Germline variants that did not affect gene function nevertheless affected multiple aspects of breast cancer risk, via their visibility to the immune system and its reactions. Perhaps most surprisingly, the same genetic constellations that were protective at the very earliest stage of breast cancer, stage 0 or ductal carcinoma in situ, were associated with worse outcomes once a tumor had become invasive.
Alternative splicing is known to play an important role in tissue development. Scientists at Brigham and Women’s Hospital have looked into the association between a chronic obstructive pulmonary disease (COPD) genetic variant and cell-specific splicing of putative ciliary rootlet coiled-coil protein-like 1 protein (CROCCP2).
The maintenance of mitochondrial homeostasis plays a crucial role in tumor cell survival and growth. Mitochondrial integrity is regulated by proteins in the mitochondrial inner membrane, such as prohibitin (PHB). PHB has been found overexpressed in several cancer types and contributes to tumorigenesis.
Acute respiratory distress syndrome (ARDS) is a multifactorial disease, the pathogenesis of which involves environmental exposure and genetic predisposition.
Based on findings from recent studies that have identified MUC5AC in mice infected with the nematode Trichuris trichiura and during colitis, researchers from Medical University of South Carolina aimed to assess the effects of Clostridioides difficile infection on MUC5AC in the intestinal mucosa.
Idiopathic pulmonary fibrosis (IPF) is a disease in which several unique genes have shown expression in the lung tissue of patients with IPF. Previous findings had found the mRNA expression of band 4.1-like protein 3 (EPB41L3) to be 14-fold higher in lung fibroblasts from patients with IPF compared to control subjects.
About 50% of patients with small intestine neuroendocrine tumors (SI-NETs) have their prognosis negatively impacted by the development of mesenteric fibrosis, but the mechanisms behind these are poorly understood. In work at Sun Yat-sen University, single-cell RNA sequencing was performed on five primary tumor specimens and their corresponding adjacent nontumoral tissues.
Breast cancer is a heterogenous disease in terms of its prognosis and treatment response. Metabolic reprogramming is a potential therapeutic target because of its repercussion on oncogenesis.
Researchers from Tokyo Medical University presented data from a study that assessed microRNA (miRNA) profiles in extracellular vesicles (EVs) isolated from vitreous humor and serum of patients with ocular sarcoidosis and vitreoretinal lymphoma (VRL).
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