Pulmonary arterial hypertension (PAH), characterized by vasoconstriction and pulmonary vascular remodeling, has a 10% annual mortality rate among patients due to right heart failure. There are genetic variants known to impact the risk of PAH, but susceptibility from epigenetic changes is poorly understood.

From previous reports, there is evidence that cancer cells overexpress inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 (ITPRIPL1) to evade the immune system and promote tumor growth. Tissue samples from patients with non-small-cell lung cancer (NSCLC) were collected and used for studying the expression (intensity and extent) patterns of ITPRIPL1 and its diagnostic and prognostic value in this cancer type.

It is known that heterozygous mutations in the HBB gene, which encodes β-globin, are the cause of inherited β-thalassemia. A new case report describes a novel frameshift mutation in the HBB gene leading to a dominant form of β-thalassemia.

Researchers have defined an amyotrophic lateral sclerosis (ALS) reversal phenotype as having an initial diagnosis of ALS but subsequently showing a progressive and sustained clinical improvement, based on an unusual case they found.

MicroRNAs (miRNAs) play an important role in modulating neuronal stress responses, but their impact on neuroprotection has been poorly studied. Multiple sclerosis (MS) is the most common inflammatory disease affecting the central nervous system. Researchers have recently attempted to identify potential miRNAs that play a protective role in neuroinflammation.

CAMK2B encodes calcium/calmodulin-dependent protein kinase type II subunit β, a kinase expressed in the brain that has an important role in synaptic plasticity. Genetic variations are associated with neurodevelopmental disorders.