Chinese case of Nakajo–Nishimura syndrome with a novel mutation of the PSMB 8 gene
Author:
Affiliation:
1. Department of Dermatology Beijing Children's Hospital Capital Medical University BeijingChina
2. Department of Dermatology Liaocheng People's Hospital and Clinical School of Taishan Medical University Liaocheng China
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.14679
Reference5 articles.
1. Nakajo-Nishimura Syndrome: An Autoinflammatory Disorder Showing Pernio-Like Rashes and Progressive Partial Lipodystrophy
2. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
3. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
4. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
5. Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management
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3. Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome;Stem Cells Translational Medicine;2020-10-14
4. High-throughput Screening with Pluripotent Stem Cells Identifies CUDC-907 as an Effective Compound for Restoring the Proinflammatory Phenotype of Nakajo-Nishimura Syndrome;2020-06-02
5. The Proteasome System in Health and Disease;Proteostasis and Disease;2020
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