Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation

downregulation of calcineurin gene is associated with glucantime(®) resiatance in leishmania infantum.

background: pentavalent antimonials are the first line drugs for the treatment of leishmaniasis. unresponsiveness of leishmania spp. to antimonial drugs is a serious problem in some endemic areas. investigations on molecular mechanisms involved in drug resistance are essential for monitoring and managing of the disease. cal-cineurin is an essential protein phosphatase for number of signal trans...

Common Genetic Variant of insig2 Gene rs7566605 Polymorphism Is Associated with Severe Obesity in North India

Background: Obesity is a very common disorder resulting from an imbalance between food intake and energy expenditure, and it has a substantial impact on the development of chronic diseases.  The aim of this study was to examine the association of INSIG2 (rs7566605) gene polymorphism with obesity and obesity associated phenotypes in North Indian subjects. Methods: The variants were investig...

The 763C>G Polymorphism of The Secretory PLA2IIa Gene Is Associated with Endometriosis in Iranian Women

In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene

Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...

Screening of two closed mutations in CFTR gene of Iranian infertile men with non-obstructive azoospermia

Background The genetic association between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and male infertility due to congenital bilateral absence of vas deferens (CBAVD) is well established. Mutant CFTR, however may also be involved in the etiology of male infertility in non-CBAVD cases. The present study was conducted to estimate the frequency of ΔI507 and ΔF508 CFT...