Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene. [PDF]
Cureus, 2022 Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development.
Sukkar G +3 more
europepmc +3 more sources
Functional genetic variant of WW domain-containing oxidoreductase (WWOX) gene is associated with hepatocellular carcinoma risk. [PDF]
PLoS ONE, 2017 BACKGROUND:Hepatocellular carcinoma (HCC) is one of the most common malignant tumors worldwide. Human WW domain-containing oxidoreductase (WWOX) gene has been identified as a tumor suppressor gene in multiple cancers.
Hsiang-Lin Lee +5 more
doaj +2 more sources
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus [PDF]
Neurobiology of Disease, 2019 The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Tabish Hussain +11 more
doaj +4 more sources
Association of WWOX Gene Expression with Chronic Lymphocytic Leukemia
Namık Kemal Tıp Dergisi, 2020 Aim:The WW domain-containing oxidoreductase (WWOX) gene is located on chromosome 16q23.3-q24.1 and contains the common chromosomal fragile site, FRA16D. The WWOX gene encodes a Wwox tumor suppressor protein with a molecular weight of 46 kDa.
Halil HANCI +4 more
doaj +2 more sources
Epigenetic and genetic alterations affect the WWOX gene in head and neck squamous cell carcinoma. [PDF]
PLoS ONE, 2015 Different types of genetic and epigenetic changes are associated with HNSCC. The molecular mechanisms of HNSCC carcinogenesis are still undergoing intensive investigation.
Seda Ekizoglu +4 more
doaj +2 more sources
Endogenous Processes Underlying Clock-Like Mutational Signatures. [PDF]
Genes Chromosomes CancerABSTRACT Wellcome Trust scientists have shown that “mutational signatures” in specific nucleotide contexts accumulate in genomes of mammalian tissues, providing clues to underlying causes of specific signatures. Analysis of cancer genomes has identified more than 50 single‐base substitution (SBS) signatures, with SBS1, SBS5, and SBS40 linked to aging ...
Druck T +4 more
europepmc +2 more sources
WWOX Induction Promotes Bcl-XL and Mcl-1 Degradation Through a Lysosomal Pathway upon Stress Responses [PDF]
CellsThe human WWOX gene resides on a common fragile site and is frequently deleted or altered during DNA replication. WWOX mutations are associated with various human diseases, including cancer, neurodegeneration, and developmental deficits.
Yu-Han Su +8 more
doaj +2 more sources
Genetic and Functional Evidence Links Germline Biallelic Inactivating Variants in WWOX to Histological Mixed-Type Thyroid Cancer. [PDF]
Adv Sci (Weinh)The role of germline WWOX loss‐of‐function variants in oncogenesis has remained poorly characterized. This study provides the first comprehensive genetic and functional evidence that such variants promote tumorigenesis through the disruption of multiple tumor‐suppressive mechanisms.
Zhang X +8 more
europepmc +2 more sources
Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene [PDF]
Molecular Genetics & Genomic MedicineBackground Variations in the WWOX gene have been identified as the leading cause of several central nervous system disorders. However, most previous reports have focused on the description of clinical phenotype, neglecting functional verification. Herein,
Yang You +4 more
doaj +2 more sources
WWOX Tumor Suppressor Gene in Breast Cancer, a Historical Perspective and Future Directions
Frontiers in Oncology, 2018 The WWOX tumor suppressor gene is located at 16q23. 1–23.2, which covers the region of FRA16D—a common fragile sites. Deletions within the WWOX coding sequence are observed in up to 80% of breast cancer cases, which makes it one of the most common ...
Karolina Pospiech +2 more
doaj +3 more sources