ali mardi

Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A> T variant (p. K306 *) in exon 5 of the SLC3A1 gene. This variant results in the NMD phenomenon in which the protein product is not produced because of mRNA destruction. In 2020, blood sample of a 41-yr-old man from east Azerbaijan, Iran together with his parents were collected to be studied. PCR and direct sequencing were performed to detect the possible SLC3A1 variant. Whole-gene sequence analysis done by Mutation surveyor Software revealed a novel nonsense homozygous variant in exon 5 of the gene. Parental Sequence Analysis shows that they are heterozygous. According to ACMG guideline, this variant is considered as pathogen. Finding serious mutations can allow rapid screening for cystinuria by analyzing common mutations. It should also be considered as a pathogenic variant in patients’ cystinuria.

In animal models of inflammatory diseases, Mammalian sterile 20-like kinase 1 (Mst1) facilitates the programmed cell death as a novel pro-apoptotic kinase. This research aimed to determine the expression level of Mst1 gene in a rat model of SCI treated with valproic acid (VPA).

Severe rat model contusion was used for evaluation of the neuroprotective effect of valproic acid. The Basso-Beattie-Bresnahan test, was performed to determine locomotor functions. Hematoxylin/eosin staining and TUNEL assay were performed to detect cavity formation and apoptosis, respectively. The mRNA levels of the genes Mst1, nuclear factor (erythroid-derived 2)-like 2, and B-cell lymphoma 2 were evaluated, using quantitative real-time PCR acute spinal cord injury (RT-PCR).

The results revealed that Mst1 gene expression and TUNEL-positive cells in the VPA-treated group were significantly reduced as compared to the untreated group (p ≤ 0.05).

Our findings indicate that VPA has therapeutic potential and can be a candidate for the treatment of neurodegenerative disorders and traumatic injury as a promising drug.

Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.

In this summary, there is an effort to explain the concept of worship one and oneness in Islam and Sikhism. Sikhism is the youngest of the world religions and the doctrines of a monotheistic religion founded in the Punjab area of India in the fifteenth century by Guru Nanak and combining elements of Hinduism and Islam. A Sikh believes (EK ONKAAR) there is only One God. IK ONKAAR the most significant word used in the Sikh teachings. But believe in one God in Sikhism is the same Muslim's believe? However, some believe that the first part of this statement of faith (La ilaha illaLlah), expresses the absolute monotheism which is inherent in Islam “There is no god other than God." This is the essence of the Muslim profession of faith (shahadah). Pronouncement of the Islamic creed, the Shahadah, is the supreme religious act. Its mere recitation suffices for an entry into the "community of the believers." this is also rejection of polytheism, the destruction of idols, and the witness given to the one and unique God, the Lord and Creator of all that exists? (Mircea, Eliade, 1987:26("

The first step in the study of any religion is to have an overall picture of the beliefs and practices of that religion; since the detailed analysis of the concepts involved in the religion concerned will lead us to what is acknowledged by that religion. Every scholar of religion, it goes without saying, seeks to understand: the view of the religion he is studying on the world, creation, and its creator, the way in which the founder of that religion characterized himself, the way in which one can achieve salvation, the status of morals, the religious symbols, the rituals performed by its adherents, the most important scriptures, the number and distribution of its adherents, and so on. This involves a general overview of the religion concerned. The present paper is an attempt to provide a general overview of one of the world's youngest religions. This paper may be the first step in studying Sikhism as well as exploring its different aspects in detail.

Sikhism is regarded as one of the eastern religions, which was established by Guru Nanak who at first found followers in the state of Punjab over 500 years ago. Guru Nanak merely called on people to meditate on the teachings of their religion. He claimed that he was only preaching the Name of God. But what once had been founded as Sikhism gradually turned into a different religion with different beliefs, practices and scripture. Of course, Sikhism was not completely developed by Guru Nanak during his lifetime. In fact, Sikhism has more than one Guru, spiritual leader. Guru Nanak and his nine successors are the Sikh’s human Gurus each of whom has contributed to the development of Sikhism. One of the most important measures taken by the tenth Guru in the history of Sikhism is the appointment of the sacred scripture of Sikhism as the eternal Guru of the Sikhs, which has prevented internal divergence in Sikhism. This paper is concerned with a survey of these Gurus’ roles in the evolution of Sikhism towards its final formation.