Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
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Title
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2019-04-01
DOI
10.1038/s41431-019-0392-7
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Related references
Note: Only part of the references are listed.- De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
- (2019) Pantelis Nicola et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Hyperactivity of Rac1-GTPase pathway impairs neuritogenesis of cortical neurons by altering actin dynamics
- (2018) Valentina Zamboni et al. Scientific Reports
- Phenotypic expansion in DDX3X - a common cause of intellectual disability in females
- (2018) Xia Wang et al. Annals of Clinical and Translational Neurology
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
- (2017) Konrad Platzer et al. JOURNAL OF MEDICAL GENETICS
- Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
- (2016) Nathalie Fieremans et al. HUMAN MUTATION
- DDX3 Modulates Neurite Development via Translationally Activating an RNA Regulon Involved in Rac1 Activation
- (2016) H.-H. Chen et al. JOURNAL OF NEUROSCIENCE
- Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias
- (2016) Andrew Dunford et al. NATURE GENETICS
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
- (2015) Lot Snijders Blok et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disorders of Microtubule Function in Neurons: Imaging Correlates
- (2015) C.A. Mutch et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Cancer-Associated Mutants of RNA Helicase DDX3X Are Defective in RNA-Stimulated ATP Hydrolysis
- (2015) Leslie B. Epling et al. JOURNAL OF MOLECULAR BIOLOGY
- DDX3, a potential target for cancer treatment
- (2015) Guus Martinus Bol et al. Molecular Cancer
- Rac-GTPases Regulate Microtubule Stability and Axon Growth of Cortical GABAergic Interneurons
- (2014) Simona Tivodar et al. CEREBRAL CORTEX
- Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations
- (2012) Trevor J. Pugh et al. NATURE
- The role of DDX3 in regulating Snail
- (2011) Mianen Sun et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Human DEAD-box protein 3 has multiple functions in gene regulation and cell cycle control and is a prime target for viral manipulation
- (2009) Martina Schröder BIOCHEMICAL PHARMACOLOGY
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