Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
出版年份 2019 全文链接
标题
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2019-04-01
DOI
10.1038/s41431-019-0392-7
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started