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Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1. [PDF]
Zhao F, Yue X, Wang G, Zhang H.
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Acneiform rash secondary to trametinib in two patients with neurofibromatosis. [PDF]
Nougues M +4 more
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Prolonged Mitogen-Activated Protein Kinase Kinase (MEK) Inhibition Induces Increase in Proteolysis and Compensatory Phosphorylation of MEK and Protein Kinase B (AKT) in Plexiform Neurofibroma Cells. [PDF]
Ji K +3 more
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5-HT6 receptors: Contemporary views on their neurobiological and pharmacological relevance in neuropsychiatric disorders. [PDF]
Chagraoui A +2 more
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Novel humanized loss-of-function NF1 mouse model of juvenile myelomonocytic leukemia. [PDF]
Sinha R +12 more
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Neurofibromin: a general outlook
Clinical Genetics, 2006Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions, including association to microtubules and participation in several signaling pathways.
Eloiza H Tajara
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The Mechanism of Ras GTPase Activation by Neurofibromin
Biochemistry, 2003Individual rate constants have been determined for each step of the Ras.GTP hydrolysis mechanism, activated by neurofibromin. Fluorescence intensity and anisotropy stopped-flow measurements used the fluorescent GTP analogue, mantGTP (2'(3')-O-(N-methylanthraniloyl)GTP), to determine rate constants for binding and release of neurofibromin. Quenched flow
Phillips, Robert A.; id_orcid 0000-0001-6308-5054 +3 more
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Neurofibromin in Skeletal Development
2015Skeletal complications are frequent in neurofibromatosis type 1 (NF1). Various skeletal manifestations are observed including generalized osteopenia (low bone mass), scoliosis, long bone bowing, pseudarthrosis, bone lytic lesions, and sphenoid wing dysplasia.
Mateusz Kolanczyk, David A. Stevenson
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