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).
Researchers from Augusta University recently presented data from a study that aimed to assess the role of acetyl-CoA acetyltransferase (ACAT1) in neurovascular damage during diabetic retinopathy (DR).
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.
Bone development is a continuous process, but in some cases, soft tissues can mineralize due to some anomalies in repairing processes, thus leading to heterotopic ossification (HO). Max Planck Institute for Molecular Genetics researchers aimed to find the genetic causes tied to this abnormal bone-formation disorder.
Investigators from the National Institute of Allergy and Infectious Diseases have reported data on a series of 3 patients with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, with 2 of them developing liver fibrosis in the first year of their lives.
Congenital anomalies of the kidneys and urinary tract (CAKUT) remain the main cause of chronic kidney disease before the age of 25 years, and account for about 40% of childhood end-stage renal diseases. Studies in Xenopus species have shown ENPP6 knockdown to lead to impaired pronephros development, and mutations in the ENPP6 paralogue PIGN gene have been tied to CAKUT.
Alternative splicing aids in maintaining the complexity of the transcriptome in higher organisms, and small nuclear RNAs (snRNAs), which are major components of the spliceosome, are processed by the integrator complex. Dysfunctions of integrator complex lead to immature snRNA production and may result in secondary defects in mRNA splicing.
Primary biliary cholangitis (PBC) is the most common autoimmune liver disease; several genome-wide association studies have suggested chromosome locus 19p13.3 is associated with PBC pathology. Chinese researchers conducted a case-control study to unveil genetic variants in the 19p13.3 locus associated with PBC. The meta-analysis included 1,931 individuals with PBC and 7,852 controls.
COVID-19 complications involve activated T cells that contribute to inflammation. Foralumab, a fully human anti-CD3 monoclonal antibody, targets the T-cell receptor and regulates T-cell function to suppress inflammation. In a pilot trial, foralumab reduced lung inflammation, serum IL-6 and C-reactive protein in cases of moderate COVID-19.
Researchers from Shanxi Medical University and affiliated organizations presented data from a study that aimed to analyze the expression and prognostic value of mitochondrial-related genes in patients with stomach adenocarcinoma (STAD).
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