Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Background: Plectinopathy-associated disorders are caused by mutations in the gene encoding Plectin protein. mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.

Identification of a Missense Mutation in Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.

Purpose: To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family.

Methods: The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected individuals, were recruited in this study.

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Background: Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ultra-rare with only four families with biallelic COL9A3 variants reported to date.

The effect of counseling on women's coping with unplanned pregnancy.

Introduction: The responses to a life-changing event can be different. The study aimed to determine the effect of counseling on coping strategies among women facing unplanned pregnancy.

Methods: This quasi-experimental study was conducted on 70 unplanned pregnant women with a gestational age <10 weeks, who scored ≥ 15 in the avoidance pattern of Revised Prenatal Coping Inventory (NU-PCI).

Evaluating the Association between Polymorphism (rs333) and the Risk of Breast Cancer in a Cohort of Iranian Population.

Background: CC chemokine receptor 5 () is introduced as an immune response modulator. The activity of CCR5 influences breast tumour development in a p53-dependent manner. This study aimed to investigate the frequency of and its association with the risk of breast cancer in 1038 blood samples in North East of Iran.

Association of PICK1 and BDNF variations with increased risk of methamphetamine dependence among Iranian population: a case-control study.

Background: Genetic factors play an important role in susceptibility to methamphetamine dependency. In this line, protein that interact with C-kinase-1 (PICK1) and brain-derived neurotrophic factor (BDNF) genes are linked to methamphetamine dependence (substance use disorder). Thus, in a case-control study, we investigated the association between polymorphisms of PICK1 and BDNF genes and methamphetamine dependence in an Iranian population.

Association of and polymorphisms and their association with breast cancer risk among Iranian population.

TOX3 and FOXA1 proteins are believed to be involved in the susceptibility of breast cancer. and , as single nucleotide polymorphisms (SNPs), located at the may affect the FOXA1 DNA binding sequence change and therefore may enhance the FOXA1-binding affinity to the promoter of gene. This study aimed to investigate the association of these SNPs/haplotypes with breast cancer susceptibility in an Iranian population.

Regulators and mechanisms of anoikis in triple-negative breast cancer (TNBC): A review.

Metastasis leads to poor prognosis and reduced disease-free survival in breast cancer patients, particularly in those with triple-negative breast cancer (TNBC) which is resistant to common treatments. Anoikis is a type of apoptosis commenced by the detachment of cells from the native extracellular matrix and prohibits the attachment of detached cells to other body organs. Resistance to anoikis is a critical culprit in the development and progression of tumours.

Green tea improves rat sperm quality and reduced cadmium chloride damage effect in spermatogenesis cycle.

Testicular tissue is part of the reproductive system that some mineral compounds such as cadmium chloride (CdCl) destroy. Green tea (Camellia sinensis) extract can reduce the tissue damage caused by toxins due to its antioxidant properties. The aim of this study was to evaluate the effect of green tea extract on sperm quality in cadmium chloride toxicity.

Significant association of TOX3/LOC643714 locus-rs3803662 and breast cancer risk in a cohort of Iranian population.

Genome-wide association studies normally focus on low penetrance and moderate to high-frequency single nucleotide polymorphisms (SNPs), which lead to genetic susceptibility to breast cancer. In this regard, the T allele of rs3803662 has been associated with breast cancer risk and with lower expression level of TOX3. We aimed to assess the risk of breast cancer associated with this polymorphism in an Iranian population.