Restrictive cardiomyopathy (RCM) is a rare cause of heart muscle disease with the highest mortality rate among cardiomyopathy types. The etiology of RCM is poorly understood, although genetic causes have been implicated, and syndromic associations have been described. Here, we describe a patient with an atrial septal defect and restrictive cardiomyopathy along with craniofacial anomalies and in...

Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was to determine the existence of 1p36 m...

Background: Sperm chromatin insufficiencies leading to low sperm count and quality, infertility and transmission of chromosomal microdeletion and aneuploidies to next generations can be due to exposure to environmental pollutions, chemicals and natural or manmade ionizing radiation. In this project which has continued for more than 10 years and is unique in many technical aspects in Iran and in...

Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path bacterial artificial chromosome microarray to identify submicroscopic chromosomal rearrangements...

BACKGROUND Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved i...

The human Y chromosome harbours genes that are essential for spermatogenesis. Most of these genes lie in the male-specific region (MSY) of Y chromosome. Microdeletions of AZF within the MSY have been reported in infertile men. Widely different frequencies of such deletions (0-55%) have been reported from different populations. TSPY is another gene located in the MSY region that plays a signific...

background: in human, about 25% of implanted embryos are losing 1-2 week following attachment to the uterus. a subset of this population will have three or more consecutive miscarriages which define as repeated pregnancy loss (rpl). introducing the assisted reproductive technologies (arts) made a chance for infertile couples to solve their childless problem. objective:  this study was conducted...

Despite the well-established role of the human serotonin transporter (hSERT) in the treatment of depression, the molecular details of antidepressant drug binding are still not fully understood. Here we utilize amber codon suppression in a membrane-bound transporter protein to encode photocrosslinking unnatural amino acids (UAAs) into 75 different positions in hSERT. UAAs are incorporated with h...