Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms.

Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. This condition leads to the gradual development of bronchiectasis and, ultimately, respiratory failure, emerging as the primary cause of mortality in individuals diagnosed with CF. Diagnosis is done depending on the patient's symptoms and lung radiological findings like chest X-rays and CTs.

Polymorphism in drug transporter gene ABCB1 is associated with drug resistance in Pakistani epilepsy patients.

Despite the best possible medication and treatment protocols, one-third of epilepsy patients have drug resistance which is associated with an elevated risk of mortality and debilitating psychological consequences. P-glycogen encoded by ABCB1 is major drug transporter for a wide variety of AED. To evaluate the complex haplotypic association, genetic and allelic frequency distribution of rs1128503, rs1045642, and rs2032582 polymorphisms of ABCB1 gene with drug resistance in Pakistani pediatric epilepsy patients, we performed this study.

RUNX1 mutation and elevated FLT3 gene expression cooperates to induce inferior prognosis in cytogenetically normal acute myeloid leukemia patients.

Background: Acute myeloid leukemia (AML) is a bone marrow malignancy having multiple molecular pathways driving its progress. In recent years, the main causes of AML considered all over the world are genetic variations in cancerous cells. The RUNX1 and FLT3 genes are necessary for the normal hematopoiesis and differentiation process of hematopoietic stem cells into mature blood cells, therefore they are the most common targets for point mutations resulting in AML.