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  • *Alternative Splicing  (1)
  • Databases, Genetic  (1)
  • 2005-2009  (2)
  • 1
    Publication Date: 2005-12-17
    Description: The Prader-Willi syndrome is a congenital disease that is caused by the loss of paternal gene expression from a maternally imprinted region on chromosome 15. This region contains a small nucleolar RNA (snoRNA), HBII-52, that exhibits sequence complementarity to the alternatively spliced exon Vb of the serotonin receptor 5-HT(2C)R. We found that HBII-52 regulates alternative splicing of 5-HT(2C)R by binding to a silencing element in exon Vb. Prader-Willi syndrome patients do not express HBII-52. They have different 5-HT(2C)R messenger RNA (mRNA) isoforms than healthy individuals. Our results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kishore, Shivendra -- Stamm, Stefan -- N01-HD-1-3138/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 2006 Jan 13;311(5758):230-2. Epub 2005 Dec 15.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut fur Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universitat Erlangen-Nurnberg, Fahrstrasse 17, 91054 Erlangen, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16357227" target="_blank"〉PubMed〈/a〉
    Keywords: *Alternative Splicing ; Animals ; Cell Line ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, X ; Conserved Sequence ; Exons ; Humans ; Mice ; Prader-Willi Syndrome/*genetics ; Protein Isoforms/genetics ; RNA, Small Nucleolar/*physiology ; Rats ; Receptor, Serotonin, 5-HT2C/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2008-11-01
    Description: 〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953277/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953277/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lopatto, D -- Alvarez, C -- Barnard, D -- Chandrasekaran, C -- Chung, H-M -- Du, C -- Eckdahl, T -- Goodman, A L -- Hauser, C -- Jones, C J -- Kopp, O R -- Kuleck, G A -- McNeil, G -- Morris, R -- Myka, J L -- Nagengast, A -- Overvoorde, P J -- Poet, J L -- Reed, K -- Regisford, G -- Revie, D -- Rosenwald, A -- Saville, K -- Shaw, M -- Skuse, G R -- Smith, C -- Smith, M -- Spratt, M -- Stamm, J -- Thompson, J S -- Wilson, B A -- Witkowski, C -- Youngblom, J -- Leung, W -- Shaffer, C D -- Buhler, J -- Mardis, E -- Elgin, S C R -- 52005790/Howard Hughes Medical Institute/ -- R01 GM031532/GM/NIGMS NIH HHS/ -- R01 GM031532-15A1/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2008 Oct 31;322(5902):684-5. doi: 10.1126/science.1165351.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Grinnell College, Grinnell, Iowa, USA. lopatto@grinnell.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18974335" target="_blank"〉PubMed〈/a〉
    Keywords: Computational Biology ; *Curriculum ; Data Collection ; Databases, Genetic ; *Genetic Research ; Genomics/*education ; Humans ; Publishing ; *Universities
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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