Tuesday, February 25, 2014

new NF1 case stumbled upon!

As if things were not enough today a case of metastatic Head and neck cancer with vertebral involvement showed up, the interest in abnormality in G-proteins and may be the SProuty2 may be growing.
what does the NF-1 gene has to do with these propensity to Neoplasm. The patient had severe bipolar syndrome!

Its mutation release cell control through removal of RAS regulation, growth becomes uncontrolled.
Its ATPase shape affects deeply activity of the G-proteins.
Mutation in NF1 seems to be a trigger to EGFR expression (and erbB2) and may contribute to mass formation, in other words, recuperation of some embryonal fucntion is at the basis of tumor formation
?those with NF-1 Mutation becomes sensitive to anti-EGFR inhibition?
NF-1 mutation is also cause for over expression of Insulin Growth Factor Receptor and associated EMA/GLUT-1, and CD34 particularly on Fibroblasts, and S-100. (identifying several bio-markers and detection, may be prognosis in several research pertaining to NF-1)

other genes involved
Snx5
MIB-1
Neur2
Zath1
E2, DPK and DIP
Delta and the Notch

reference

Mind Bomb Is a Ubiquitin Ligase that Is Essential for Efficient Activation of Notch Signaling by Delta

Motoyuki Itoh1Ch

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and into the details of negative activity


The mechanism of growth-inhibitory effect of DOC-2/DAB2 in prostate cancer. Characterization of a novel GTPase-activating protein associated with N-terminal domain of DOC-2/DAB2.

Wang Z1,

all these identify new targets?
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