syndrome, a neurodevelopmental disorder that is a leading cause of mental retardation in females, is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). MECP2 mutations have subsequently been identified in pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37b1a7faa02458d31e325eefe7459ee
https://doi.org/10.1097/00019052-200104000-00006
https://doi.org/10.1097/00019052-200104000-00006
Autor:
Mona D. Shahbazian, Kara L. Norman, Suzy Van Le, Aron Lau, Mahjabeen Yucekul, Patty Chiang, Nakul Nataraj
Publikováno v:
Cancer Research. 75:4900-4900
Introduction: Application of targeted NGS assays to comprehensively screen cancer genes has highlighted the need for a well-characterized control to ensure consistency in variant calls. CLIA and CAP guidelines mandate that labs utilize positive run c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63cd53240ea9a8b680aaacfe96662303
https://doi.org/10.1158/1538-7445.am2015-4900
https://doi.org/10.1158/1538-7445.am2015-4900
Publikováno v:
American journal of medical genetics. 111(2)
In Rett syndrome (RTT), an X-linked disorder essentially limited to females, neurological development goes awry. Causing this disarray in neuronal function is a mutated form of a protein known as methyl-CpG-binding protein 2 (MeCP2). Because the MECP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e18a92194d0378437e3e80e107cb334
https://pubmed.ncbi.nlm.nih.gov/12210344
https://pubmed.ncbi.nlm.nih.gov/12210344
Publikováno v:
Human molecular genetics. 11(2)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Previous data have shown that MECP2 RNA is present in all mouse and human tissues tested, but the timing of expression and regi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e0cf699eea866e41f35694afbeb214
https://pubmed.ncbi.nlm.nih.gov/11809720
https://pubmed.ncbi.nlm.nih.gov/11809720