Introduction: The cystic fibrosis transmembrane conductance regulator (CFTR) chloride (Cl−) channel is an essential component of epithelial Cl− transport systems in many organs. CFTR is mainly expressed in the lung and other tissues, such as testis, duodenum, trachea and kidney. The ubiquitin ligase neural precursor cells expressed developmentally down-regulated protein 4-2 (Nedd4-2...

Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

Background: Chlamydia (C.) trachomatis is an obligate intracellular gram-negative pathogen affecting over 600 million people worldwide with 92 million new cases occurring globally each year. Genital C. trachomatis infection has been recognized as the most common cause of pelvic inflammatory disease leading to severe tubal damage, ectopic pregnancy, hydrosalpinx and infertility. However, the mec...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

introduction: the cystic fibrosis transmembrane conductance regulator (cftr) chloride (cl−) channel is an essential component of epithelial cl− transport systems in many organs. cftr is mainly expressed in the lung and other tissues, such as testis, duodenum, trachea and kidney. the ubiquitin ligase neural precursor cells expressed developmentally down-regulated protein 4-2 (nedd4-2) has previo...

background: cystic fibrosis (cf) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene. cf is also the most frequently inherited disorder in the west. the aim of this study was to detect the mutations in the cftr gene in two iranian families with cf. methods: after dna extractio...

Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...

cystic fibrosis (cf) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (cftr) protein. the frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. the aim of this study was to perform a comprehensive analysis of the c...