Zobrazeno 1 - 7
of 7
pro vyhledávání: '"N. C. Schanen"'
Autor:
M. Kendall, M. Erenstheyn, Arthur W. English, Sung Ok Yoon, Christopher J. Donnelly, C. B. Kirn-Safran, Mei Xu, N. C. Schanen, Jeffery L. Twiss, Chhavy Tep, Gary J. Bassell, Dianna E. Willis
Publikováno v:
The Journal of Neuroscience. 31:14481-14487
Axonal mRNA transport is robust in cultured neurons but there has been limited evidence for thisin vivo. We have used a genetic approach to test forin vivoaxonal transport of reporter mRNAs. We show that β-actin's 3′-UTR can drive axonal localizat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30569990be013c3ed0f0c356c3e2bfdf
https://doi.org/10.1523/jneurosci.2950-11.2011
https://doi.org/10.1523/jneurosci.2950-11.2011
Autor:
N. J. Wang, David J Wu, N. C. Schanen, Jennette Driscoll, Amber Hogart, Janine M. LaSalle, Karen N. Leung, Roxanne O. Vallero
Publikováno v:
Journal of Medical Genetics. 46:86-93
Chromosome 15q11-13 contains a cluster of imprinted genes essential for normal mammalian neurodevelopment. Deficiencies in paternal or maternal 15q11-13 alleles result in Prader-Willi or Angelman syndromes, respectively, and maternal duplications lea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d910f46f1cbb56b50dac3ffb3ad4aa49
https://doi.org/10.1136/jmg.2008.061580
https://doi.org/10.1136/jmg.2008.061580
Publikováno v:
Journal of Child Neurology. 20:768-778
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebdb3ad2a2236fe534f3a561f0ed541b
https://doi.org/10.1177/08830738050200082801
https://doi.org/10.1177/08830738050200082801
Publikováno v:
Journal of Child Neurology. 20:708-717
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a86a725308c5b8c7ceca4d0d0d7987ad
https://doi.org/10.1177/08830738050200081701
https://doi.org/10.1177/08830738050200081701
Publikováno v:
The American Journal of Human Genetics. 61:634-641
Although familial recurrences of Rett syndrome (RTT) comprise only approximately 1% of the reported cases, it is these cases that hold the key for the understanding of the genetic basis of the disorder. Families in which RTT occurs in mother and daug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a8df47a89af4c43587bed4758611c5
https://doi.org/10.1086/515525
https://doi.org/10.1086/515525
Publikováno v:
American journal of medical genetics. 78(2)
The gene for the gastrin-releasing peptide receptor (GRPR) has been mapped to a candidate region for Rett syndrome (RTT) on the short arm of the X chromosome. The recent report of a translocation that disrupted the gene in an individual with mental r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::91dbfb1013c8e6ba2e56b5faced551ba
https://pubmed.ncbi.nlm.nih.gov/9674911
https://pubmed.ncbi.nlm.nih.gov/9674911
Autor:
Julie R. Jones, I. Munteanu, N. C. Schanen, Simon E. Alfred, Patrick MacLeod, John B. Vincent, Stephen W. Scherer, Takahiro Yamada, Hannes Lohi, M. J. Friez, Berge A. Minassian, Gevork N. Mnatzakanian
Publikováno v:
Nature Genetics. 36:540-540
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7932d905829e90730b7e22cf52aef1eb
https://doi.org/10.1038/ng0504-540b
https://doi.org/10.1038/ng0504-540b