Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples

Association of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP)

Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form‌ of colorectal cancer and an autosomal dominant inheri...

missense and nonsense mutations of p53 gene in patients with colorectal adenocarcinoma in isfahan, central iran

Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia

Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...

Missense and Nonsense Mutations of P53 Gene in Patients with Colorectal Adenocarcinoma in Isfahan, Central Iran

Dear Editor, The colorectal cancer is the forth prevalent cancer worldwide. The incidence and mortality of colorectal cancer (CRC) in men and women has been estimated more than 1.233 million cases and nearly 610000 deaths annually respectively It is also the forth prevalent cancer in Iran. The CRC occurrence is correlated with genetic and non-genetic factors such as missense and non-missense mu...

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

The structure of the gene for protein C, an anticoagulant serine protease, was analyzed in 29 unrelated patients with hereditary thrombophilia and protein C deficiency. Gene deletion(s) or gross rearrangement(s) was not demonstrable by Southern blot hybridization to cDNA probes. However, two unrelated patients showed a variant restriction pattern after Pvu II or BamHI digestion, due to mutation...