Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Congenital heart defects research

paper · pdf · doi:10.1016/j.ajhg.2015.07.004

Cited by

• The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty
• The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders
• A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X
• Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
• Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome
• Derivation of consensus inactivation status for X-linked genes from genome-wide studies. [europepmc]
• The importance of having two X chromosomes. [europepmc]
• Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. [europepmc]
• Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias. [europepmc]
• Wnt signaling networks in autism spectrum disorder and intellectual disability. [europepmc]
• Lessons learned from additional research analyses of unsolved clinical exome cases. [europepmc]
• When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome. [europepmc]
• Biochemical Differences and Similarities between the DEAD-Box Helicase Orthologs DDX3X and Ded1p. [europepmc]
• Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. [europepmc]
• Sex Chromosome Effects on Male-Female Differences in Mammals. [europepmc]
• Paralog Studies Augment Gene Discovery: DDX and DHX Genes. [europepmc]
• Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. [europepmc]
• CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation. [europepmc]
• Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders. [europepmc]
• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. [europepmc]
• Quantitative analysis of Y-Chromosome gene expression across 36 human tissues. [europepmc]
• Mechanisms and Regulation of RNA Condensation in RNP Granule Formation. [europepmc]
• DDX3X Suppresses the Susceptibility of Hindbrain Lineages to Medulloblastoma. [europepmc]
• DDX3 depletion represses translation of mRNAs with complex 5' UTRs. [europepmc]
• DDX3X and DDX3Y are redundant in protein synthesis. [europepmc]
• Sexually dimorphic RNA helicases DDX3X and DDX3Y differentially regulate RNA metabolism through phase separation. [europepmc]
• Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model. [europepmc]
• Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases. [europepmc]
• Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation. [europepmc]
• Genome-wide quantification of RNA flow across subcellular compartments reveals determinants of the mammalian transcript life cycle. [europepmc]