ArticleJournal of medical genetics1998
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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
21 citing papers in PubMed, 85 citations in OpenAlex.
- Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1-A Tertiary Center Experience in a Cohort of 118 Children.Diagnostics (Basel, Switzerland) · 2025Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Genotype-Phenotype Associations in Patients With Type-1, Type-2, and AtypicalFrontiers in genetics · 2021Article
- Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.Molecular genetics & genomic medicine · 2020Article
- OneGenes · 2019Article
- Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.Molecular biology reports · 2019Article
- Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?Italian journal of pediatrics · 2018Article
- 126 novel mutations in Italian patients with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2015Article
- Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.Journal of medical genetics · 2013Article
- Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.European journal of human genetics : EJHG · 2012Article
- Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression.Annual review of pathology · 2012Review
- Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1.Clinics (Sao Paulo, Brazil) · 2008Article
- Molecular diagnosis of neurofibromatosis type 1: 2 years experience.Familial cancer · 2007Article
- NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.American journal of human genetics · 2005Article
- C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.American journal of human genetics · 2002Article
- Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.Nucleic acids research · 2000Article
- Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.American journal of human genetics · 2000Article
- Neurology and the skin.Journal of neurology, neurosurgery, and psychiatry · 1999Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is caused by mutations in a tumour suppressor gene located on chromosome 17 (17q11.2). Disease causing mutations are dispersed throughout the gene, which spans 350 kilobases and includes 59 exons. A common consequence of NF1 mutations is introduction of a premature stop codon, and the majority of mutant genes encode truncated forms of neurofibromin. We used a protein truncation assay to screen for mutations in 15 NF1 patients and obtained positive results in 11 of them (73%). Sequencing of cDNA and genomic DNA yielded identification of 10 different mutations, including four splicing errors, three small deletions, two nonsense mutations, and one small insertion. Nine mutations were predicted to cause premature termination of translation, while one mutation caused in frame deletion as a result ofexon skipping. In one other case involving abnormal splicing, five different aberrantly spliced transcripts were detected. One germline nonsense mutation (R1306X, 3916C>T) corresponded to the same base change that occurs by mRNA editing in normal subjects. The second nonsense mutation (R2496X) was the sole germline mutation that has been previously described. The subjects studied represented typically affected NF1 patients and no correlations between genotype and phenotype were apparent. A high incidence of ocular hypertelorism was observed.
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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 Socratic graph.