background: in 1997 mmac1 or the pten gene, was identified as a tumor suppressor gene on the long arm of chromosome 10.pten involves in the balance between proliferation, and differentiation, apoptosis and regulation of angiogenesis, and eventually mutation in this gene causes a strong potential for tumorigenesis cells. this study is the first report of the correlation between pten gene mutatio...

background: clarithromycin resistance in helicbacter pylori has been found to be associated with point mutations in 23s rrna gene leads to reduced affinity of the antibiotic to its ribosomal target or changing the site of methylation. the aim of this study was to determine the most important point mutations in 23s rrna gene in h. pylori that are closely related to clarith-romycin resistance amo...

Background & Objective: Mutations in embB306 gene and their association with resistance to ethambutol (EMB) in Mycobacterium tuberculosis (M. tuberculosis) have not been fully investigated. The aim of this study was to investigate the point-mutations in emb306B gene and their association with resistance to EMB in M. tuberculosis. Materials & Methods: This case (M. tuberculosis resistant to EMB...

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...

Myostatin is a growth factor belonging to the TGFß superfamily. TGFß growth factors are active in the regulation of embryonic development and in tissue homeostasis in adults. Myostatin is a growth factor controlling proliferation of myoblasts in embryonic development. Mutations in coding sequences of the bovine myostatin (GDF8) gene lead to muscle hyperplasia suggesting its inhibitory function ...

Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...

mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...

objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...