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Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signalling. Besides neuroectodermal malformations and tumours, the skeletal system is often affected (e.g. scoliosis and long bone dy...
ORGANISM(S): Mus musculus 
Phillips2003 - The Mechanism of Ras GTPase Activation by Neurofibromin A mathematical model for Ras-GTP activation by neurofibromin and the kinetic rates of the relevant reactions. This model is described in the article: The mechanism of Ras GTPase activation by neurofibromin. Ph...
2024-09-02 | BIOMD0000000692 | BioModels
Malignant peripheral nerve sheath tumor (MPNST) is a type of soft tissue sarcoma that occurs in carriers of mutations in the neurofibromatosis type I gene (Nf1) as well as sporadically. Plexiform neurofibromas in NF1 patients have a significant risk of developing into MPNSTs leading to increased mor...
ORGANISM(S): Homo sapiens 
Neurofibromin (NF1) is a fundamental inhibitor of cell growth that is conserved from yeast to humans. NF1 negatively regulates oncogenic RAS proteins by accelerating the hydrolysis of RAS-bound GTP. This activity blocks growth factor signalling upstream of both mitogen-activated protein kinase (MAPK...
ORGANISM(S): Homo sapiens (Human) 
2022-08-12 | PXD023593 | Pride
Neurofibromin is an Estrogen Receptor alpha Transcriptional Co-repressor in Breast cancer
We report that neurofibromin, a tumor suppressor and Ras-GAP (GTPase Activating Protein), is also an estrogen receptor-alpha (ER) transcriptional co-repressor through leucine/isoleucine-rich motifs that are functionally independent of GAP activity. GAP activity, in turn, does not impact ER binding. ...
ORGANISM(S): Homo sapiens 
2020-02-14 | GSE142479 | GEO
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signalling. Besides neuroectodermal malformations and tumours, the skeletal system is often affected (e.g. scoliosis and long bone dy...
ORGANISM(S): Mus musculus 
2011-05-18 | GSE29343 | GEO
Malignant peripheral nerve sheath tumor (MPNST) is a type of soft tissue sarcoma that occurs in carriers of mutations in the neurofibromatosis type I gene (Nf1) as well as sporadically. Plexiform neurofibromas in NF1 patients have a significant risk of developing into MPNSTs leading to increased mor...
ORGANISM(S): Homo sapiens 
2013-03-15 | GSE39764 | GEO
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