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Privacy-aware community infrastructureYurimi Lee, Jiyoung Song, Sungbin An, Jae-Min Choi, Minjung Sung, Kyeong-Tae Lee, Sung Wook Seo, Mi-Sook Lee, So Young Lim, Yoon‐La Choi
Abstract
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Neurofibromatosis: Molecular Pathogenesis and Natural Compounds as Potential Treatments
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Provenance
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
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Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
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Serine 392 phosphorylation modulates p53 mitochondrial translocation and transcription-independent apoptosis
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Ser392 phosphorylation modulated a switch between p53 and transcriptional condensates
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Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas
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The RASopathies
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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
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Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1
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No additional external references are available.