Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.G325E
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DDX3X

NM_001356.5:p.G325E

Associated Papers

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates.

Owens MC et al.

Nature Communications, 2024

The Role of the RNA Helicase DDX3X in Medulloblastoma Progression.

Swarup A et al.

Biomolecules, 2024

Author Correction: Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation.

Valentin-Vega YA et al.

Scientific Reports, 2024

NMR characterization of RNA binding property of the DEAD-box RNA helicase DDX3X and its implications for helicase activity.

Toyama Y et al.

Nature Communications, 2024

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.

Radford EJ et al.

Nature Communications, 2023

38057330 (PubMed )
Supplement: 41467_2023_43041_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_S26_cBioportal_DDX3X_vars_190_nonoverlapping_samples.xlsx › Supplementary_Data_S21_cBioport

Mutant forms of DDX3X with diminished catalysis form hollow condensates that exhibit sex-specific regulation.

Owens MC et al.

Biorxiv : the Preprint Server for Biology, 2023

The human DEAD-box helicase DDX3X as a regulator of mRNA translation.

Ryan CS et al.

Frontiers in Cell and Developmental Biology, 2022

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Lennox AL et al.

Neuron, 2020

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM10_ESM.xlsx › 7A.ALL_PATHOLOGIC_FINDINGS

Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Izquierdo E et al.

Oncotarget, 2017

29340109 (PubMed )
Supplement: oncotarget-08-112036-s010.xlsx › Clinical_samples_known_observed

Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation.

Valentin-Vega YA et al.

Scientific Reports, 2016

Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

Epling LB et al.

Journal of Molecular Biology, 2015

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G et al.

Nature, 2012

Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.

Brown NP et al.

The Journal of Biological Chemistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."