The WW domain binding protein 4 (WBP4) is part of the early spliceosomal complex, and it has been previously shown to enhance splicing both in vitro and in vivo, as well as to regulate alternative splicing. At the ESHG meeting, researchers from Hebrew University of Jerusalem presented data from a study that aimed to delineate WBP4 in the context of human pathologies.
Researchers from Universität zu Köln have published data from a study that investigated the pathophysiology of disabling pansclerotic morphea (DPM), and as such, gain better understanding of the much larger range of disorders characterized by poor wound healing and severe, unchecked fibrosis.
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.
There is still a lack of specific biomarkers in biliary epithelial cells of patients with primary sclerosing cholangitis (PSC). Investigators from the...
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).
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