WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report. [PDF]
Front PediatrBackgroundWWOX-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. Early-onset epilepsy, electroencephalography abnormalities, and developmental delay or degeneration are the main clinical manifestations.
Feng D +5 more
europepmc +4 more sources
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]
, 2011 Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini +32 more
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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 +1 more source
The cancer gene WWOX behaves as an inhibitor of SMAD3 transcriptional activity via direct binding [PDF]
, 2013 Background: The WW domain containing protein WWOX has been postulated to behave as a tumor suppressor in breast and other cancers. Expression of this protein is lost in over 70% of ER negative tumors.
Abba, Martín Carlos +6 more
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WWOX protein expression in normal human tissues [PDF]
Journal of Molecular Histology, 2006 WWOX is a putative tumor suppressor gene that spans approximately a 1 Mb genomic region and is the site for the second most common chromosomal fragile site, FRA16D at 16q23. Various studies have focused on the expression of WWOX in human cancer mostly at the RNA level, but little is known about the normal pattern of WWOX protein expression in non ...
Maria I, Nunez +2 more
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Novel principles of gamma-retroviral insertional transcription activation in murine leukemia virus-induced end-stage tumors [PDF]
, 2014 BACKGROUND: Insertional mutagenesis screens of retrovirus-induced mouse tumors have proven valuable in human cancer research and for understanding adverse effects of retroviral-based gene therapies.
Finn Pedersen +3 more
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Histology and histopathology, 2008 Loss of heterozygosity and chromosomal rearrangement of the WWOX gene, which is located at 16q23.3-24.1, have been detected in ovarian, breast, hepatocellular, and prostate carcinomas and in other neoplasias. This gene, which spans the common chromosomal fragile site 16D, contains 9 exons and encodes a 46 kDa WWOX protein that contains 414 amino acids.
Yang, Jilong, Zhang, Wei
openaire +3 more sources
C6orf10 low-frequency and rare variants in italian multiple sclerosis patients [PDF]
, 2019 In light of the complex nature of multiple sclerosis (MS) and the recently estimated contribution of low-frequency variants into disease, decoding its genetic risk components requires novel variant prioritization strategies.
Balestra, Dario +16 more
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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 +1 more source
Self-aggregating TIAF1 in lung cancer progression [PDF]
, 2013 Recent studies have demonstrated that transforming growth factor beta (TGF-β1)-induced antiapoptotic factor (TIAF1) is able to form aggregates in the hippocampi of middle-aged normal individuals.
Chen-Yu Lu +6 more
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