DDX3X Syndrome

DDX3X syndrome is caused by a spontaneous mutation at conception that primarily affects girls due to its location on the X-chromosome. DDX3X syndrome has been linked to intellectual disabilities, seizures, autism, low muscle tone, brain abnormalities, and slower physical developments. Here is the latest research.

July 29, 2010
Open Access

Paternally biased X inactivation in mouse neonatal brain

Genome Biology
Xu WangAndrew G Clark
December 10, 2017

A CK1 FRET biosensor reveals that DDX3X is an essential activator of CK1ε

Journal of Cell Science
Christine DoldeBeat Suter
May 11, 2018
Open Access

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

BioRxiv : the Preprint Server for Biology
Ashley L LennoxElliott H Sherr
December 20, 2011
Review

The X chromosome and immune associated genes

Journal of Autoimmunity
Ilaria BianchiPietro Invernizzi
August 21, 2018

DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome

Acta Neuropathologica
Tareq A JuratliPriscilla K Brastianos
March 1, 2012
Open Access

Y chromosome gene expression in the blood of male patients with ischemic stroke compared with male controls

Gender Medicine
Yingfang TianFrank R Sharp
August 27, 2013

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3, X-linked is an immunogenic target of cancer stem cells

Cancer Immunology, Immunotherapy : CII
Jun KoshioIchiei Narita
March 13, 2014
Review
Open Access

RNA binding protein-mediated post-transcriptional gene regulation in medulloblastoma

Molecules and Cells
Rebecca Bish, Christine Vogel
August 4, 2015
Open Access

Dynamics of gene silencing during X inactivation using allele-specific RNA-seq

Genome Biology
Hendrik MarksHendrik G Stunnenberg
November 7, 2015

Homology Model-Based Virtual Screening for the Identification of Human Helicase DDX3 Inhibitors

Journal of Chemical Information and Modeling
Roberta FaziMaurizio Botta
February 2, 2018
Open Access

Dengue Virus Capsid Interacts with DDX3X-A Potential Mechanism for Suppression of Antiviral Functions in Dengue Infection

Frontiers in Cellular and Infection Microbiology
Rinki KumarGuruprasad R Medigeshi
March 19, 2015

Escape from X inactivation varies in mouse tissues

PLoS Genetics
Joel B BerletchXinxian Deng
March 1, 2019

Further delineation of DDX3X syndrome

Clinical Dysmorphology
Nicolas M ChanesYves Lacassie
July 6, 2019

Expansion of phenotype of DDX3X syndrome: six new cases

Clinical Dysmorphology
Bryony BealHimanshu Goel
December 10, 2009
Open Access

Dosage regulation of the active X chromosome in human triploid cells

PLoS Genetics
Xinxian DengChristine M Disteche

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

Alzheimer's Disease: Abeta

Alzheimer's disease (AD) is a chronic neurodegenerative disease associated with accumulation of amyloid plaques, which are comprised of amyloid beta. Here is the latest research in this field.

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.

Bullous Pemphigoid

Bullous pemphigoid is a chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis. Discover the latest research on bullous pemphigoid here.

CLOVES Syndrome

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research.

© 2020 Meta ULC. All rights reserved
/feed-previews/ddx3x-syndrome/279479c7-a500-463e-8472-9595c10c3375