Results 11 to 20 of about 153 (89)

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development [PDF]

Frontiers in Neuroscience, 2020
Mutations in the WWOX gene cause a broad range of ultra-rare neurodevelopmental and brain degenerative disorders, associated with a high likelihood of premature death in animal models as well as in humans.
Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli, Annalaura Torella, Annalaura Torella, Mariasavina Severino, Dario Paladini, Luana Mandarà, Antonella Riva, Marcello Scala, Marcello Scala, Ganna Balagura, Ganna Balagura, Andrea Accogli, Andrea Accogli, Vincenzo Nigro, Vincenzo Nigro, Carlo Minetti, Carlo Minetti, Ezio Fulcheri, Ezio Fulcheri, Federico Zara, Federico Zara, Andrzej K. Bednarek, Pasquale Striano, Pasquale Striano, Hiroetsu Suzuki, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro   +31 more
doaj   +5 more sources

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report [PDF]

Frontiers in Pediatrics
BackgroundWWOX-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, Ye Li, Ya-Ting Zhang, Yan-Jun Song, Dong-Yuan Qin, Fan Wang   +5 more
doaj   +2 more sources

In vitro human cell culture models in a bench-to-bedside approach to epilepsy. [PDF]

Epilepsia Open
Abstract Epilepsy is the most common chronic neurological disease, affecting nearly 1%–2% of the world's population. Current pharmacological treatment and regimen adjustments are aimed at controlling seizures; however, they are ineffective in one‐third of the patients.
Danačíková Š, Straka B, Daněk J, Kořínek V, Otáhal J.   +4 more
europepmc   +2 more sources

WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12. [PDF]

Prog Neurobiol, 2023
WWOX gene loss-of-function (LoF) has been associated with neuropathologies resulting in developmental, epileptic, and ataxic phenotypes of varying severity based on the level of WWOX dysfunction. WWOX gene biallelic germline variant p.Pro47Thr (P47T) has
Hussain T, Sanchez K, Crayton J, Saha D, Jeter C, Lu Y, Abba M, Seo R, Noebels JL, Fonken L, Aldaz CM.   +10 more
europepmc   +6 more sources

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases [PDF]

, 2023
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25–30%
Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Calpena, E, Camps, C, Cario, H, Cilliers, D, Conti, V, Dacal, BD, Davies, EG, Dhalla, F, Dong, Y, Dreau, H, Dunford, JE, Ferla, M, Giacopuzzi, E, Guerrini, R, Harris, AL, Hartley, J, Hashim, M, Hashimoto, A, Hollander, G, Hughes, JR, Javaid, K, Kaisaki, PJ, Kane, M, Kelly, D, Kelly, D, Kesim, Y, Kini, U, Knight, SJL, Kreins, AY, Kvikstad, EM, Lange, L, Langman, CB, Lester, T, Lines, KE, Lord, SR, Lu, X, Lunter, G, Mansour, S, Manzur, A, Maroofian, R, Marsden, B, Mason, J, McGowan, SJ, Mei, D, Mlcochova, H, Murakami, Y, Németh, AH, Okoli, S, Ormondroyd, E, Ousager, LB, Pagnamenta, AT, Palace, J, Patel, SY, Pentony, MM, Popitsch, N, Pugh, C, Rad, A, Ragoussis, V, Ramesh, A, Riva, SG, Roberts, I, Roy, N, Salminen, O, Sanders, E, Schilling, KD, Schuh, AH, Schwessinger, R, Scott, C, Sen, A, Smith, C, Stevenson, M, Taylor, JC, Taylor, JM, Thakker, RV, Twigg, SRF, Uhlig, HH, van Wijk, R, Vavoulis, DV, Vona, B, Wall, S, Wang, J, Watkins, H, Wilkie, AOM, Yu, J, Zak, J   +96 more
core   +15 more sources

Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus. [PDF]

Neurobiol Dis, 2019
The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Hussain T, Kil H, Hattiangady B, Lee J, Kodali M, Shuai B, Attaluri S, Takata Y, Shen J, Abba MC, Shetty AK, Aldaz CM.   +11 more
europepmc   +4 more sources

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation. [PDF]

Front Genet
WWOX developmental and epileptic encephalopathy is characterised by drug-resistant epilepsy with onset within the first year of life and severe psychomotor developmental delay.
Teplyshova A, Sharkov A.
europepmc   +3 more sources

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. [PDF]

BMC Med Genet, 2016
BACKGROUND: WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis.
Elsaadany L, El-Said M, Ali R, Kamel H, Ben-Omran T.   +4 more
europepmc   +2 more sources

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   +1 more source

Neuronal deletion of Wwox, associated with WOREE syndrome, causes epilepsy and myelin defects

Brain, 2021
Abstract WWOX-related epileptic encephalopathy (WOREE) syndrome caused by human germline bi-allelic mutations in WWOX is a neurodevelopmental disorder characterized by intractable epilepsy, severe developmental delay, ataxia and premature death at the age of 2–4 years. The underlying mechanisms of WWOX actions are poorly understood.
Srinivasarao Repudi, Daniel J Steinberg, Nimrod Elazar, Vanessa L Breton, Mark S Aquilino, Afifa Saleem, Sara Abu-Swai, Anna Vainshtein, Yael Eshed-Eisenbach, Bharath Vijayaragavan, Oded Behar, Jacob J Hanna, Elior Peles, Peter L Carlen, Rami I Aqeilan   +14 more
openaire   +2 more sources