Search for: gene-mutation
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans, Article American Journal of Human Genetics ; Volume 108, Issue 2 , 2021 , Pages 324-336 ; 00029297 (ISSN) ; Jiao, Y ; Khan, R ; Jiang, X ; Javed, A. R ; Ali, A ; Zhang, H ; Zhou, J ; Naeem, M ; Murtaza, G ; Li, Y ; Yang, G ; Zaman, Q ; Zubair, M ; Guan, H ; Zhang, X ; Ma, H ; Jiang, H ; Ali, H ; Dil, S ; Shah, W ; Ahmad, N ; Zhang, Y ; Shi, Q ; Sharif University of Technology
Cell Press 2021
Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged couples worldwide. However, the genetic causes of human infertility are still poorly understood. Synaptonemal complex (SC) is a conserved tripartite structure that holds homologous chromosomes together and plays an indispensable role in the meiotic progression. Here, we identified three homozygous mutations in the SC coding gene C14orf39/SIX6OS1 in infertile individuals from different ethnic populations by whole-exome sequencing (WES). These mutations include a frameshift mutation (c.204_205del [p.His68Glnfs∗2]) from a consanguineous Pakistani family with two males suffering from non-obstructive...
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...
Type V collagen in scar tissue regulates the size of scar after heart injury, Article Cell ; Volume 182, Issue 3 , 2020 , Pages 545-562.e23 ; McCourt, J ; Ma, F ; Ren, S ; Li, S ; Kim, T. H ; Kurmangaliyev, Y. Z ; Nasiri, R ; Ahadian, S ; Nguyen, T ; Tan, X. H. M ; Zhou, Y ; Wu, R ; Rodriguez, A ; Cohn, W ; Wang, Y ; Whitelegge, J ; Ryazantsev, S ; Khademhosseini, A ; Teitell, M. A ; Chiou, P. Y ; Birk, D. E ; Rowat, A. C ; Crosbie, R. H ; Pellegrini, M ; Seldin, M ; Lusis, A. J ; Deb, A ; Sharif University of Technology
Cell Press 2020
Scar tissue size following myocardial infarction is an independent predictor of cardiovascular outcomes, yet little is known about factors regulating scar size. We demonstrate that collagen V, a minor constituent of heart scars, regulates the size of heart scars after ischemic injury. Depletion of collagen V led to a paradoxical increase in post-infarction scar size with worsening of heart function. A systems genetics approach across 100 in-bred strains of mice demonstrated that collagen V is a critical driver of postinjury heart function. We show that collagen V deficiency alters the mechanical properties of scar tissue, and altered reciprocal feedback between matrix and cells induces...
Recent advances in the design and applications of amyloid-β peptide aggregation inhibitors for Alzheimer’s disease therapy, Article Biophysical Reviews ; Volume 11, Issue 6 , 2019 , Pages 901-925 ; 18672450 (ISSN) ; Khazaei, S ; Behnammanesh, H ; Shamloo, A ; Erfani, M ; Beiki, D ; Bavi, O ; Sharif University of Technology
Alzheimer’s disease (AD) is an irreversible neurological disorder that progresses gradually and can cause severe cognitive and behavioral impairments. This disease is currently considered a social and economic incurable issue due to its complicated and multifactorial characteristics. Despite decades of extensive research, we still lack definitive AD diagnostic and effective therapeutic tools. Consequently, one of the most challenging subjects in modern medicine is the need for the development of new strategies for the treatment of AD. A large body of evidence indicates that amyloid-β (Aβ) peptide fibrillation plays a key role in the onset and progression of AD. Recent studies have reported...
Computer aided decision making for heart disease detection using hybrid neural network-Genetic algorithm, Article Computer Methods and Programs in Biomedicine ; Volume 141 , 2017 , Pages 19-26 ; 01692607 (ISSN) ; Alizadehsani, R ; Roshanzamir, M ; Moosaei, H ; Yarifard, A. A ; Sharif University of Technology
Elsevier Ireland Ltd 2017
Cardiovascular disease is one of the most rampant causes of death around the world and was deemed as a major illness in Middle and Old ages. Coronary artery disease, in particular, is a widespread cardiovascular malady entailing high mortality rates. Angiography is, more often than not, regarded as the best method for the diagnosis of coronary artery disease; on the other hand, it is associated with high costs and major side effects. Much research has, therefore, been conducted using machine learning and data mining so as to seek alternative modalities. Accordingly, we herein propose a highly accurate hybrid method for the diagnosis of coronary artery disease. As a matter of fact, the...
DNA impedance biosensor for detection of cancer, TP53 gene mutation, based on gold nanoparticles/aligned carbon nanotubes modified electrode, Article Analytica Chimica Acta ; Vol. 836, issue , July , 2014 , p. 34-44 ; ISSN: 00032670 ; Afshar, A ; Dolati, M ; Dolati, A ; Sharif University of Technology
For the first time, a new platform based on electrochemical growth of Au nanoparticles on aligned multi-walled carbon nanotubes (A-MWCNT) was developed for sensitive lable-free DNA detection of the TP53 gene mutation, one of the most popular genes in cancer research. Electrochemical impedance spectroscopy (EIS) was used to monitor the sequence-specific DNA hybridization events related to TP53 gene. Compared to the bare Ta or MWCNT/Ta electrodes, the synergistic interactions of vertically aligned MWCNT array and gold nanoparticles at modified electrode could improve the density of the probe DNA attachment and resulting the sensitivity of the DNA sensor greatly. Using EIS, over the extended...