Neurofibromatosis and Schwannoma Cases

A novel combinatorial treatment for Neurofibromatosis type 1 tumours revealed through cross-species genetic analysis

This paper identifies AZT as a potential therapeutic for NF1 tumors through cross-species genetic analysis and validates its efficacy in human and mouse models.

Comprehensive mapping of Neurofibromin (NF1) expression in developing mouse brain

This study maps NF1 expression in developing mouse brain, revealing graded expression patterns across regions and cell lineages.

NF2 lacking exon 11 isoform induced by antisense gene therapy is able to recover partially merlin deficiency on NF2-related Schwannomatosis iPSC-derived spheroid model

This study shows that antisense gene therapy using PMOs can induce exon 11 skipping in NF2-deficient Schwann cells, partially restoring merlin function and key pathways in a spheroid model of NF2-SWN.

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling

This study investigates how neurofibromin mutations affect metabolic and behavioral traits in Drosophila by analyzing the roles of MEK and Akt/mTOR signaling pathways.

Proof-of-principle of NF1 Gene Therapy in plexiform neurofibroma mice models

This study demonstrates that restoring NF1 gene expression in established neurofibromas can lead to tumor regression in mouse models.

Immortalization and Characterization of Schwann Cell Lines Derived from NF1 Associated Cutaneous Neurofibromas

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

The Cell Surface Proteome of Malignant Peripheral Nerve Sheath Tumors Reveals Therapeutic Targets

This study identifies cell surface proteome changes in MPNSTs due to PRC2 loss, revealing PTK7 as a promising therapeutic target using antibody-drug conjugates.

Interferon signaling underlies radiotherapy responses in malignant peripheral nerve sheath tumors (MPNSTs)

This study identifies interferon signaling as a key mediator of radiotherapy response in MPNSTs, linking it to T-cell recruitment and clinical outcomes.

High-content microscopy and machine learning characterize a cell morphology signature of NF1 genotype in Schwann cells

The paper uses high-content microscopy and machine learning to identify a cell morphology signature of NF1 genotype in Schwann cells, but model performance declines when applied to new cell lines.

Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset

The paper provides an integrated genomic analysis of NF1-associated peripheral nerve sheath tumors using RNAseq and WES data from 73 and 114 samples, respectively, accessible via the NF Data Portal.

Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated Schwann cell proliferation in human.

The paper investigates Merlin's role in NF2-associated Schwann cell proliferation using a hiPSC model and identifies new interaction partners, Arkadia and SKOR2, that mediate SMAD-dependent TGFβ signaling.

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

The CoREST complex is a therapeutic vulnerability in malignant peripheral nerve sheath tumors

This study identifies the LHC repressor complex as a therapeutic target in MPNST, showing that its inhibitor corin induces apoptosis and inhibits proliferation and invasion.

Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

Loss of neurofibromin accelerates uveal and dermal melanoma formation driven by GNAQ

This study shows that Nf1 loss accelerates melanoma formation in mice with GNAQ mutations, highlighting cAMP signaling and its link to MMNSTs.

Early detection of malignant and pre-malignant peripheral nerve tumors using cell-free DNA fragmentomics

This study uses plasma cfDNA fragmentomics to distinguish malignant, pre-malignant, and non-malignant NF1-associated peripheral nerve sheath tumors.

A rapid platform for 3D patient-derived cutaneous neurofibroma organoid establishment and screening

This paper introduces a platform for establishing and screening patient-derived cutaneous neurofibroma organoids to support drug discovery for NF1-associated tumors.

Missense variant interaction scanning reveals a critical role of the FERM-F3 domain for tumor suppressor protein NF2 conformation and function

The paper identifies missense variants in NF2 that affect its conformation and tumor suppressor function through systematic mutational interaction perturbation analysis.

Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors in Diagnosing Schwannomatosis

This study examines diagnostic delays and errors in schwannomatosis using medical records, finding long delays and frequent misdiagnoses linked to non-specific symptoms and missed genetic testing opportunities.

Purinergic receptor P2RY14 cAMP signaling regulates EGFR-driven Schwann cell precursor self-renewal and nerve tumor initiation in neurofibromatosis.

This study identifies P2RY14 as a regulator of cAMP signaling in Schwann cell precursors, showing its role in self-renewal and neurofibroma initiation in NF1 mutant cells.

Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.

Revisiting the UK Genetic Severity Score for NF2: a proposal for adding functional information

The paper validates the UK NF2 Genetic Severity Score in a Spanish cohort and proposes a revised version incorporating functional assays to improve prediction of clinical outcomes for mild and moderate phenotypes.

Distinctive epigenomic alterations in NF1-deficient cutaneous and plexiform neurofibromas drive differential MKK/P38 signaling

This study identifies epigenetic differences between cutaneous and plexiform neurofibromas that drive distinct RAS/MKK/P38 signaling and clinical behavior.

Association between neurofibromatosis type 1 and cerebrovascular diseases in children: a systematic review

This systematic review examines the link between neurofibromatosis type 1 and cerebrovascular diseases in children, finding associations and highlighting the importance of early screening.

Nf1 deletion results in depletion of the Lhx6 transcription factor and a specific loss of parvalbumin+ cortical interneurons

This study shows that Nf1 deletion causes loss of parvalbumin+ cortical interneurons and reduces Lhx6 expression, affecting their development.

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1

The paper uses statistical and machine learning methods to analyze NF1 tumor genomic data, identifying key signaling pathways and molecular features associated with different tumor types and potential drug targets.

Validating indicators of CNS disorders in a swine model of neurological disease

The paper validates CNS-related antibodies in a miniswine model of neurofibromatosis type 1 to support translational research.