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genetic-variability
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Developmental barcoding of whole mouse via homing CRISPR
, Article Science ; Volume 361, Issue 6405 , 2018 ; 00368075 (ISSN) ; Kalhor, K ; Mejia, L ; Leeper, K ; Graveline, A ; Mali, P ; Church, G. M ; Sharif University of TechnologyChannelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis
, Article Neurology ; Volume 86, Issue 5 , 2016 , Pages 410-417 ; 00283878 (ISSN) ; Sadaghiani, S ; Park, M. T. M ; Mashhadi, R ; Nazeri, A ; Noshad, S ; Salehi, M. J ; Naghibzadeh, M ; Moghadasi, A. N ; Owji, M ; Doosti, R ; Hashemi Taheri, A. P ; Rad, A. S ; Azimi, A ; Chakravarty, M. M ; Voineskos, A. N ; Nazeri, A ; Sahraian, M. A ; Sharif University of Technology
Lippincott Williams and Wilkins
Abstract
Objective: To determine the motor-behavioral and neural correlates of putative functional common variants in the sodium-channel NaV1.8 encoding gene (SCN10A) in vivo in patients with multiple sclerosis (MS). Methods: We recruited 161 patients with relapsing-onset MS and 94 demographically comparable healthy participants. All patients with MS underwent structural MRI and clinical examinations (Expanded Disability Status Scale [EDSS] and Multiple Sclerosis Functional Composite [MSFC]). Whole-brain voxel-wise and cerebellar volumetry were performed to assess differences in regional brain volumes between genotype groups. Resting-state fMRI was acquired from 62 patients with MS to evaluate...
HLA alleles and haplotype frequencies in Iranian population
, Article Human Antibodies ; Volume 30, Issue 2 , 2022 , Pages 79-96 ; 10932607 (ISSN) ; Hussen, B. M ; Pashmforoush, S ; Akbari, M. T ; Arsang-Jang, S ; Nazer, N ; Hamidieh, A. A ; Hajifathali, A ; Dinger, M. E ; Sayad, A ; Dehaghi, M. O ; Sharif University of Technology
IOS Press BV
2022
Abstract
BACKGROUND: HLA genotyping is a prerequisite for selection of suitable donors in the process of bone marrow transplantation. METHODS: In the current study, the frequencies of HLA-A, -B, -C and -DRB1 alleles and A-B-C-DRB1 haplotypes were assessed in 855 healthy Iranian persons using a low-resolution sequence specific primer (SSP) kit. RESULTS: Frequencies were compared between 11 subpopulations including Armani, Balouch, Bandari, Turk, Turkaman, Arab, Fars, Kurd, Gilaki, Lor and Mazani. In total, 17 HLA-A alleles were detected, one of which (HLA-A*74) was present only among Lors. HLA-A*23 and -A*26 were the most frequent HLA-A alleles among Armanis. HLA-A*23 was also common among Turkamans....
Genetic risk variants for class switching recombination defects in ataxia-telangiectasia patients
, Article Journal of Clinical Immunology ; Volume 42, Issue 1 , 2022 , Pages 72-84 ; 02719142 (ISSN) ; Mehrmohamadi, M ; Ranjouri, M. R ; Akrami, S. M ; Rezaei, N ; Saberi, A ; Yazdani, R ; Abolhassani, H ; Aghamohammadi, A ; Sharif University of Technology
Springer
2022
Abstract
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T patients manifest considerable variability in clinical and immunological features, suggesting the presence of genetic modifying factors. A striking heterogeneity has been observed in class switching recombination (CSR) in A-T patients which cannot be explained by the severity of ATM mutations. Methods: To investigate the cause of variable CSR in A-T patients, we applied whole-exome sequencing (WES) in 20 A-T patients consisting of 10 cases with CSR defect (CSR-D) and 10 controls with normal CSR (CSR-N). Comparative analyses on modifier...