Discovery of epigenetically silenced tumour suppressor genes in aggressive breast cancer through a computational approach. [PDF]
Vitte AL +10 more
europepmc +1 more source
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang +11 more
wiley +1 more source
Promoter polymorphisms in the JK*01 W.06 allele associated with the Jk(a + <sup>w</sup>) weak antigen phenotype. [PDF]
Liang S +7 more
europepmc +1 more source
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont +4 more
wiley +1 more source
A promoter library for tuning gene expression in <i>Cupriavidus necator</i> under autotrophic conditions. [PDF]
Kitagawa W +7 more
europepmc +1 more source
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer
Giulia Orlando +11 more
semanticscholar +1 more source
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos +17 more
wiley +1 more source
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears. [PDF]
Sun M +16 more
europepmc +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer +11 more
wiley +1 more source
MAGNETIC: a web server to fetch gene network based on motif distribution in promoters. [PDF]
Chakraborty A +4 more
europepmc +1 more source

