2021年2月24日 · The DEAD-box helicase family member DDX3X (DBX, DDX3) functions in nearly all stages of RNA metabolism and participates in the progression of many diseases, including virus infection, inflammation, intellectual disabilities and cancer.

Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals. Recently Diagnosed?

2020年8月27日 · DDX3X -related neurodevelopmental disorder (DDX3X -NDD) typically occurs in females and very rarely in males. All affected individuals reported to date have developmental delay / intellectual disability ranging from mild to severe; about 50% of affected girls remain nonverbal after age five years.

2021年2月24日 · The DEAD-box helicase family member DDX3X (DBX, DDX3) functions in nearly all stages of RNA metabolism and participates in the progression of many diseases, including virus infection, inflammation, intellectual disabilities and cancer.

2024年12月24日 · DDX3X (DEAD-Box Helicase 3 X-Linked) is a Protein Coding gene. Diseases associated with DDX3X include Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type and X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome. Among its related pathways are Innate Immune System and Toll-like receptor signaling pathway.

2015年11月5日 · In cancer, DDX3 expression has been evaluated in patient samples of breast, lung, colon, oral, and liver cancer. Both tumor suppressor and oncogenic functions have been attributed to DDX3 and are discussed in this review.

DDX3X Syndrome is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy-Walker Syndrome, or a generic developmentally delayed label. It is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments.

2006年7月1日 · DDX3 is a DEAD box RNA helicase with diverse biological functions. Using colony formation assay, our results revealed that DDX3 inhibited the colony formation ability of various tumor cells, and this inhibition might be due to a reduced growth rate caused by DDX3.

2019年9月11日 · Here we show that the induction of stress granules specifically inhibits NLRP3 inflammasome activation, ASC speck formation and pyroptosis. The stress granule protein …

2015年11月5日 · In cancer, DDX3 expression has been evaluated in patient samples of breast, lung, colon, oral, and liver cancer. Both tumor suppressor and oncogenic functions have been attributed to DDX3 and are discussed in this review.