University of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Identification of TYR Whole Gene Deletion in a Patient With Oculocutaneous Albinismby Next Generation Sequencing30531010300210.22059/jsciences.2025.392219.1007917ENMohammad RezaPourreza1 Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of IranGhazaleDargahi2 Department of Genetics and Molecular Biology, Najafabad Branch, Islamic Azad University, Najafabad, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of IranMarziyehHoseinzadeh1 Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of IranNasibeTabibi3 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Islamic Republic of Iran. 5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of IranMohammad AminTabatabaiefar1 Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran. 4 Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Islamic Republic of Iran.
5 Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Islamic Republic of IranJournal Article20250316Oculocutaneous albinism (OCA) comprises a group of genetically heterogeneous, autosomal recessive disorders characterized by a partial or complete absence of melanin pigmentation in the skin, hair, and eyes, associated with visual impairment. In this study, we analyzed several genes in an Iranian male infant affected by OCA. Clinical investigations and laboratory evaluations were performed for the proband. A pedigree chart was also drawn. Genomic DNA was extracted from the proband and both parents. A targeted gene panel was sequenced by next-generation sequencing to identify pathogenetic variants. A deletion of exons 1–5 in the TYR gene was confirmed in the proband. Logically, the parents should be heterozygous for this mutation. The results of this research demonstrate the efficiency of targeted high-throughput sequencing in diagnosing heterogeneous disorders like OCA and detecting large genomic rearrangements. This deletion mutation may have resulted from an unequal crossing-over event in an ancestral lineage.https://jsciences.ut.ac.ir/article_103002_8228bc90411e263c0231be454013ee23.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Comparison Between HLA-B Allele Groups Among Peripheral Blood Stem Cell Donation Volunteers from Various Iranian Ethnicities31131910356310.22059/jsciences.2024.378778.1007869ENFatemehYari1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of IranFatemehSabaghi1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of Iran
2 Hematology Department, Faculty of Allied Medicine, Iran University of Medical Science, Hemmat Highway, Tehran, Islamic Republic of IranNadiaBagheri1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of IranAmirTeimurpour1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of IranMaryamZaman-Vaziri1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of IranFarzanehMortezapour Barfi1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of IranMaryamSobhani1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion, Tehran, Islamic Republic of IranJournal Article20240701This research included 2064 individuals from various ethnic groups in Iran, all hematopoietic stem cell donors. The primary goal of this research was to establish an HLA database and assess genetic diversity across different ethnicities. DNA was extracted using the magnetic method, and HLA-typing was performed at a low-resolution level using the PCR-SSP method. The results were analyzed manually by independent experts as well as through software. HLA data from four ethnic groups, including Gilak (n=510), Lur (n=465), Kurdish (n=719), and Arab (n=370), were examined for associations between alleles and ethnicity. Allele frequencies were assessed through statistical methods to identify significant relationships, with the significance level set at 0.05. Additionally, standardized residuals were calculated to determine which ethnic groups exhibited allele frequencies that exceeded expected values based on assumptions of independence. Among HLA-B alleles, HLA-B*35 and HLA-B*51 were found to have the highest frequencies, while HLA-B*67, *78, *81, *82, and *83 were absent in this research. Significant differences were observed in 17 alleles across the ethnic groups for HLA-B, with P< 0.05. Standardized residuals exceeding a threshold of 2 indicated statistically significant deviations between observed and expected values at the 0.05 significance level. All analyses were conducted using R software. Determining HLA allele frequencies helps identify similarities and differences among ethnic groups. This information can assist in developing donor services strategies in Iran's diverse regions and establishing stem cell registries. In the future, this data may also contribute to clinical applications in transplantation, vaccine development, and infectious disease research.https://jsciences.ut.ac.ir/article_103563_1edbbec4c484a18c08094d20a82ffbb6.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001On Projection Invariant Rickart Modules32132810429210.22059/jsciences.2025.379598.1007873ENYaserMaleki1 Department of Pure Mathematics, Faculty of Mathematical Sciences, Tarbiat Modares University, Tehran, Islamic Republic of IranAhmadMoussavi1 Department of Pure Mathematics, Faculty of Mathematical Sciences, Tarbiat Modares University, Tehran, Islamic Republic of IranYelizKaraBursa Uludag University,
Faculty of Arts and Science,
Department of Mathematics,
16059 Gorukle, Bursa/TURKEYJournal Article20240725This study examined π-Rickart modules, a module-theoretic analog of π-Rickart rings, from the perspective of their endomorphism rings. It is shown that π-Rickart conditions are located between π-e. Baer and p.q.-Baer conditions, and it is established that the corresponding endomorphism ring possesses the appropriate π-Rickart property. Besides, the notion of π-e.AIP modules is presented. Furthermore, connections to the aforementioned concepts of π-Rickart, endo-AIP, and π-e.AIP modules are examined.https://jsciences.ut.ac.ir/article_104292_b6e95991ea51508cfdd210b5c8912628.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001A New Bivariate Shock Model Covering All Degrees of Dependencies32933910356210.22059/jsciences.2025.386313.1007899ENHossienaliMohtashami-BorzadaranDepartment of Statistics, Faculty of Mathematical Sciences, Ferdowsi University of Mashhad, Mashhad, Islamic Republic of IranHadiJabbari NooghabiDepartment of Statistics, Faculty of Mathematical Sciences, Ferdowsi University of Mashhad, Mashhad, Islamic Republic of IranMohammadAminiDepartment of Statistics, Faculty of Mathematical Sciences, Ferdowsi University of Mashhad, Mashhad, Islamic Republic of IranJournal Article20241203This paper presents a bivariate distribution that improves the Marshall-Olkin exponential shock model. The new construction method enhances the model’s capacity to include a common joint shock across components, making it especially suitable for reliability and credit risk assessments. The model features a single component and supports negative dependence structures. We investigate the key dependence properties and conduct a stress-strength analysis. After evaluating the performance of the parameter estimator, chemical engineering data is analyzed.https://jsciences.ut.ac.ir/article_103562_012d39585a0e34d4f00ffd95dc3e6d6b.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Modeling Mortality in Heart Failure Patients: Considering Time-Varying Effects - A Bayesian Survival Analysis Utilizing Bayesian AFT Model with the INLA Method34134910300110.22059/jsciences.2025.379754.1007872ENVIJAYANSDepartment of Statistics, Periyar University, Salem, Tamil Nadu, India0009-0008-2614-8421KAVITHASDepartment of Statistics, Periyar University, Salem, Tamil Nadu, IndiaSaranyaVDepartment of Statistics, Periyar University, Salem, Tamil Nadu, IndiaJournal Article20240723Heart failure and disease ranks among the most common illnesses globally. Heart failure is a condition where the heart cannot pump blood efficiently, posing a growing global public health challenge with a high mortality rate. This study aimed to identify factors influencing the survival time of heart failure patients. Using secondary data, 299 heart failure patients were studied based on medical records from a 12-month enrollment period. The analysis employed Kaplan-Meier plots and Bayesian parametric survival models, utilizing SPSS and R software, with Integrated Nested Laplace Approximation methods. The Bayesian lognormal accelerated failure time model was deemed appropriate based on model selection criteria. The results indicated that factors such as age, gender, height, systolic and diastolic blood pressure, smoking, alcohol consumption, and the presence of heart disease significantly affected survival times. Cholesterol levels notably impacted survival outcomes in older patients. The Bayesian Weibull accelerated failure time model also described the survival data well. The study's findings suggested that the age groups 59 to 95 and above were most affected by heart failure, significantly impacting survival time.https://jsciences.ut.ac.ir/article_103001_57f9a815a1717c6d5656889ecb6b2804.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Preparation of Polymer Nanocomposites Containing Multiwall Carbon Nanotubes Functionalized by Chloroform Plasma35135710300310.22059/jsciences.2025.367159.1007834ENFathollahPourfayazSchool of Energy and Sustainable Resources Engineering, College of Interdisciplinary Science and Technology, University of Tehran, Tehran, Islamic Republic of IranAliGholamiSchool of Energy and Sustainable Resources Engineering, College of Interdisciplinary Science and Technology, University of Tehran, Tehran, Islamic Republic of IranJournal Article20231023The carbon nanotubes (CNTs) can more efficiently enhance the polymer properties than the other nanofillers due to their unique physical and chemical properties. However, the good dispersion of carbon nanotubes into the polymer matrices is challenging because the CNTs tend to form bundles and agglomerate due to strong van der Waals interactions between the nanotubes. The functionalization of carbon nanotubes can help solve this problem and lead to the good dispersion of CNTs in polymers. In this study, the multiwall carbon nanotubes (MWCNTs) were functionalized using dielectric barrier discharge plasma in helium saturated with chloroform. Then, the functionalized MWCNTs were used to prepare the polymer nanocomposites with a good dispersion state of nanotubes. Fourier transform infrared spectroscopy (FTIR) results showed that the MWCNTs' surfaces are functionalized with the chlorinated group due to exposure of the MWCNTS to the plasma. Moreover, the optical microscopy images and measured rheological properties of the nanocomposites indicated that the plasma-functionalized MWCNTs are better distributed into the polymer matrix than the unfunctionalized MWCNTs. This confirmed that the plasma functionalization enhances the interactions between the MWCNTs and the polymer matrices.https://jsciences.ut.ac.ir/article_103003_c1f9f3272e860e00f154d269aaad4418.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Author Index104293ENJournal Article20251019https://jsciences.ut.ac.ir/article_104293_50ca69dfba268d6aac0428ad2f052142.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Key words104294ENJournal Article20251019https://jsciences.ut.ac.ir/article_104294_ef82ba8f370457a15037d6168a3cd2fd.pdfUniversity of TehranJournal of Sciences, Islamic Republic of Iran1016-110435420241001Binder Fall 2024104295ENJournal Article20251019https://jsciences.ut.ac.ir/article_104295_9a7ed6248c8658139d671a1edafedc9e.pdf