DDX3X Support UK

48 posts

DDX3X Support UK

DDX3X Support UK

@ddx3xsupportuk

If you're a parent/carer please join our closed FB group, DDX3X Support UK, for support, chats and information with other UK and European parents/carers

Katılım Mart 2017
32 Takip Edilen67 Takipçiler
DDX3X Support UK retweetledi
Lizzie Radford
Lizzie Radford@Radford_EJ·
@HongkeeT @mehurles @GeretySebastian @gregfindlaylab @lea_starita @JShendure 17. In summary, this map of DDX3X variant effects is highly informative for NDD and cancer, despite being made in a cell type of minimal pathophysiological relevance. This suggests that, for DDX3X, pathogenic variation is protein-intrinsic with minimal cell context dependency.
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DDX3X Support UK retweetledi
Lizzie Radford
Lizzie Radford@Radford_EJ·
@HongkeeT @mehurles @GeretySebastian @gregfindlaylab @lea_starita @JShendure 9. 99.5% of nonsense variants predicted to undergo NMD, 49% of codon deletions and 16% of missense variants were depleted in our assay. 92% of depleted missense variants were in the helicase domains or Q motif. Depleted codon deletions were also highly enriched in these domains.
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DDX3X Support UK retweetledi
Lizzie Radford
Lizzie Radford@Radford_EJ·
@HongkeeT @mehurles @GeretySebastian 2. Loss of function variants in DDX3X are the most common monogenic cause of neurodevelopmental disorders (NDD) in females. Somatic DDX3X mutations are known drivers of diverse cancer types, but whether DDX3X acted as a tumour suppressor or an oncogene was unclear.
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DDX3X Support UK retweetledi
Lizzie Radford
Lizzie Radford@Radford_EJ·
@HongkeeT @mehurles @GeretySebastian @gregfindlaylab @lea_starita @JShendure 5. DDX3X is essential for HAP1 cell growth. Therefore, to identify which genetic variants impair the function DDX3X we compared the relative abundance of the different genetic variants in culture over 3 weeks. Variants which impair the function of DDX3X become depleted over time.
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DDX3X Support UK retweetledi
Lizzie Radford
Lizzie Radford@Radford_EJ·
@HongkeeT @mehurles @GeretySebastian @gregfindlaylab @lea_starita @JShendure 14. Our modelling suggests that using these data in clinical variant classification will reduce the number of VUS in DDX3X by up to 93%. Supplementary data 6 contains predictions of NDD-relevance for all variants, and is intended for use in clinical variant classification.
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DDX3X Support UK retweetledi
Lizzie Radford
Lizzie Radford@Radford_EJ·
@HongkeeT @mehurles @GeretySebastian @gregfindlaylab @lea_starita @JShendure 16. SGE-depleted variants are over-represented in somatic mutations in cancer types where DDX3X is a driver. Depleted variants can account for almost all of the excess of DDX3X mutations in medulloblastoma. Together this suggests that DDX3X functions as a tumour suppressor.
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DDX3X Support UK retweetledi
ShorterLab
ShorterLab@ShorterLab·
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation: nature.com/articles/s4146…
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