TY  - ADVS
AU  - Legius,Eric
TI  - RAS pathway and disease: neurofibromatosis and beyond 
T2  - Molecular genetics of human disease,
PY  - 2014///
CY  - London
PB  - Henry Stewart Talks
KW  - Neurofibromatosis
KW  - Ras proteins
KW  - Cafe-au-Lait Spots
KW  - genetics
KW  - Genetic Diseases, Inborn
KW  - physiopathology
KW  - Neurofibroma, Plexiform
KW  - Neurofibromatoses
KW  - Neurofibromatosis 1
KW  - ras Proteins
KW  - metabolism
N1  - 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); Access restricted to subscribers
UR  - https://hstalks.com/bs/2894/
UR  - https://hstalks.com/bs/p/810/
ER  -