ArticleProceedings of the National Academy of Sciences of the United States of America2023
Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization.
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In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
6.2field-weighted citation impact, top 3% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 30 citations in OpenAlex.
- Relation Between Genotype and Behavioral Phenotype in Children and Adolescents With Neurofibromatosis Type 1.JAACAP open · 2026Article
- Prime Editing-Based Functional Characterization Supports a Likely Pathogenic Interpretation ofGenes · 2026Article
- Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.FEBS open bio · 2026Article
- Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.PloS one · 2026Article
- Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.Breast (Edinburgh, Scotland) · 2025Article
- Review
- Refined genotype-phenotype correlations in neurofibromatosis type 1 patients withJournal of medical genetics · 2025Article
- Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).Acta neuropathologica communications · 2025Review
- Development of an adeno-associated virus vector for gene replacement therapy of NF1-related tumors.Nature communications · 2025Article
- Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.Nature communications · 2025Article
- Colorectal cancer-associated PCBP1 mutations disrupt protein stability in a dominant negative manner.bioRxiv : the preprint server for biology · 2025Article
- A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/- mice.The Journal of clinical investigation · 2025Article
- Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.Protein science : a publication of the Protein Society · 2025Article
- Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular and mitochondrial metabolism.Scientific reports · 2025Article
- Loss of Schwann cell's normal rhythmic core clock gene expression and gain of rhythmic expression of oncogenic driver genes in malignant NF1-associated peripheral nerve sheath tumor.Molecular & cellular oncology · 2025Article
- Unmasking AlphaFold to integrate experiments and predictions in multimeric complexes.Nature communications · 2024Article
- Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.Journal of molecular neuroscience : MN · 2024Article
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 3 institutions in 2 countries.
Lucy C YoungHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.ORCID 0000-0003-2703-2347
Ruby Goldstein de SalazarHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.
Sae-Won HanDepartment of Internal Medicine, Seoul National University Hospital, Seoul 03080, Republic of Korea.ORCID 0000-0003-3275-431X
Zi Yi Stephanie HuangHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.ORCID 0000-0001-6106-8605
Alan MerkNational Cryo-EM Program, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.
Matthew DrewNational Cancer Institute RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.ORCID 0000-0002-3954-6671
Joseph DarlingNational Cryo-EM Program, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.
Vanessa WallNational Cancer Institute RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.ORCID 0000-0002-6972-239X
Reinhard GrisshammerNational Cryo-EM Program, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.
Alice ChengHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.
Madeline R AllisonHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.
Matthew J SaleHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.
Dwight V NissleyNational Cancer Institute RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.ORCID 0000-0001-7523-116X
Dominic EspositoNational Cancer Institute RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.ORCID 0000-0002-9987-1687
Jana OgnjenovicNational Cryo-EM Program, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21702.
Frank McCormickHelen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94153.ORCID 0000-0002-6619-7120
Frederick National Laboratory for Cancer Research · USUniversity of California, San Francisco · USSeoul National University Hospital · KR
Funding
WORK ORDER 126643 B539 EXPAND IC SUITE75N91019D00024 · NIAID · LEIDOS BIOMEDICAL RESEARCH, INC. · PI BRISCOE, LYNN · 2019 to 2025
$3932.6MNew Ways of Targeting K-RasR35CA197709 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MCCORMICK, FRANK PATRICK · 2016 to 2022
$6.7MNCI NIH HHS 75N91019D00024NCI NIH HHS R35 CA197709
Abstract
The majority of pathogenic mutations in the neurofibromatosis type I (
Indexed as
Neurofibromatosis 1Neurofibromin 1DimerizationHumansMutationMutation, MissenseNeurofibromin 1cryo-EMneurofibromatosis type INFI
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC-ND
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.