The RAG Model: a new paradigm for genetic risk stratification in multiple myeloma [PDF]
, 2014 Molecular studies have shown that multiple myeloma is a highly genetically heterogonous disease which may manifest itself as any number of diverse subtypes each with variable clinicopathological features and outcomes.
Chevassut, Timothy J +2 more
core +3 more sources
Molecular Biology of the WWOX Gene That Spans Chromosomal Fragile Site FRA16D
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
Cheng Shoou Lee +4 more
doaj +1 more source
Phosphoenolpyruvate carboxykinase maintains glycolysis-driven growth in Drosophila tumors [PDF]
, 2017 Published online: 14 September 2017Tumors frequently fail to pass on all their chromosomes correctly during cell division, and this chromosomal instability (CIN) causes irregular aneuploidy and oxidative stress in cancer cells.
Gregory, S. +4 more
core +3 more sources
Genome-Wide Copy Number Analysis in Esophageal Adenocarcinoma Using High-Density Single-Nucleotide Polymorphism Arrays [PDF]
, 2008 We applied whole-genome single-nucleotide polymorphism arrays to define a comprehensive genetic profile of 23 esophageal adenocarcinoma (EAC) primary tumor biopsies based on loss of heterozygosity (LOH) and DNA copy number changes.
Clouston, Andrew D +8 more
core +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
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
Dynamic expression of genes associated with schizophrenia and bipolar disorder across development [PDF]
, 2019 Common genetic variation contributes a substantial proportion of risk for both schizophrenia and bipolar disorder. Furthermore, there is evidence of significant, but not complete, overlap in genetic risk between the two disorders.
Clifton, Nicholas E. +10 more
core +3 more sources
Zfra Overrides WWOX in Suppressing the Progression of Neurodegeneration. [PDF]
Int J Mol SciWe reported that a 31-amino-acid Zfra protein (zinc finger-like protein that regulates apoptosis) blocks neurodegeneration and cancer growth. Zfra binds WW domain-containing oxidoreductase (WWOX) to both N- and C-termini, which leads to accelerated WWOX degradation.
Chen YA +5 more
europepmc +3 more sources
Neurobiology of Disease, 2021 Summary: Loss of function mutations of the WW domain-containing oxidoreductase (WWOX) gene are associated with severe and fatal drug-resistant pediatric epileptic encephalopathy.
Vanessa L. Breton +8 more
doaj +1 more source
BcCluster: a bladder cancer database at the molecular level [PDF]
, 2016 Background: Bladder Cancer (BC) has two clearly distinct phenotypes. Non-muscle invasive BC has good prognosis and is treated with tumor resection and intravesical therapy whereas muscle invasive BC has poor prognosis and requires usually systemic ...
Bhat, Akshay +5 more
core +3 more sources