Results 141 to 150 of about 21,804 (172)
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Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning

Bone, 2005
Skeletal problems and osteoporosis occur in up to 50% affected neurofibromatosis type 1 (NF1) humans. Inactivation of neurofibromin results in deregulation of Ras signal transduction. Little is known of bone biology in humans with NF1. The goal of our work was to determine if loss-of-function of Nf1 gene was associated with altered bone homeostasis and
X, Yu   +11 more
openaire   +2 more sources

Loss of Neurofibromin in the Leptomeningeal Astroglial Heterotopia of NF-1

Pediatric Neurology, 1998
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF-1) gene, has important roles in tumor suppression or normal embryogenesis. Cerebellar leptomeningeal astroglial heterotopia (LAH) is a proliferation of heterotopic astroglial cells and fibers in the cerebellar leptomeninges, which is characteristically demonstrated in the NF-1 ...
M, Kato   +4 more
openaire   +2 more sources

Neurofibromin-deficient fibroblasts fail to form perineurium in vitro

Development, 1995
ABSTRACT To identify cell type(s) that might contribute to nerve sheath tumors (neurofibromas) in patients with neurofibromatosis type 1, we generated cell cultures containing neurons, Schwann cells and fibroblasts from transgenic mouse embryos in which the type 1 neurofibromatosis gene was disrupted by homologous recombination (Brannan ...
T, Rosenbaum   +6 more
openaire   +2 more sources

Neurofibromin in the brain.

Journal of child neurology, 2003
Neurofibromatosis 1 is one of the most common autosomal dominant disorders affecting the nervous system. Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin.
openaire   +1 more source

Neurofibromin and Neuronal Apoptosis

2003
Abstract : Our purpose is to examine the role of neurofibromin in modulating the survival of embryonic sensory and sympathetic neurons. To understand how reduced neurofibromin levels might impact the survival responses to activity-mediated signaling (mimicked with KCl) and to neurotrophins, we used dissociated cultures of Nf1+/- and exon23a-/- sensory ...
openaire   +1 more source

Review Article : Neurofibromin in the Brain

Journal of Child Neurology, 2002
Neurofibromatosis 1 is one of the most common autosomal dominant disorders affecting the nervous system. Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin.
openaire   +1 more source

Structural basis of activation of the tumor suppressor protein neurofibromin

Molecular Cell, 2022
Sebastiaan Werten   +2 more
exaly  

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