Related references
Note: Only part of the references are listed.Brain organoids: an ensemble of bioassays to investigate human neurodevelopment and disease
Jaydeep Sidhaye et al.
CELL DEATH AND DIFFERENTIATION (2021)
The severe epilepsy syndromes of infancy: A population-based study
Katherine B. Howell et al.
EPILEPSIA (2021)
Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene
Tangfeng Su et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2020)
CRISPR TREATMENT INSERTED DIRECTLY INTO BODY FOR THE FIRST TIME
Heidi Ledford
NATURE (2020)
Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice
Ya-Yun Cheng et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
Elena Bacchelli et al.
SCIENTIFIC REPORTS (2020)
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Qingbo Wang et al.
NATURE COMMUNICATIONS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
Michele Iacomino et al.
FRONTIERS IN NEUROSCIENCE (2020)
WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders
C. Marcelo Aldaz et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
Hongyi Li et al.
SIGNAL TRANSDUCTION AND TARGETED THERAPY (2020)
Pleiotropic tumor suppressor functions of WWOX antagonize metastasis
Saleh Khawaled et al.
SIGNAL TRANSDUCTION AND TARGETED THERAPY (2020)
A Chinese patient with epilepsy and WWOX compound heterozygous mutations
Jing He et al.
EPILEPTIC DISORDERS (2020)
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews
M. Weisz-Hubshman et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2019)
Altered human oligodendrocyte heterogeneity in multiple sclerosis
Sarah Jakel et al.
NATURE (2019)
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Brian W. Kunkle et al.
NATURE GENETICS (2019)
Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects
Beate Peter et al.
BEHAVIOR GENETICS (2019)
Editing the Central Nervous System Through CRISPR/Cas9 Systems
Agustin Cota-Coronado et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)
A 16q22.2-q23.1 deletion identified in a male infant with West syndrome
Tatsuo Mori et al.
BRAIN & DEVELOPMENT (2019)
AAV9 Vector: a Novel modality in gene therapy for spinal muscular atrophy
Rithu Pattali et al.
GENE THERAPY (2019)
Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy
Yuki Tochigi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
The landscape of early infantile epileptic encephalopathy in a consanguineous population
Marwan Nashabat et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2019)
Specific inhibition of splicing factor activity by decoy RNA oligonucleotides
Polina Denichenko et al.
NATURE COMMUNICATIONS (2019)
C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients
Nicole Ziliotto et al.
FRONTIERS IN GENETICS (2019)
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
Nikolas A. Patsopoulos et al.
SCIENCE (2019)
The WWOX Gene Influences Cellular Pathways in the Neuronal Differentiation of Human Neural Progenitor Cells
Katarzyna Kosla et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2019)
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
Rosemary Burgess et al.
ANNALS OF NEUROLOGY (2019)
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette Piard et al.
GENETICS IN MEDICINE (2019)
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Mariska Davids et al.
HUMAN MUTATION (2019)
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10
Morgan L. Maeder et al.
NATURE MEDICINE (2019)
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus
Tabish Hussain et al.
NEUROBIOLOGY OF DISEASE (2019)
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Charles A. Steward et al.
NPJ GENOMIC MEDICINE (2019)
Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy
Chengqing Yang et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2019)
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
John Hoon Rim et al.
BMC MEDICAL GENOMICS (2018)
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Jessika Johannsen et al.
NEUROGENETICS (2018)
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
Kavitha Kothur et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2018)
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation
Hepsen Mine Serin et al.
NEUROLOGICAL SCIENCES (2018)
WWOX Phosphorylation, Signaling, and Role in Neurodegeneration
Chan-Chuan Liu et al.
FRONTIERS IN NEUROSCIENCE (2018)
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations
Qudsia Shaukat et al.
EPILEPTIC DISORDERS (2018)
NOVEL HOMOZYGOUS MUTATION IN THE WWOX GENE CAUSES SEIZURES AND GLOBAL DEVELOPMENTAL DELAY: REPORT AND REVIEW
Salleh N. Ehaideb et al.
TRANSLATIONAL NEUROSCIENCE (2018)
Genome-wide association analysis identifies common variants influencing infant brain volumes
K. Xia et al.
TRANSLATIONAL PSYCHIATRY (2017)
Practical clues for diagnosing WWOX encephalopathy
Oana Tarta-Arsene et al.
EPILEPTIC DISORDERS (2017)
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
Virpi M. Leppa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report
Loai Elsaadany et al.
BMC MEDICAL GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies
Rolla Shbarou et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2016)
Severe CNS Involvement in WWOX Mutations: Description of Five New Cases
Brahim Tabarki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Genetic associations with brain cortical thickness in multiple sclerosis
T. Matsushita et al.
GENES BRAIN AND BEHAVIOR (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Pleiotropic Functions of Tumor Suppressor WWOX in Normal and Cancer Cells
Muhannad Abu-Remaileh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period
Mylene Valduga et al.
JOURNAL OF HUMAN GENETICS (2015)
Trafficking protein particle complex 6A delta (TRAPPC6AΔ) is an extracellular plaque-forming protein in the brain
Jean-Yun Chang et al.
ONCOTARGET (2015)
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Cyril Mignot et al.
JOURNAL OF MEDICAL GENETICS (2015)
A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy
Salma Ben-Salem et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2015)
WWOX dysfunction induces sequential aggregation of TRAPPC6AΔ, TIAF1, tau and amyloid β, and causes apoptosis
J-Y Chang et al.
CELL DEATH DISCOVERY (2015)
WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies
C. Marcelo Aldaz et al.
BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER (2014)
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
Martial Mallaret et al.
BRAIN (2014)
Tumor suppressor WWOX regulates glucose metabolism via HIF1α modulation
M. Abu-Remaileh et al.
CELL DEATH AND DIFFERENTIATION (2014)
The common fragile site FRA16D gene product WWOX: roles in tumor suppression and genomic stability
Rami I. Aqeilan et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2014)
WW domain-containing oxidoreductase's role in myriad cancers: Clinical significance and future implications
Aliza Gardenswartz et al.
EXPERIMENTAL BIOLOGY AND MEDICINE (2014)
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
Ghada Abdel-Salam et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
WWOX, the common fragile site FRA16D gene product, regulates ATM activation and the DNA damage response
Mohammad Abu-Odeh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Molecular Origin of the Binding of WWOX Tumor Suppressor to ErbB4 Receptor Tyrosine Kinase
Brett J. Schuchardt et al.
BIOCHEMISTRY (2013)
The cancer gene WWOX behaves as an inhibitor of SMAD3 transcriptional activity via direct binding
Brent W. Ferguson et al.
BMC CANCER (2013)
Cerebral organoids model human brain development and microcephaly
Madeline A. Lancaster et al.
NATURE (2013)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Ashley H. Beecham et al.
NATURE GENETICS (2013)
Tumor suppressor WWOX binds to Delta DNp63 alpha and sensitizes cancer cells to chemotherapy
Z. Salah et al.
CELL DEATH & DISEASE (2013)
Myelin Recovery in Multiple Sclerosis: The Challenge of Remyelination
Maria Podbielska et al.
BRAIN SCIENCES (2013)
WW domain-containing oxidoreductase promotes neuronal differentiation via negative regulation of glycogen synthase kinase 3β
H-Y Wang et al.
CELL DEATH AND DIFFERENTIATION (2012)
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
Stefan White et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data
Ethan Cerami et al.
CANCER DISCOVERY (2012)
The tumor suppressor gene WWOX links the canonical and noncanonical NF-κB pathways in HTLV-I Tax-mediated tumorigenesis
Jing Fu et al.
BLOOD (2011)
Drosophila orthologue of WWOX, the chromosomal fragile site FRA16D tumour suppressor gene, functions in aerobic metabolism and regulates reactive oxygen species
Louise V. O'Keefe et al.
HUMAN MOLECULAR GENETICS (2011)
A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells
Maria C. N. Marchetto et al.
CELL (2010)
WWOX gene and gene product: tumor suppression through specific protein interactions
Zaidoun Salah et al.
FUTURE ONCOLOGY (2010)
TGF-β induces TIAF1 self-aggregation via type II receptor-independent signaling that leads to generation of amyloid β plaques in Alzheimer's disease
M-H Lee et al.
CELL DEATH & DISEASE (2010)
A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy
H. Suzuki et al.
GENES BRAIN AND BEHAVIOR (2009)
WWOX: Its Genomics, Partners, and Functions
Sara Del Mare et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2009)
Inhibition of the Wnt/β-catenin pathway by the WWOX tumor suppressor protein
N. Bouteille et al.
ONCOGENE (2009)
The WWOX tumor suppressor is essential for postnatal survival and normal bone metabolism
Rami I. Aqeilan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Association of Wwox with ErbB4 in breast cancer
Rami I. Aqeilian et al.
CANCER RESEARCH (2007)
WWOX in biological control and tumorigenesis
Rami I. Aqeilan et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2007)
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23
M. Gribaa et al.
BRAIN (2007)
Targeted deletion of Wwox reveals a tumor suppressor function
Rami I. Aqeilan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
WWOX protein expression in normal human tissues
Maria I. Nunez et al.
JOURNAL OF MOLECULAR HISTOLOGY (2006)
WW domain-containing proteins, WWOX and YAP, compete for interaction with ErbB-4 and modulate its transcriptional function
RI Aqeilan et al.
CANCER RESEARCH (2005)
Functional association between Wwox tumor suppressor protein and p73, a p53 homolog
RI Aqeilan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Down-regulation of WW domain-containing oxidoreductase induces Tau phosphorylation in vitro -: A potential role in Alzheimer's disease
CI Sze et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Expression of WW domain-containing oxidoreductase WOX1 in the developing murine nervous system
ST Chen et al.
NEUROSCIENCE (2004)