Search for: heterozygote
Article BioImpacts ; Volume 3, Issue 4 , 2013 , Pages 185-194 ; 22285652 (ISSN) ; Hormozi Nezhad, M. R ; Abadi, A ; Sanati, M. H ; Kazemi, B ; Sharif University of Technology
Introduction: Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN). A critical nucleotide difference in SMN2 compared to SMN1 gene leads to an inefficient protein. Hence, homozygous lack of SMN1 provides a progressive disease. Due to the high prevalence, up to now, several molecular diagnostic methods have been used which most of them are lengthy, expensive, and laborious. Methods: In the present study, we exploited a gold nanoprobe-based method for semi-quantitative SMN1 gene dosage analysis compared to SMN2. The assay was...
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
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...
A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase, Article Clinical Biochemistry ; Volume 90 , 2021 , Pages 66-72 ; 00099120 (ISSN) ; Nourbakhsh, M ; Vafadar, M ; Nourbakhsh, M ; Talebi, S ; Sharifi Zarchi, A ; Salehi Siavashani, E ; Garshasbi, M ; Sharif University of Technology
Elsevier Inc 2021
Background: A small amount of methanol is produced endogenously in the human body but it is efficiently metabolized by alcohol dehydrogenase (ADH) and other enzymes, and the products eliminated without harm. In this study, we present a new entity of inborn error of methanol metabolism due to a mutation in the ADH1C gene coding for the γ subunit that is part of several ADH isoenzymes. Results: This disorder was discovered in an 11.58-year-old boy. During one 9-month hospital admission, he had periods of 1–4 days during which he was comatose, and between these periods he was sometimes verbose and euphoric, and had ataxia, dysarthria. Following hemodialysis treatments, he became conscious and...