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Streaming video
Author Legius, Eric, (University of Leuven, BE), speaker

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