A novel missense variant in associated with nonobstructive azoospermia.

The most severe type of male infertility is nonobstructive azoospermia (NOA), where there is no sperm in the ejaculate due to failure of spermatogenesis. The predictable frequency of NOA in the general population is one in 100 men. Genetic studies have recognized dozens of NOA genes.

A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia.

Objective: The most severe type of male infertility is non-obstructive azoospermia (NOA), where there is no sperm in the ejaculate due to failure of spermatogenesis, affecting 10%-20% of infertile men with azoospermia. Genetic studies have identified dozens of NOA genes. The main aim of the present study is to identify a novel monogenic mutation that may cause NOA.

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.

Study Question: Can whole exome sequencing (WES) reveal a novel pathogenic variant in asthenozoospermia in a multiplex family including multiple patients?

Summary Answer: Patients were discovered to be homozygous for a rare 2-bp deletion in the ADCY10 coding region (c.1205_1206del, rs779944215).

What Is Known Already: ADCY10 encodes for soluble adenylyl cyclase (sAC), which is the predominant adenylate cyclase in sperm.

Cloning and expression of nlpA gene as DNA vaccine candidate against Acinetobacter baumannii.

Acinetobacter baumannii is one of the highly antibiotic-resistant bacteria that cause infections with high rate of death. This bacterium is one the common causes of infection worldwide leading to endemic and epidemic nosocomial infections. Despite many efforts, there is no effective vaccine against A.

Cloning of gene from into the eukaryotic expression vector .

Antibiotic resistant features of is partly due to the decreased outer membrane proteins (OMPs) permeability. The OmpA is one of the most conserved proteins among with a considerable antigenic potential to stimulate the multidimensional immune system responses. The present study was aimed to clone the gene into the eukaryotic expression vector with potential as DNA vaccine.

Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.

JAG1 gene through Notch signaling is implicated in cell fate decisions in early cardiac development, and mutations in several proteins in the pathway have been involved in various disorders. Tetralogy of Fallot (TOF) is the most frequent form of complicated congenital heart disease. The abnormality of TOF begins through the first eight weeks of fetal growth and is confused with ventricular septal defects, obstruction to right ventricular outflow tract, aortic dextroposition, and right ventricular hypertrophy.

A Novel Loss-of-Function Mutation in Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have been identified in 5 unrelated families (12 patients) with HCFP worldwide.