the toll-like receptor 4 (tlr4) is an innate immune protein on cell surfaces that identifies lipopolysaccharide (lps) of gram-negative bacteria. genetic markers associated with innate responses during mastitis could help in selection of cattle to improve disease resistance. the objective of this study was to determine the association between tlr4 gene and clinical mastitis, using selective geno...

Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...

background: leishmaniasis is a protozoan disease cause by leishmania genus. anthroponotic and zoono­tic cutaneous leishmaniasis are endemic in iran. the aim of this study was to identify the causative agent of cutaneous leishmaniasis by mini-exon gene in five regions of khuzestan province, southwest of iran. methods: from 2007 to 2008 in this cross-sectional study, cutaneous samples were collec...

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

ataxia telangiectasia (at) is an autosomal recessive multi-system disorder, characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and increased susceptibility to malignancies. this study was designed to study the role of pro-apoptotic bak, bax, nbk/bik genes in a group of patients with at to elucidate the possible role of these genes in progr...

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

background: wilson disease (wd) is caused by numerous pathogenic mutations of the atp7b gene. there are several mutation screening methods that can be used for the diagnosis and carrier detection of wd, however such methods are costly and time-consuming. therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. objective: to report common polymorphisms...

abstract background von willebrand disease (vwd) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. the disease phenotype is due to quantitative and structural/functional defects in von willebrand factor (vwf) which is a glycoprotein with essential role as a carrier of fviii in circulation and also it serves the function as hemostasis regulator....