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).
RHOJ, a small GTPase, could hold the key to the survival of tumor cells during cancer treatments. When epithelial cells transformed into mesenchymal cells, the Rho-related GTP-binding protein RhoJ regulated their resistance to chemotherapy. The scientists observed this mechanism in mouse models of skin squamous cell carcinoma, but their results could go beyond just one type of cancer. When the team started its experiments, which were published March 23, 2023, in Nature, “I had never heard about RHOJ before,” the lead author Cédric Blanpain told BioWorld. Blanpain is the director of the Laboratory of Stem Cells and Cancer at the Université Libre de Bruxelles (ULB).
The role that mitochondrial inner membrane protein (IMMT) has in regards to clinicopathology and tumor microenvironment in breast cancer in unclear. IMMT is part of the mitochondrial contact site and cristae organizing system (MICOS) and its function is to maintain mitochondrial integrity.
Researchers from Baylor College of Medicine presented data from postnatal testing with the aim of providing molecular diagnosis for a patient with prenatally diagnosed heterotaxy syndrome.
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
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