Charcot-Marie-Tooth disease (CMT) is a group of neuropathies characterized by sensory and motor dysfunction that progress with aging. It is considered that about 60% of the axonal forms of the disease, such as CMT2, remain genetically undiagnosed.
Researchers from Wenzhou Medical University and affiliated organizations have published data from a study that aimed to investigate the relationship between the tumor suppressor microRNA-143 (miR-143) and RNA-binding protein Musashi homolog 2 (MSI2), the abnormal expression of which has been previously associated with cancer progression.
Gastric cancer persists as the fourth leading cause of cancer-related deaths. Syndecans (SDCs) are a family of four transmembrane heparan sulfate proteoglycans involved in cell proliferation, migration and adhesion, among others, and syndecan-4 (SDC4) expression has been shown to be up-regulated during the early stages of the gastric carcinogenesis.
Despite advances in diagnosis and treatment, cardiovascular disease remains the leading cause of death worldwide. Single-nucleotide polymorphisms (SNPs) in microRNAs are known to play important roles in acute coronary syndrome (ACS). MicroRNA 146a (miR-146a) is significantly upregulated in human atherosclerotic plaques and its circulating levels are elevated in patients with ACS, and was thus the focus of a recent study.
A study comprising a total of 406 subjects, including both healthy individuals (n=54) and patients with dry eye (DE) disease was performed with the aim of discovering basal tear cytokine markers for disease diagnosis and severity. Based on guidelines, patients with DE were classified as predisposed DE (pDE, n=136), mild-moderate DE (mDE, n=185), and severe DE (sDE, n=31).
Esophageal remodeling occurs during the development of eosinophilic esophagitis (EoE); syndecan-1, also known as CD138, is a cell surface marker involved in extracellular remodeling and it has been shown to be differentially expressed in tissue from patients with EoE compared to healthy esophageal tissue. University of North Carolina at Chapel Hill researchers conducted studies to validate serum CD138 levels as a noninvasive tool for the diagnosis of EoE.
The SLC6A6 gene encodes the transporter of the amino acid taurine. In recently presented work, researchers from the Institute of Molecular and Clinical Ophthalmology Basel, University of Basel and affiliated organizations aimed to investigate the molecular pathology of a novel mutation in SLC6A6 and its association with a syndromic form of Leber congenital amaurosis (LCA).
Neuroblastoma is among the deadliest cancers in infants, with frequent relapse and long-term survival being <10%. Recently, it has been found that protein RD3 is constitutively expressed in healthy adult and fetal tissues beyond the retina, and it follows a gradient expression from high to low levels in ganglioneuroma and neuroblastoma.