The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

<p><strong>Purpose</strong> Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders,...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Héron, D, Nougues, M, Nava, C, Arsene, O, Shears, D, Taylor, J, Pagnamenta, A, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, M, Busa, T, Roubertie, A, Van Den Born, M, Brischoux-Boucher, E, Koenig, M, Mignot, C, Ddd Study, Kini, U, Philippe, C
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	Springer Nature 2018

Eitemau Tebyg

Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome
gan: Xing-sheng Dong, et al.
Cyhoeddwyd: (2023-11-01)

Spinning wore from molten metal /
gan: Mottern, J. W., et al.
Cyhoeddwyd: (1978)

Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes
gan: Srinivasarao Repudi, et al.
Cyhoeddwyd: (2021-11-01)

Renovatio imperii Romani: The aspect of Christian wored outlook
gan: Marius Ščavinskas
Cyhoeddwyd: (2003-06-01)

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
gan: Antonella Riva, et al.
Cyhoeddwyd: (2022-04-01)

Neuroimaging features of WOREE syndrome: a mini-review of the literature
gan: Laura Battaglia, et al.
Cyhoeddwyd: (2023-12-01)

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
gan: Balestrini, S, et al.
Cyhoeddwyd: (2016)

Illustrating Power Relations through Symbolism in The Prisoner Who Wore Glasses
gan: Dyah Ayu Larasati
Cyhoeddwyd: (2023-12-01)

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report
gan: Dan Feng, et al.
Cyhoeddwyd: (2024-10-01)

WWOX and Its Binding Proteins in Neurodegeneration
gan: Che-Yu Hsu, et al.
Cyhoeddwyd: (2021-07-01)

WWOX Phosphorylation, Signaling, and Role in Neurodegeneration
gan: Chan-Chuan Liu, et al.
Cyhoeddwyd: (2018-08-01)

WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives
gan: Daniel J. Steinberg, et al.
Cyhoeddwyd: (2021-11-01)

Socialism in Bessie Head’s “The Prisoner Who Wore Glasses”: A Marxist Reading
gan: F. Sandro Asshary
Cyhoeddwyd: (2024-04-01)

The effects of protocadherin 8 and WWOX in prostate adenocarcinoma
gan: Mürüvvet Akçay Çelik, et al.
Cyhoeddwyd: (2022-04-01)

Wwox Deletion in Mouse B Cells Leads to Genomic Instability, Neoplastic Transformation, and Monoclonal Gammopathies
gan: Kevin M. McBride, et al.
Cyhoeddwyd: (2019-06-01)

WWOX promotes osteosarcoma development via upregulation of Myc
gan: Rania Akkawi, et al.
Cyhoeddwyd: (2024-01-01)

Molecular Functions of WWOX Potentially Involved in Cancer Development
gan: Karim Taouis, et al.
Cyhoeddwyd: (2021-04-01)

WWOX Modulates ROS-Dependent Senescence in Bladder Cancer
gan: Ching-Wen Liu, et al.
Cyhoeddwyd: (2022-10-01)

Association of WWOX Gene Expression with Chronic Lymphocytic Leukemia
gan: Halil HANCI, et al.
Cyhoeddwyd: (2020-08-01)

LINC01137/miR-186-5p/WWOX: a novel axis identified from WWOX-related RNA interactome in bladder cancer
gan: Damian Kołat, et al.
Cyhoeddwyd: (2023-07-01)

“I cluppe and I cusse as I wood wore”: Erotic Imagery in Middle English Mystical Writings
gan: Władysław Witalisz
Cyhoeddwyd: (2013-11-01)

{'en_US': 'Development of Work-Based Learning Models Based on Work Readiness (WBL-WoRe)'}
gan: Bambang Sudarsono
Cyhoeddwyd: (2022-04-01)

Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview
gan: Ehud Banne, et al.
Cyhoeddwyd: (2021-04-01)

Correction: WWOX promotes osteosarcoma development via upregulation of Myc
gan: Rania Akkawi, et al.
Cyhoeddwyd: (2024-02-01)

DECONSTRUCTIVE HEGEMONY ON THE MARGINAL GENDER AND IDENTITY SEEN IN MAUGHAM’S “THE LOTUS EATER” AND HEAD’S “THE PRISONER WHO WORE GLASSES”
gan: Didimus Estanto Turuk
Cyhoeddwyd: (2019-11-01)

A p53/TIAF1/WWOX triad exerts cancer suppression but may cause brain protein aggregation due to p53/WWOX functional antagonism
gan: Pei-Yi Chou, et al.
Cyhoeddwyd: (2019-07-01)

Generation and characterization of mice carrying a conditional allele of the Wwox tumor suppressor gene.
gan: John H Ludes-Meyers, et al.
Cyhoeddwyd: (2009-11-01)

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
gan: Michele Iacomino, et al.
Cyhoeddwyd: (2020-06-01)

Tumor Suppressor WWOX Contributes to the Elimination of Tumorigenic Cells in Drosophila melanogaster.
gan: Louise V O'Keefe, et al.
Cyhoeddwyd: (2015-01-01)

Tumor suppressor WWOX and p53 alterations and drug resistance in glioblastomas
gan: Ming-Fu eChiang, et al.
Cyhoeddwyd: (2013-03-01)

Income as a wore general optimization criterion as regards availability and replacement costs in determining the optimal period of preventive replacement
gan: Tatjana Peković
Cyhoeddwyd: (1997-09-01)

WWOX protein expression varies among ovarian carcinoma histotypes and correlates with less favorable outcome
gan: Liu Jinsong, et al.
Cyhoeddwyd: (2005-06-01)

HYAL-2–WWOX–SMAD4 signaling in cell death and anticancer response
gan: Li-Jin Hsu, et al.
Cyhoeddwyd: (2016-12-01)

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly
gan: Pagnamenta, A, et al.
Cyhoeddwyd: (2018)

Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus
gan: Tabish Hussain, et al.
Cyhoeddwyd: (2019-01-01)

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation
gan: Anna Teplyshova, et al.
Cyhoeddwyd: (2024-10-01)

Loss of wwox expression in zebrafish embryos causes edema and alters Ca2+ dynamics
gan: Yusuke Tsuruwaka, et al.
Cyhoeddwyd: (2015-01-01)

Epigenetic and genetic alterations affect the WWOX gene in head and neck squamous cell carcinoma.
gan: Seda Ekizoglu, et al.
Cyhoeddwyd: (2015-01-01)

The WWOX Gene Influences Cellular Pathways in the Neuronal Differentiation of Human Neural Progenitor Cells
gan: Katarzyna Kośla, et al.
Cyhoeddwyd: (2019-08-01)

PARTICLE triplexes cluster in the tumor suppressor WWOX and may extend throughout the human genome
gan: Valerie Bríd O’Leary, et al.
Cyhoeddwyd: (2017-08-01)