ReviewFrontiers in neurology2021
Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.
Review in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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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
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Manual volumetric segmentation of brain hyperintensities on T2-weighted imaging (T2WI) and fluid-attenuated inversion recovery (FLAIR) sequences in children with neurofibromatosis type 1: inter-rater reliability and clinical correlates.Quantitative imaging in medicine and surgery · 2026Article
- Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities.Journal of applied genetics · 2026Review
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
- Zebrafish neurofibromatosis type 1 mutants show disruption of sleep but not of circadian rhythms.Sleep · 2026Article
- Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.European journal of pediatrics · 2026Article
- Transcriptional mechanisms of hearing acclimatization to high altitude in rats.Scientific reports · 2026Article
- Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1.Endocrinology, diabetes & metabolism case reports · 2026Article
- Neurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report.Case reports in plastic surgery & hand surgery · 2026Article
- Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.Scientific reports · 2025Article
- Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia.Epigenomes · 2025Review
- Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.Orphanet journal of rare diseases · 2025Article
- Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force.Genes & development · 2025Article
- High-content microscopy and machine learning characterize a cell morphology signature ofbioRxiv : the preprint server for biology · 2025Article
- Frequency and Characteristics of Gastrointestinal Diseases in Patients With Neurofibromatosis.JGH open : an open access journal of gastroenterology and hepatology · 2025Article
- Adeno-associated viral vector targeted evolution for neurofibromatosis gene delivery.Trends in molecular medicine · 2025Review
- [Clinical characterization in patients with neurocutaneous syndrome].Revista medica del Instituto Mexicano del Seguro Social · 2025Observational
- Exploring miRNA therapies and gut microbiome-enhanced CAR-T cells: advancing frontiers in glioblastoma stem cell targeting.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- 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
- Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.Biomedicines · 2025Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance. NF1 patients show high phenotypic variabilities, including cafe-au-lait macules, freckling, or other neoplastic or non-neoplastic features. Understanding the underlying mechanisms of the diversities of clinical symptoms might contribute to the development of personalized healthcare for NF1 patients. Currently, studies have shown that the different types of mutations in the NF1 gene might correlate with this phenomenon. In addition, genetic modifiers are responsible for the different clinical features. In this review, we summarize different genetic mutations of the NF1 gene and related genetic modifiers. More importantly, we focus on the genotype-phenotype correlation. This review suggests a novel aspect to explain the underlying mechanisms of phenotypic heterogeneity of NF1 and provides suggestions for possible novel therapeutic targets to prevent or delay the onset and development of different manifestations of NF1.
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Registered trials
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.