Results 11 to 20 of about 5,535 (193)

WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.

Journal of Biochemical and Clinical Genetics, 2023
Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life.
Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi   +7 more
doaj   +2 more sources

WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels. [PDF]

Am J Hum Genet, 2008
Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test for association with low HDL-C by using a regional-tag SNP strategy. We identified one SNP, rs2548861, in the WW-domain-containing oxidoreductase (WWOX) gene with region-wide significance for ...
Lee JC, Weissglas-Volkov D, Kyttälä M, Dastani Z, Cantor RM, Sobel EM, Plaisier CL, Engert JC, van Greevenbroek MM, Kane JP, Malloy MJ, Pullinger CR, Huertas-Vazquez A, Aguilar-Salinas CA, Tusie-Luna T, de Bruin TW, Aouizerat BE, van der Kallen CC, Croce CM, Aqeilan RI, Marcil M, Viikari JS, Lehtimäki T, Raitakari OT, Kuusisto J, Laakso M, Taskinen MR, Genest J, Pajukanta P.   +28 more
europepmc   +5 more sources

Targeted ablation of the WW domain-containing oxidoreductase tumor suppressor leads to impaired steroidogenesis. [PDF]

Endocrinology, 2009
The WW domain-containing oxidoreductase (WWOX) gene encodes a 46-kDa tumor suppressor. The Wwox protein contains two N-terminal WW domains that interact with several transcriptional activators containing proline-tyrosine motifs and a central short-chain dehydrogenase/reductase domain that has been suggested to play a role in steroid metabolism ...
Aqeilan RI, Hagan JP, de Bruin A, Rawahneh M, Salah Z, Gaudio E, Siddiqui H, Volinia S, Alder H, Lian JB, Stein GS, Croce CM.   +11 more
europepmc   +6 more sources

Modulation of Sonic hedgehog signaling and WW domain containing oxidoreductase WOX1 expression enhances radiosensitivity of human glioblastoma cells. [PDF]

Exp Biol Med (Maywood), 2015
WW domain containing oxidoreductase, designated WWOX, FOR or WOX1, is a known pro-apoptotic factor when ectopically expressed in various types of cancer cells, including glioblastoma multiforme (GBM). The activation of sonic hedgehog (Shh) signaling, especially paracrine Shh secretion in response to radiation, is associated with impairing the ...
Chiang MF, Chen HH, Chi CW, Sze CI, Hsu ML, Shieh HR, Lin CP, Tsai JT, Chen YJ.   +8 more
europepmc   +5 more sources

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, Alzahrani RM, Altirkistani BA, Al Lohaibi RS.   +3 more
europepmc   +3 more sources

WW domain-containing oxidoreductase in neuronal injury and neurological diseases. [PDF]

Oncotarget, 2014
The human and mouse WWOX/Wwox gene encodes a candidate tumor suppressor WW domain-containing oxidoreductase protein. This gene is located on a common fragile site FRA16D. WWOX participates in a variety of cellular events and acts as a transducer in the many signal pathways, including TNF, chemotherapeutic drugs, UV irradiation, Wnt, TGF-β, C1q, Hyal-2,
Chang HT, Liu CC, Chen ST, Yap YV, Chang NS, Sze CI.   +5 more
europepmc   +4 more sources

Reduced expression of the WW domain-containing oxidoreductase in human hematopoietic malignancies. [PDF]

Oncol Lett, 2016
The role of the WW domain-containing oxidoreductase (WWOX) gene in multiple types of solid human cancers has been documented extensively thus far. Recently, we investigated the in vitro effects of WWOX overexpression and observed marked growth arrest in human leukemia cells; however, the clinical characterization of WWOX in leukemia remains poorly ...
Luo L, Chen Y, Cheng X, Lin Y, Fu X, Li D, Cui Z, Lin D.   +7 more
europepmc   +4 more sources

Relationship of genetic variant distributions of WW domain-containing oxidoreductase gene with uterine cervical cancer. [PDF]

Int J Med Sci, 2018
To our knowledge, no study investigates the association of genetic variant distributions of WW domain-containing oxidoreductase (WWOX) gene with development of invasive cancer, clinicopathologic variables and patient survival in uterine cervical cancer for Taiwanese women.
Lin YH, Hsiao YH, Wu WJ, Yang SF, Hsu CF, Kang YT, Wang PH.   +6 more
europepmc   +4 more sources

Role of WW Domain-containing Oxidoreductase WWOX in Driving T Cell Acute Lymphoblastic Leukemia Maturation. [PDF]

J Biol Chem, 2016
Whether tumor suppressor WWOX (WW domain-containing oxidoreductase) stimulates immune cell maturation is largely unknown. Here, we determined that Tyr-33-phosphorylated WWOX physically binds non-phosphorylated ERK and IκBα in immature acute lymphoblastic leukemia MOLT-4 T cells and in the naïve mouse spleen.
Huang SS, Su WP, Lin HP, Kuo HL, Wei HL, Chang NS.   +5 more
europepmc   +6 more sources

Loss of wwox expression in zebrafish embryos causes edema and alters Ca2+ dynamics [PDF]

PeerJ, 2015
We investigated the role of the WW domain-containing oxidoreductase (wwox) gene in the embryonic development of zebrafish, with particular emphasis on intracellular Ca2+ dynamics because Ca2+ is an important intracellular messenger.
Yusuke Tsuruwaka, Masataka Konishi, Eriko Shimada   +2 more
doaj   +2 more sources