BEGIN:VCALENDAR VERSION:2.0 PRODID:-//wp-events-plugin.com//7.2.3.1//EN BEGIN:VEVENT UID:328@biocityturku.fi DTSTART;TZID=Europe/Helsinki:20180323T093000 DTEND;TZID=Europe/Helsinki:20180323T103000 DTSTAMP:20231013T062129Z URL:https://biocityturku.fi/events/lifespan-seminar-finding-a-novel-rasopa thy-the-legius-syndrome/ SUMMARY:Lifespan seminar: Finding a novel rasopathy – the Legius syndrome DESCRIPTION:Prof. Eric Legius\, MD\, PhD\, Department of Human Genetics\, K U Leuven\, Leuven\, Belgium\n\nHost: Juha Peltonen\n\nCoffee/tea will be s erved at 09:15\n\n \;\n\nDr Eric Legius is a clinician scientist. His research is targeted towards Neurofibromatosis type 1 (NF1) and related co nditions. His group contributed successfully towards the understanding of the molecular etiology of a number of tumours in NF1. The group was also i nvolved in the characterization of the NF1 microdeletion region and they h ave been participating in studies on cognition and behavior in NF1. In 200 7 his research group identified a new condition resembling neurofibromatos is type 1\, now known as Legius syndrome (autosomal dominant condition cau sed by a heterozygous mutation in SPRED1). The group is using animal model s to gain insight in the importance of SPRED and the RAS-MAPK pathway for cognition.\n\nSelected publications\n\nHirata\, Y.\, Brems\, H.\, Suzuki\, M.\, Kanamori\, M.\, Okada\, M.\, Morita\, R.\, Llano-Rivas\, I.\, Ose\, T.\, Messiaen\, L.\, Legius E\, E.\, Yoshimura\, A. (2016). Interaction be tween a domain of a negative regulator of the RAS-ERK pathway\, SPRED1\, a nd the GTPase-Activating Protein-Related Domain of neurofibromin is implic ated in Legius Syndrome and Neurofibromatosis Type 1. Journal of Biologica l Chemistry\, 291 (7)\, art.nr. jbc.M115.703710\, 3124-34.\n\nDenayer E\, Chmara M\, Brems H\, Kievit AM\, van Bever Y\, Van den Ouweland AM\, Van M inkelen R\, de Goede-Bolder A\, Oostenbrink R\, Lakeman P\, Beert E\, Ishi zaki T\, Mori T\, Keymolen K\, Van den Ende J\, Mangold E\, Peltonen S\, B rice G\, Rankin J\, Van Spaendonck-Zwarts KY\, Yoshimura A\, Legius E. (20 11) Legius syndrome in fourteen families. Hum Mutat\, 32(1):E1985-98.\n\nM essiaen L\, Yao S\, Brems H\, Callens T\, Sathienkijkanchai A\, Denayer E\ , Spencer E\, Arn P\, Babovic-Vuksanovic D\, Bay C\, Bobele G\, Cohen BH\, Escobar L\, Eunpu D\, Grebe T\, Greenstein R\, Hachen R\, Irons M\, Kronn D\, Lemire E\, Leppig K\, Lim C\, McDonald M\, Narayanan V\, Pearn A\, Pe derson R\, Powell B\, Shapiro LR\, Skidmore D\, Tegay D\, Thiese H\, Zacka i E\, Vijzelaar R\, Taniguchi K\, Ayada T\, Okamoto F\, Yoshimura A\, Parr et A\, Korf B\, Legius E. (2009) Clinical and mutational spectrum of neuro fibromatosis type 1-like syndrome. JAMA\, 302(19): 2111-2118.\n\nDenayer E \, Ahmed T\, Brems H\, Van Woerden G\, Borgesius NZ\, Callaerts-Vegh Z\, Y oshimura A\, Hartmann D\, Elgersma Y\, D'Hooge R\, Legius E\, Balschun D. (2008) Spred1 is required for synaptic plasticity and hippocampus-dependen t learning. J Neurosci\, 28(53):14443-14449.\n\nBrems H\, Chmara M\, Sahba tou M\, Denayer E\, Taniguchi K\, Kato R\, Somers R\, Messiaen L\, De Sche pper S\, Fryns JP\, Cools J\, Marynen P\, Thomas G\, Yoshimura A\, Legius E. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibro matosis 1-like phenotype. Nat Genet\, 39(9):1120-1126. CATEGORIES:BiocityTurku events LOCATION:#_LOCATIONNAME\, #_LOCATIONFULLLINE\, #_LOCATIONCOUNTRY X-APPLE-STRUCTURED-LOCATION;VALUE=URI;X-ADDRESS=#_LOCATIONFULLLINE\, #_LOCA TIONCOUNTRY;X-APPLE-RADIUS=100;X-TITLE=#_LOCATIONNAME:geo:0,0 END:VEVENT BEGIN:VTIMEZONE TZID:Europe/Helsinki X-LIC-LOCATION:Europe/Helsinki BEGIN:STANDARD DTSTART:20171029T030000 TZOFFSETFROM:+0300 TZOFFSETTO:+0200 TZNAME:EET END:STANDARD END:VTIMEZONE END:VCALENDAR