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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
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
TranscriptomicsGene profiles of pathway interference downstream neurofibromin signaling
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 | E-GEOD-39764 | biostudies-arrayexpress
TranscriptomicsAffymetrix SNP array data for NF1-associated glioma risk
We performed whole genome SNP profiling on DNA samples from 236 patients with NF1, 123 with glimoa tumors and 113 without; 117 females and 119 males, together with 29 control samples. To identify polymorphisms in human adenylate cyclase 8 (AC8) which correlate with glioma risk in NF1 in a sex-speci...
ORGANISM(S): Homo sapiens 
2015-02-20 | E-GEOD-62215 | biostudies-arrayexpress
TranscriptomicsExpression data from breast cancer cells overexpressing NF1-C2
NF1-C2 suppresses tumorigenesis and epithelial-to-mesenchymal transition by repressing FoxF1. We used microarray to identify direct targets for NF1-C2. The human breast tumor cell line MDA-MB-436 were stably transfected with an expression plasmid including NF1-C2. RNA from these cells and wildtype c...
ORGANISM(S): Homo sapiens 
2010-03-09 | E-GEOD-17636 | biostudies-arrayexpress
ProteomicsCell autonomous requirement of Neurofibrimin (Nf1) for postnatal muscle hypertrophic growth and metabolic homeostasis
Background Neurofibromatosis type 1 (NF1) is a multi-organ disease caused by mutations in Neurofibromin (NF1). Amongst other features, NF1 patients frequently show reduced muscle mass and strength, impairing patients’ mobility and increasing the risk of fall. The role of Nf1 in muscle and the cause ...
ORGANISM(S): Mus musculus (Mouse) 
2020-10-26 | PXD017958 | Pride
Myopathy Muscle atrophy Neurofibromatosis Muscle metabolism Muscle fiber type 
GenomicsLactiplantibacillus plantarum subsp. plantarum strain:nF1-FD
Lactobacillus plantarum subsp. plantarum nF1-FD Genome sequencing and assembly
PRJNA421847 | ENA
ProteomicsProximity labeling of NF1 using APEX
The goal of the study was to profile protein interaction neighborhood of NF1 by expressing NF1-APEX and profiling biotinylated proteins in proximity of NF1. Interactions were assessed at basal conditions or in the context of MEK inhibition with selumetinib.
ORGANISM(S): Homo sapiens (Human) 
2025-06-17 | PXD064557 | Pride
Apex Nf1 Selumetinib 
ProteomicsNF1-depleted ER+ breast cancers are differentially sensitive to CDK4/6 inhibitors
Neurofibromin/NF1-depletion (NF1low) is associated with endocrine therapy resistance in approximately 20% of ER+/HER2– early-stage breast cancer but specific treatments for NF1low tumors are not established. Proteogenomic analyses on ER+/HER2– breast cancer demonstrated that NF1low tumors exhibit e...
ORGANISM(S): Homo sapiens (Human) 
2025-12-15 | PXD052290 | Pride
Nf1 Neurofibromin 1 Cdk4 Raf Breast cancer Estrogen receptor 
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