Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview [PDF]
Cells, 2021 The transcriptional regulator WW domain-containing oxidoreductase (WWOX) is a key player in a number of cellular and biological processes including tumor suppression. Recent evidence has emerged associating WWOX with non-cancer disorders.
Ehud Banne +10 more
doaj +5 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 +10 more
europepmc +6 more sources
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
doaj +2 more sources
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
Lee CS +4 more
europepmc +3 more sources
Late subadult ontogeny and adult aging of the human thorax reveals divergent growth trajectories between sexes. [PDF]
Sci Rep, 2020 Sexual dimorphism is an important feature of adult thorax morphology, but when and how sex-related differences in the ribcage arise during ontogeny is poorly known.
García-Martínez D +10 more
europepmc +6 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 +7 more
doaj +1 more source
I motivi principali dell'elegia augustea [PDF]
, 2015 A survey of several motifs of Latin elegy, with special attention devoted to Catullus’ influence on Roman love poetry: the covenant between lovers; the longing for a family and a quiet life; the alleged irrelevance of the love poet; country and natural ...
Lieberg, Godo
core +2 more sources
Estimated annual economic impacts from harmful algal blooms (HABs) in the United States [PDF]
, 2000 Blooms of toxic or harmful microalgae, commonly called "red tides," represent a significant and expanding threat to human health and fisheries resources throughout the United States and the world.
Anderson, Donald M. +3 more
core +1 more source
Perfil de Expresión Génica por RNA-SEQ del Cáncer Diferenciado de Tiroides Diagnósticado en el HNCASE ESSALUD, Arequipa 2019-2020 [PDF]
, 2022 Los avances en la tecnología de secuenciación de próxima generación (NGS) RNA-Seq están permitiendo revelar el genotipo del cáncer diferenciado de tiroides (CDT). Poco se conoce acerca de los genes que están activos en esta patología.
Cárdenas Abarca, Carlos Arturo
core
Põlevkivituhk-ehitusmaterjalid [PDF]
, 1969 Digiteeritud Euroopa Regionaalarengu Fondi rahastusel, projekti "Eesti teadus- ja õppekirjandus" (2014-2020.12.03.21-0848) raames.https://www.ester.ee/record=b1343678 ...
Kikas, Verner
core +1 more source