Title RAS pathway and disease : neurofibromatosis and beyond / Eric Legius

Published London : Henry Stewart Talks, 2014

Online access available from: HSTalks Biomedical & Life Sciences Collection    View Resource Record

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Description 1 online resource (1 streaming video file (45 min.) : color, sound) Series Molecular genetics of human disease, 2056-452X Henry Stewart talks. Biomedical & life sciences collection. Molecular genetics of human disease Contents Contents: Neurofibromatosis type 1 (NF1) -- NIH diagnostic criteria (Seven criteria for NF1) -- NF1 and the RAS pathway -- NF1 tumour biology -- Neurofibromin deficiency -- Two types of neurofibromas -- Plexiform neurofibroma in the neck and mouth -- Mechanisms of disease -- Mouse models of neurofibroma formation -- Imatinib mesylate treatment -- Clinical aspects of glomus tumours of fingertips -- Gastrointestinal stromal tumours -- MPNST in NF1 -- FDG-PET as a diagnostic tool -- Hotspots for recombination & NF1 microdeletion -- SUZ12-loss -- Cafe-au-lait (CAL) macules -- Skeletal defects in NF1 -- Learning disabilities in NF1 -- Simvastatin treatment for cognitive deficits -- Mosaicism for NF1 mutation -- Diagnostic problems -- SPRED1 mutations & molecular mechanism of Legius syndrome -- The RAS pathway proteins & genetic syndromes (RASopathies) Notes Animated audio-visual presentation with synchronized narration Title from title frames Mode of access: World Wide Web System requirements: Browser compatibility: updated Mozilla Firefox, Google Chrome, Safari or Internet Explorer 8+. Browser settings: enable JavaScript, enable cookies from the Henry Stewart Talks site. Required Desktop Browser plugins & viewers: Updated Adobe Flash Player & Adobe Acrobat Reader. Mobile device & operating system versions: Android v4.0+, iPhone 4+ (iOS v6.x+), iPad 2+ (iOS v6.x+), BlackBerry OS v7.0+, Windows Phone v6.5.1+ Subject Neurofibromatosis. Ras proteins. Cafe-au-Lait Spots -- genetics. Genetic Diseases, Inborn -- genetics. Genetic Diseases, Inborn -- physiopathology. Neurofibroma, Plexiform. Neurofibromatoses. Neurofibromatosis 1. ras Proteins -- genetics. ras Proteins -- metabolism. Genre/Form Video recordings. Form Streaming video

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