ReviewBioscience reports2012
Alternative splicing of the neurofibromatosis type I pre-mRNA.
Review in Bioscience reports, 2012. 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 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.
- Neurofibromin Encoded by theInternational journal of molecular sciences · 2025Article
- Bibliometric Overview on T-Cell Intracellular Antigens and Their Pathological Implications.Biology · 2024Review
- T-Cell Intracellular Antigen 1-Like Protein in Physiology and Pathology.International journal of molecular sciences · 2022Review
- Review
- Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2021Article
- Article
- Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation.Scientific reports · 2021Article
- Case Report: A Synonymous Mutation inFrontiers in genetics · 2021Article
- Assessment of Mosaicism and Detection of Cryptic Alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 andFrontiers in genetics · 2021Article
- Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR.Cell reports · 2020Article
- Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.Orphanet journal of rare diseases · 2019Article
- Characterization of early communicative behavior in mouse models of neurofibromatosis type 1.Autism research : official journal of the International Society for Autism Research · 2018Article
- Identification of SETD2-NF1 fusion gene in a pediatric spindle cell tumor with the chromosomal translocation t(3;17)(p21;q12).Oncology reports · 2017Article
- Immortalization of human normal and NF1 neurofibroma Schwann cells.Laboratory investigation; a journal of technical methods and pathology · 2016Article
- Alternative splicing of TIA-1 in human colon cancer regulates VEGF isoform expression, angiogenesis, tumour growth and bevacizumab resistance.Molecular oncology · 2015Article
- Structure-guided U2AF65 variant improves recognition and splicing of a defective pre-mRNA.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neurons.Molecular and cellular biology · 2014Article
- CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease.Molecular and cellular neurosciences · 2013Review
- Oncogenic alternative splicing switches: role in cancer progression and prospects for therapy.International journal of cell biology · 2013Review
- Alternative splicing and its impact as a cancer diagnostic marker.Genomics & informatics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
NF1 (neurofibromatosis type I) is a common genetic disease that affects one in 3500 individuals. The disease is completely penetrant but shows variable phenotypic expression in patients. NF1 is a large gene, and its pre-mRNA undergoes alternative splicing. The NF1 protein, neurofibromin, is involved in diverse signalling cascades. One of the best characterized functions of NF1 is its function as a Ras-GAP (GTPase-activating protein). NF1 exon 23a is an alternative exon that lies within the GAP-related domain of neurofibromin. This exon is predominantly included in most tissues, and it is skipped in CNS (central nervous system) neurons. The isoform in which exon 23a is skipped has 10 times higher Ras-GAP activity than the isoform in which exon 23a is included. Exon 23a inclusion is tightly regulated by at least three different families of RNA-binding proteins: CELF {CUG-BP (cytosine-uridine-guanine-binding protein) and ETR-3 [ELAV (embryonic lethal abnormal vision)-type RNA-binding protein]-like factor}, Hu and TIA-1 (T-cell intracellular antigen 1)/TIAR (T-cell intracellular antigen 1-related protein). The CELF and Hu proteins promote exon 23a skipping, while the TIA-1/TIAR proteins promote its inclusion. The widespread clinical variability that is observed among NF1 patients cannot be explained by NF1 mutations alone and it is believed that modifier genes may have a role in the variability. We suggest that the regulation of alternative splicing may act as a modifier to contribute to the variable expression in NF1 patients.
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