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174
datasets available to search
ShareScore release 0.9.0
Dataset results
174 results for “Neurofibromatosis I”
Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1
ClinicalTrials.gov study NCT00754780. IPD Sharing: Not stated. Countries: 0. Publications: 0.
iCanCope With NF: Innovating an Efficacious Digital Self-management and Transitional Care Program for Adolescents With Neurofibromatosis
ClinicalTrials.gov study NCT07077408. IPD Sharing: NO. Countries: 0. Publications: 0.
The Neurofibromatosis-associated Tumor Biobank
ClinicalTrials.gov study NCT03359304. IPD Sharing: NO. Countries: 0. Publications: 0.
An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1
ClinicalTrials.gov study NCT03259633. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Bulk and single cell sequencing of peripheral nervous system tumors in neurofibromatosis
GEO Series GSE212964. Homo sapiens. 72 samples. Type: Expression profiling by high throughput sequencing.
Efficacy and Safety of Tunlametinib in Adults with Inoperable Neurofibromatosis Type 1-Associated Plexiform Neurofibromas: A Single Arm, Open-label Phase IIa Trial and Biomarker Research
GEO Series GSE317549. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Effect of depletion of NCOR2 on gene expression in neurofibromatosis type 1 - associated malignant peripheral nerve sheath tumours
GEO Series GSE201668. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
The 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 7 years of age and are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations. In this study, whole genome sequence analysis was performed on three NF1-associated pilocytic astrocytoma tumors (NF1-PA) and matched normal blood samples to establish the genomic landscape of NF1-PA. These data support the existence of multiple distinct mechanisms (mutation, LOH, and methylation) underlying somatic NF1 inactivation in NF1-PA tumors.
Affymetrix CytoScan® HD Array (SNP and copy number array) used on pseudarthrosis tissue from Neurofibromatosis type 1 individuals
GEO Series GSE95085. Homo sapiens. 4 samples. Type: Genome variation profiling by genome tiling array; Genome variation profiling by SNP array.
Combined CDK inhibition overcomes MEK inhibitor resistance in plexiform neurofibroma of neurofibromatosis type I
GEO Series GSE173577. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Affymetrix OncoScan CN analysis on breast cancer in women affected with Neurofibromatosis type 1
GEO Series GSE115890. Homo sapiens. 11 samples. Type: Genome variation profiling by SNP array.
Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study
In 2012, the Children's Tumor Foundation (CTF) created a web-based patient-entered database, the NF Registry, to inform patients of research opportunities for which they fit general eligibility criteria and enable patients to contact investigators who are seeking to enroll patients in approved trials. Registrants were recruited through CTF-affiliated NF clinics and conferences, through its website, and by word-of-mouth and social media. Following online consent, demographic information and details regarding manifestations of NF were solicited on the Registry website. Statistical analyses were performed on data from a cohort of 4,680 registrants (the number of registrants as of October 9, 2015) who met diagnostic criteria for one of the three NF conditions.
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas
Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder caused by germline mutations in NF1. NF1 patients have an 8-16% lifetime risk of developing a malignant peripheral nerve sheath tumor (MPNST), a highly aggressive soft-tissue sarcoma, often arising from pre-existing benign plexiform neurofibromas (PN) and atypical neurofibromas (ANF). ANF are distinct from both PN and MPNST, representing an intermediate step in malignant transformation. In the first comprehensive genomic analysis of ANF, we performed tumor/normal exome sequencing (ES) of 16 ANFs. In addition, we conducted ES of three MPNSTs, copy-number meta-analysis of 26 ANF and 28 MPNST, and whole transcriptome RNA-seq analysis of five ANF and five MPNST. We identified low mutation burden (median 1, range 0-5) in the exomes of ANF (only NF1 somatic mutations were recurrent), and frequent deletions of CDKN2A/CDKN2B (69%) and SMARCA2(42%) loci. We determined that polycomb repressor complex 2 (PRC2) genes EED or SUZ12 were frequently mutated, deleted or downregulated in MPNST but not in ANF. Our gene expression study revealed upregulated NRAS, MDM2, CCND1/CCND2/CCND3 and CDK4/CDK6 in both ANF and MPNST, and overexpression of EZH2 in MPNST only. We conclude that the PN-ANF transition is primarily driven by the deletion of CDKN2A/CDKN2B in addition to already present inactivated NF1. Further progression from ANF to MPNST likely involves broad chromosomal rearrangements and frequent inactivation of the PRC2 genes, loss of the DNA repair genes, and copy-number increase of signal transduction, cell cycle and pluripotency self-renewal genes.
Murine Neurofibromatosis
GEO Series GSE1482. Mus musculus. 30 samples. Type: Expression profiling by array.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.