Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Background: Bone Morphogenetic Proteins and the related Growth and Differentiation Factors (GDFs) are much conserved signaling proteins. GDF5 is pivotal for skeletal development. Several skeletal dysplasia and malformation syndromes are known as a result of mutations in .

Tuberculosis in Human Bones from 4000 Years Ago, Iran.

Background: Tuberculosis is caused by a bacterium called Mycobacterium tuberculosis, which is a contagious and infectious disease; in the first stage, it destroys the lungs and in the next stage other body organs, such as the spine and long bones. This disease is transmitted through an infected person and due to the weakness of the immune system, the infection intensifies. Tuberculosis has two stages: low activity and high activity.

Tracking of Infectious Diseases and Deadly Injuries through Signs Observed in Excavated Human Skeletons of 2000 BC/Iron Age in Iran.

Background: Throughout history, many wars have occurred for various reasons, and many empires and kings have fallen or many people killed by wars. Wars were not always due to the conquest of the country. in the Iron Age, societies were governed by tribes at the head of the tribe, and war was only for to seize property, slaves, and food.

Investigation of and of Gene in Individuals with Late-Onset Alzheimer's Disease in Iran.

Background: We aimed to investigate two polymorphisms, and of in Alzheimer's disease (AD).

Methods: In the present case-control research, we collected blood samples from 117 AD patients and 130 controls from Alzheimer's Hospital, residents of Tehran, Iran during the winter 2020 to autumn 2022. Following extraction of DNA, Genotyping of polymorphisms and were examined by sequencing and ARMS/PCR approaches.

Oral Infections in Ancient Human Skulls in 2000 BC/Iron Age, Iran.

Background: Oral infections have been seen in humans since ancient times. Excessive penetration of this infection can cause human death. Most of these infections are gum cysts and abscesses.

Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.

Holoprosencephaly, a complicated brain abnormality arising from incomplete prosencephalon cleavage, affects both the forebrain and the face. Holoprosencephaly Type 11, with variable expression or partial penetrance, is caused by pathogenic variants associated with the disrupted Sonic Hedgehog ()-pathway. Herein, we aimed to describe a family with genetic nose problems.

Executive Functions and Public Health: A Narrative Review.

Executive functions (EFs) skills are necessary for regulating the thoughts, emotions, and actions which are associated with many aspects of daily functioning. Executive dysfunction (EDFs) is present in a wide range of mental disorders. New study indicates that EFs may predict health behavior and make it easier to engage in a variety of healthy activities.

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Objectives: Hearing loss is one of the most common heterogeneous complicated disorders worldwide. We previously analyzed the results of published data on non-syndromic hearing loss in the Iranian population systematically. A broad range of genes is a challenge for molecular screening and clinical diagnosis in our populations on the ground of distinct genetics.

CRISPR/Cas9 Gene Knockout in Medullary Thyroid Carcinoma Cell-lines: Optimization and Validation.

Background: Medullary Thyroid Cancer (MTC) is a very aggressive type of thyroid carcinoma. Mutation in proto-oncogene is demonstrated in MTC development. We aimed to knock-out of -oncogene using CRISPR/Cas9 genome editing method in MTC cell-lines.

Using Non-Invasive Methods to Choose Gender; Sex Selection with Diet and Determination of Ovulation Time in Iran.

Background: Families, especially fathers, are continuously interested in selecting the child's sex in most societies. This study was conducted to Use non-invasive methods to choose gender in order that sex selection with diet and determination of ovulation time in Iran.

Methods: This study was a clinical experimental trial of convenient samples conducted as a retrospective study.

SARS-COV-2 Notable Mutations and Variants: A Review Article.

SARS-COV-2 (COVID-19) the virus that caused an epidemic of sever acute respiratory syndrome is what the world has been dealing with since Dec 2019. As the pandemic continues different variants that emerge during mutations have become the latest concern, with notable examples detected in South Africa, Brazil, and UK. Variants are complicated and each one is a collection of several mutations, all of which have the potential to change the virus in unexpected ways.

Genetic Investigation of 261 Cases of Turner Syndrome Patients Referred to the Genetic Clinic.

Background: Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant's factors and TS occurrence.

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.

Background: Microcephaly is a prominent feature of patients with primary autosomal recessive microcephaly 2 (MCPH2) caused by mutations in the WD Repeat Domain 62 (WDR62; OMIM: 613,583).

Aim: The study aimed to identify the underlying genetic factor(s) causing microcephaly in two patients in a consanguineous Iranian family.

Methods: Two male patients (11 and 27 years old) were noticed due to microcephaly, neurodevelopmental delay, and occasional seizures.

In-Vitro Fertilization Impact on the Risk of Breast Cancer: A Review Article.

Background: Due to the increasing prevalence of infertility, the number of referrals to infertility treatment centers has also increased. Nowadays, assisted reproductive technology (ART), including in vitro fertilization (IVF), is a treatment for infertility or genetic problems. Considering the possible consequences of this method among women undergoing in vitro fertilization (IVF) and kids conceived by IVF, extensive research has been conducted in this regard.

CRISPR Pioneers Win 2020 Nobel Prize for Chemistry.

Over the last few years, the development of genome editing has revolutionized research on the human genome. Recent advances in developing programmable nucleases, such as meganucleases, ZFNs, TALENs and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas, has greatly expedited the progress of gene editing from concept to clinical practice. The CRISPR has advantages over other nuclease-based genome editing tools due to its high accuracy, efficiency, and strong specificity.

Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 () gene encodes Connexin31 protein (Cx31). The hereditary type of hearing impairment in this gene are known to cause both autosomal recessive and autosomal dominant form.