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Springer Nature1
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Human Genetics1
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20241
J.R. Markello results 1 · Newest (Page 1/1, per page 25)
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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic featuresNARA Subscribed
Human Genetics · 2024 · Vol. 143 · Issue 12 · Springer
Prashant Sharma; Jason R. McFadden; F. Graeme Frost; Thomas C. Markello; Dorothy K. Grange; Wendy J. Introne; William A. Gahl; May Christine V. Malicdan
DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a highly conserved core structure and regulate all aspects of RNA metabolism. The functional role of DDX41 in innate immunity is also highly conserved. DDX41 acts as a sensor of viral DNA and activates the STING-TBK1-IRF3-type I IFN signaling pathway. Germline heterozygous variants in DDX41 have been reported in fa...
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