RAS pathway and disease [electronic resource] : neurofibromatosis and beyond / Eric Legius.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Molecular genetics of human disease: Publisher: London : Henry Stewart Talks, 2014Description: 1 online resource (1 streaming video file (45 min.) : color, sound)Subject(s): 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 -- metabolismOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
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).
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Mode of access: World Wide Web.