Loading...
Search for:
thrombocyte-aggregation
0.015 seconds
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
, Article Journal of Human Genetics ; Volume 66, Issue 10 , 2021 , Pages 1009-1018 ; 14345161 (ISSN) ; Raza, S. I ; Zeeshan Anwar, M ; Bharadwaj, T ; Liaqat, K ; Khokhar, M. A. S ; Everard, J. L ; Nasir, A ; Nickerson, D. A ; Bamshad, M. J ; Ansar, M ; Schrauwen, I ; Ahmad, W ; Leal, S. M ; Sharif University of Technology
Springer Nature
2021
Abstract
Background: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes. Results: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously...
Nanomedicine and advanced technologies for burns: Preventing infection and facilitating wound healing
, Article Advanced Drug Delivery Reviews ; Volume 123 , 2018 , Pages 33-64 ; 0169409X (ISSN) ; Sahandi Zangabad, P ; Moosavi Basri, S. M ; Sahandi Zangabad, K ; Ghamarypour, A ; Aref, A. R ; Karimi, M ; Hamblin, M. R ; Sharif University of Technology
Elsevier B.V
2018
Abstract
According to the latest report from the World Health Organization, an estimated 265,000 deaths still occur every year as a direct result of burn injuries. A widespread range of these deaths induced by burn wound happens in low- and middle-income countries, where survivors face a lifetime of morbidity. Most of the deaths occur due to infections when a high percentage of the external regions of the body area is affected. Microbial nutrient availability, skin barrier disruption, and vascular supply destruction in burn injuries as well as systemic immunosuppression are important parameters that cause burns to be susceptible to infections. Topical antimicrobials and dressings are generally...
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
Springer
2019
Abstract
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...