Results 31 to 40 of about 296 (112)

Mouse Models of Neurofibromatosis 1 and 2

open access: yesNeoplasia: An International Journal for Oncology Research, 2002
The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj   +1 more source

NF1 (neurofibromin 1) [PDF]

open access: yesAtlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +1 more source

Neurofibromin as a regulator of melanocyte development and differentiation [PDF]

open access: yesJournal of Cell Science, 2008
Patients with the genetic disease type I neurofibromatosis (NF1) exhibit characteristic pigmentary lesions associated with loss of a single allele of NF1, encoding the 260 kDa protein neurofibromin. To understand the basis for these pigmentary problems, the properties of melanocytes haploinsufficient for the murine gene Nf1 were studied using Nf1 ...
Ganesh, Diwakar   +3 more
openaire   +2 more sources

Nuclear Isoforms of Neurofibromin Are Required for Proper Spindle Organization and Chromosome Segregation

open access: yesCells, 2020
Mitotic spindles are highly organized, microtubule (MT)-based, transient structures that serve the fundamental function of unerring chromosome segregation during cell division and thus of genomic stability during tissue morphogenesis and homeostasis ...
Charoula Peta   +4 more
doaj   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

NF1 (neurofibromin 1) [PDF]

open access: yesAtlas of Genetics and Cytogenetics in Oncology and Haematology, 2010
Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +2 more sources

Von recklinghausen disease: one patient – various problems

open access: yesBalkan Journal of Medical Genetics, 2016
von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves
Bergler-Czop B   +2 more
doaj   +1 more source

A Conserved Circadian Function for the Neurofibromatosis 1 Gene

open access: yesCell Reports, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Lei Bai   +10 more
doaj   +1 more source

New Treatment Strategy and Future Research Direction for BRAF‐Mutated Cancer

open access: yesCancer Science, EarlyView.
Treatment with BRAF inhibitor plus MEK inhibitor is currently used in BRAF‐mutated various malignancies except colorectal cancer, and treatments with BRAF and/or MEK inhibitors and anti‐EGFR antibody are used in BRAF‐mutated colorectal cancer. Despite recent advances in BRAF‐targeted therapies, their efficacy is still limited.
Masanobu Takahashi   +2 more
wiley   +1 more source

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