N-acetyltransferase 10 (NAT10) is an RNA cytidine acetyltransferase involved in multiple biological processes, such as inflammatory responses or osteogenic differentiation, and linked to pathological states such as asthma, viral infections, cancer, or laminopathies.
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare multisystemic congenital myopathy that mainly affects males, and which is incompletely understood genetically speaking.
There is a strong relationship between heart failure (HF) and atrial fibrillation (AF): half of the patients with HF acquire AF. Recent studies discovered a genetic basis underlying AF, which demonstrated a strong heritable component to this disease.
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.
Radiotherapy resistance and metastasis are among the top risk factors for refractory oral squamous cell carcinoma (OSCC), the mechanisms of which must be elucidated, plus there is a lack of biomarkers to predict response.
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.
Researchers from West China Hospital of Sichuan University presented data from a study that aimed to investigate the associations between serum cystatin C (CysC) levels and the progression and survival of patients with amyotrophic lateral sclerosis (ALS).
University of Oxford scientists have presented data from deep proteomics of cerebrospinal fluid (CSF) in search of proteins with diagnostic or prognostic value in amyotrophic lateral sclerosis (ALS). Analysis was performed using CSF samples from 40 ALS patients, 15 controls (healthy individuals) and 8 mimicking conditions.
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.
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