WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report [PDF]
Frontiers in PediatricsBackgroundWWOX-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized by the onset of refractory seizures in infants.
Dan Feng +5 more
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Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes [PDF]
EMBO Molecular Medicine, 2021 WW domain‐containing oxidoreductase (WWOX) is an emerging neural gene‐regulating homeostasis of the central nervous system. Germline biallelic mutations in WWOX cause WWOX‐related epileptic encephalopathy (WOREE) syndrome and spinocerebellar ataxia and ...
Srinivasarao Repudi +4 more
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Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and review [PDF]
Translational Neuroscience, 2018 The WWOX gene has a WW domain containing oxidoreductase, which is located at the common fragile site FRA16D at chromosome 16q23. WWOX is a tumor suppressor gene that has been associated with several types of cancer such as hepatic, breast, lung, prostate,
Ehaideb Salleh N. +4 more
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Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome [PDF]
BMC Medical Genomics, 2023 Background Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date.
Xing-sheng Dong +5 more
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Molecular Biology of the WWOX Gene That Spans Chromosomal Fragile Site FRA16D [PDF]
Cells, 2021 It is now more than 20 years since the FRA16D common chromosomal fragile site was characterised and the WWOX gene spanning this site was identified. In this time, much information has been discovered about its contribution to disease; however, the normal
Cheng Shoou Lee +4 more
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The fragile site WWOX gene and the developing brain [PDF]
Experimental Biology and Medicine, 2015 WWOX was cloned as a tumor suppressor gene mapping to chromosomal fragile site FRA16D. Loss of WWOX is closely related to tumorigenesis, cancer progression, and therapy resistance. Recent studies demonstrate the growing role of WWOX gene in other human pathologies such as metabolic and nervous system-related conditions.
Brahim Tabarki, Fuad Al Mutairi
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The WWOX Gene Influences Cellular Pathways in the Neuronal Differentiation of Human Neural Progenitor Cells [PDF]
Frontiers in Cellular Neuroscience, 2019 The brain is the most functionally organized structure of all organs. It manages behavior, perception and higher cognitive functions. The WWOX gene is non-classical tumor suppressor gene, which has been shown to have an impact on proliferation, apoptosis
Katarzyna Kośla +5 more
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The WWOX Gene Modulates High-Density Lipoprotein and Lipid Metabolism [PDF]
Circulation: Cardiovascular Genetics, 2014 Background— Low levels of high-density lipoprotein (HDL) cholesterol constitutes a major risk factor for atherosclerosis. Recent studies from our group reported a genetic association between the WW domain-containing oxidoreductase ( WWOX ) gene and HDL cholesterol levels. Here, through
Hong Y. Choi +2 more
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The WWOX gene in brain development and pathology. [PDF]
Exp Biol Med (Maywood), 2020 Shortly after its discovery in 2000, WWOX was hailed as a tumor suppressor gene. In subsequent years of research, this function was confirmed indisputably. Majority of tumors show high rate of loss of heterozygosity and decreased expression of WWOX.
Kośla K, Kałuzińska Ż, Bednarek AK.
europepmc +4 more sources
Loss of fragile WWOX gene leads to senescence escape and genome instability. [PDF]
Cell Mol Life Sci, 2023 AbstractInduction of DNA damage response (DDR) to ensure accurate duplication of genetic information is crucial for maintaining genome integrity during DNA replication. Cellular senescence is a DDR mechanism that prevents the proliferation of cells with damaged DNA to avoid mitotic anomalies and inheritance of the damage over cell generations.
Cheng HC +9 more
europepmc +3 more sources