Otosclerosis affects about 0.3% of population and it is among the most common cause of conductive hearing loss. Otosclerosis is highly familial, with positive family history reported in about 50% to 60% of cases. The disease is characterized by pathologic remodeling of the bone encasing the inner ear (otic capsule).
Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neuron disease, and it is pathologically related with frontotemporal dementia (FTD). Genetic studies have identified C9ORF72 as a major genetic cause of ALS/FTD. Further genetic analyses and validation studies have identified some other genes associated with ALS risk, highlighting among them the NUP50 gene, which encodes nuclear pore complex protein Nup50.
Outcomes after therapy with DNA-damaging agents such as irinotecan or oxaliplatin have been seen to improve in patients with homologous recombination-deficient colorectal cancer (HRD CRC) compared to those who have HR proficient CRC (HRP CRC).
Previous studies have demonstrated that increased expression of the granulocyte-macrophage colony-stimulating factor (GM-CSF) correlated with poor prognosis in patients with cholangiocarcinoma (CCA) and pancreatic ductal adenocarcinoma (PDAC). In the current study, a research team at the University of Rochester Medical Center aimed to assess the impact of blocking GM-CSFR signaling in CCA and PDAC.
While fecal immunochemical tests (FIT) are common strategies for colorectal cancer (CRC) screening, the potential use of blood-based biomarkers could provide an alternative method to increase compliance in population-based screening programs for early detection of CRC. Researchers from EDP Biotech Corp. aimed to identify novel blood-based biomarker candidates for use in CRC screening.
Recently, it has been found that loss-of-function of TPC2 alkalized melanosomes promoted pigmentation, while gain-of-function of TPC2 acidified melanosomes and inhibited melanin synthesis.
During metastasis, the mechanical properties of the nucleus make translocation of this organelle the rate-limiting step during constrained migration, and these properties are regulated through interactions between the cytoskeleton, integral nuclear envelope (NE) proteins, the nuclear lamina and chromatin.
Chemokine-like receptor 1 (CMKLR1) is a G protein-coupled receptor for chemerin and resolvin E1 that plays a key role in the recruitment and activation of macrophages, natural killer cells and plasmacytoid dendritic cells in inflammatory diseases.