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TranscriptomicsTranscription profiling of human NF1 heterozygous (NF1+/-) melanocytes from a Neurofibromatosis type 1 patient and NF1 wild type (NF1+/+) melanocytes of a healthy control patient
One of the major primary features of the neurocutaneous genetic disorder Neurofibromatosis type 1 are the hyperpigmentary café-au-lait macules where dysregulation of melanocyte development, proliferation and differentiation is considered to play a key etiopathogenic role. To gain better insight in t...
ORGANISM(S): Homo sapiens 
2005-02-05 | E-MEXP-258 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human neurofibromatosis type 1
Genes involved in tumorigenesis associated with neurofibromatosis type 1.
ORGANISM(S): Homo sapiens 
2007-01-12 | E-TABM-69 | biostudies-arrayexpress
TranscriptomicsTherapeutic potential of a novel HSP90 Inhibitor, NXD30001, for Neurofibromatosis type 2
Purpose: The growth and survival of NF2-deficient cells are enhanced by the activation of multiple signaling pathways including ErbB2/IGF-1R/Met, PI3K/Akt, and Ras/Raf/Mek/Erk1/2. The ubiquitously expressed chaperone protein HSP90 is known to be essential for the stabilization of these signaling mol...
ORGANISM(S): Mus musculus 
2013-06-06 | E-GEOD-40187 | biostudies-arrayexpress
TranscriptomicsMEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors, despite transcriptional feedback onto ERK.
Neurofibromatosis Type 1 (NF1) patients develop benign neurofibromas and malignant peripheral nerve sheath tumors (MPNST). These incurable peripheral nerve tumors result from loss of NF1 tumor suppressor gene function, causing hyperactive Ras signaling. Activated Ras controls numerous downstream eff...
ORGANISM(S): Mus musculus 
2012-12-28 | E-GEOD-41747 | biostudies-arrayexpress
TranscriptomicsIntegrative genomic analyses of neurofibromatosis tumors identify SOX9 as biomarker and survival gene
Understanding biological pathways critical for common neurofibromatosis type 1 (NF1) peripheral nerve tumors is essential, as tumor biomarkers, prognostic factors and therapeutics are all lacking. We used gene expression profiling to define transcriptional changes between primary normal Schwann cel...
ORGANISM(S): Homo sapiens 
2009-07-15 | E-GEOD-14038 | biostudies-arrayexpress
TranscriptomicsNeurofibromin (Nf1) is required for skeletal muscle development
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 | E-GEOD-29343 | biostudies-arrayexpress
TranscriptomicsNF1 microdeletions characterization by custom high-resolution array CGH
To allow accute charaterization of NF1 locus constitutional microdeletion in 70 NF1 patients, a custom array CGH was developped. Goal was to obtain genomic rearrangements fine characterization in order to perform genotype-phenotype correlation in NF1 microdeleted patients. To serve as a reference g...
ORGANISM(S): Homo sapiens 
2010-05-26 | E-GEOD-19730 | biostudies-arrayexpress
GenomicsChip of BRD4 in Neurofibromatosis type 2
Chip of BRD4 in Neurofibromatosis type 2
PRJNA704960 | ENA
GenomicsThe genomics of pilocytic astrocytoma formation in neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome is one of the most common autosomal dominant tumor predisposition syndromes in which affected individuals develop brain tumors. These low-grade glial neoplasms (pilocytic astrocytomas) typically arise in children younger than...

phs000563.v1.p1 | EGA
MetabolomicsRevealing Hidden Variables in DESI-based Spatial Metabolomics: Solvent Composition and Tissue Type as Critical Drivers
In the development of a desorption electrospray ionization (DESI) workflow for spatial metabolomics, we investigated the impact of two commonly used solvent systems, 90% acetonitrile (ACN) and 90% methanol (MeOH), on the spatial metabolomic profiling of multiple murine tissues. The performance of bo...
2026-09-11 | MTBLS14771 | MetaboLights
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