The CEP250 gene encodes centrosome-associated protein CEP250, involved in the formation of active centrosome components and cell cycle progression. CEP250 has been previously implicated in atypical Usher syndrome, which is characterized by early-onset hearing loss and mild retinitis pigmentosa.
The occurrence of acute ischemic stroke impacts the immune landscape in the lungs, leading to peripheral immune activation, which can contribute to cerebral reperfusion injury.
Gray platelet syndrome is an autosomal recessive platelet disorder characterized by macrothrombocytopenia and deficiency or decreased levels of alpha granules that confer a grayish appearance to the platelets. The genetic cause is located at chromosome locus 3p21, affecting the NBEAL2 gene.
Previous research has suggested that factor VIII (FVIII) can regulate the osteoprotegerin (OPG)/RANKL system, which appears to play a role in hemophilic arthropathy. Investigators have now aimed to measure the OPG levels in patients with hemophilia A/B and assess their correlation with the levels of FVIII/FIX.
Glanzmann thrombasthenia (GT) is a rare bleeding disorder caused by defects in the expression of platelet surface integrins, such as integrin alpha-IIb (GPIIb, encoded by ITGA2B).
Osteoarthritis (OA) is the most common joint disease and a leading cause of disability worldwide. Its treatment is still elusive due to difficulties with early diagnoses and patient risk identification. This leads to a need for reliable biomarkers for OA prognosis or to identify patients at risk of progression.
Cells that break away from a tumor and colonize other regions of the body express genes that are different from those of the cancer from which they originate. Now, a Baylor College of Medicine study has found that metastases can be classified into four cancer subtypes regardless of the primary cancer. This finding describes which genes are active in each one, making it possible to establish the most appropriate treatments for each patient according to the subtype of metastasis they have developed.
Androgen deprivation therapy (ADT) is still the main treatment option for locally advanced and metastatic prostate cancer (PCa); however, most patients receiving ADT develop resistance to treatment and relapse, with a more aggressive form of cancer, castration-resistant prostate cancer (CRPC).
Heart failure still remains a leading cause of death worldwide. Improving risk stratification and prognostic analysis tools is required to aid in the management of the disease.
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).
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