abstract

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among ...

Herein we report a 6-year-old Afghans patient referred to Department of Dermatology, St. AL-Zahra Hospital in Isfahan with ulcerative and nodular lesions disseminated over the face, arms, buttocks, pelvic girdle and legs in 2002. Direct smears of the lesions were positive for Leishman bodies. Leishmanin skin test was negative. He also had dactylitis in some digits and toes. PCR from bone biopsy...

The present study aims to examine the genetic variation of ATP1B1 gene concerning hypertension and chronic kidney disease CKD. (120 ) blood samples from participants were obtained divided into three groups: a first group representing hypertensive patients (hyper), second Hypertensive CKD (hyper with CKD), third control group. DNA was extracted all then converted cDNA ARMS-PCR technique used inv...

Plakoglobin (gamma-catenin) and beta-catenin are pivotal components of cell-cell adherent junctions that link cadherin receptors to the actin cytoskeleton. Whereas beta-catenin overexpression induces cell proliferation and tumor formation, plakoglobin induces tumor suppressor activity. We investigated the expression of plakoglobin in alveolar (ARMS) and embryonal (ERMS) rhabdomyosarcoma (RMS) c...

BACKGROUND The A3243G mitochondrial tRNA leu(UUR) point mutation causes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the most common mitochondrial DNA (mtDNA) disorder, and is also found in patients with maternally inherited diabetes and deafness syndrome (MIDD). To correlate disease manifestation with mutation loads, it is necessary to mea...