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Specialty: Genetics & Stem Cells
Condition: Thrombosis

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Total 22 results found since Jan 2013.

Perioperative Brain Injury in Children with Aortic Arch Anomalies: A Retrospective Study of Risk Factors and Outcomes
This study examines the incidence, risk factors, and outcomes of perioperative brain injury in children undergoing aortic arch repair who had aortic arch anomalies. A total of 145 children with aortic arch anomalies in our center undergoing aortic arch repair between January 2014 and December 2022 were enrolled. There were 129 (89.0%) with coarctation of the aorta (COA) and 16 (9.7%) with interrupted aortic arch (IAA). Risk factor analysis of brain injuries was done using perioperative imaging and included symptoms of hemorrhagic stroke, arterial ischemic stroke, white matter injury, cerebral sinus venous thrombosis, and o...
Source: Mammalian Genome - August 10, 2023 Category: Genetics & Stem Cells Source Type: research

Genes, Vol. 14, Pages 1382: Synthetic Adrenocorticotropic Peptides Modulate the Expression Pattern of Immune Genes in Rat Brain following the Early Post-Stroke Period
This study gives insight into how the transcriptome depends on the variation in the structure of the related peptides, and it is valuable from the standpoint of the development of measures for early post-stroke therapy.
Source: Genes - June 30, 2023 Category: Genetics & Stem Cells Authors: Ivan B. Filippenkov Julia A. Remizova Vasily V. Stavchansky Alina E. Denisova Leonid V. Gubsky Nikolay F. Myasoedov Svetlana A. Limborska Lyudmila V. Dergunova Tags: Article Source Type: research

Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Conclusion Our data suggest AHRs are frequently associated with Xp22.31 deletion, and highlight subgroups of deletion carriers that may be prioritised for screening. Examining cardiac function further in deletion carriers, and in model systems lacking steroid sulfatase, may clarify AF pathophysiology.
Source: Journal of Medical Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Wren, G., Baker, E., Underwood, J., Humby, T., Thompson, A., Kirov, G., Escott-Price, V., Davies, W. Tags: Open access Genotype-phenotype correlations Source Type: research

CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population
CYP4 subfamily V member 2 (CYP4V2) polymorphisms are related to venous thromboembolism. However, the influence of CYP4V2 polymorphisms on the susceptibility to ischemic stroke (IS) remains undetermined.
Source: BMC Medical Genomics - November 28, 2022 Category: Genetics & Stem Cells Authors: Faqing Long, Desheng Wang, Qingjie Su, Yuhui Zhang, Jianhong Li, Shiliang Xia, Hailun Wang, Yongping Wu and Qiumin Qu Tags: Research Source Type: research

Role of Platelet in Parkinson's Disease: Insights into Pathophysiology & amp; Theranostic Solutions
Ageing Res Rev. 2022 Jul 4:101681. doi: 10.1016/j.arr.2022.101681. Online ahead of print.ABSTRACTParkinson's disease (PD) is the second-most-common neurodegenerative disease characterized by motor and non-motor dysfunctions, which currently affects about 10 million people worldwide. Gradual death and progressive loss of dopaminergic neurons in the pars compacta region of substantia nigra results in striatal dopamine deficiency in PD. Specific mutation with further aggregation of α-synuclein in the intraneuronal inclusion bodies is considered the neuropathological hallmark of this disease. PD is often associated with vario...
Source: Ageing Research Reviews - July 7, 2022 Category: Genetics & Stem Cells Authors: Samir Kumar Beura Abhishek Ramachandra Panigrahi Pooja Yadav Sunil Kumar Singh Source Type: research

Sex-linked genetic mechanisms and atrial fibrillation risk
Eur J Med Genet. 2022 Feb 18:104459. doi: 10.1016/j.ejmg.2022.104459. Online ahead of print.ABSTRACTAtrial fibrillation (AF) is a cardiac condition characterised by an irregular heartbeat, atrial pathology and an elevated downstream risk of thrombosis and heart failure, as well as neurological sequelae including stroke and dementia. The prevalence and presentation of, risk factors for, and therapeutic responses to, AF differ by sex, and this sex bias may be partially explained in terms of genetics. Here, we consider four sex-linked genetic mechanisms that may influence sex-biased phenotypes related to AF and provide exampl...
Source: European Journal of Medical Genetics - February 21, 2022 Category: Genetics & Stem Cells Authors: Georgina Wren William Davies Source Type: research

Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients
Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke.
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao Tags: Research Source Type: research

Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
This article is protected by copyright. All rights reserved. PMID: 32291752 [PubMed - as supplied by publisher]
Source: Clinical Genetics - April 13, 2020 Category: Genetics & Stem Cells Authors: Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, John Tags: Clin Genet Source Type: research

Serum Proteome Alterations in Human Cystathionine β-Synthase Deficiency and Ischemic Stroke Subtypes.
Abstract Ischemic stroke induces brain injury via thrombotic or embolic mechanisms involving large or small vessels. Cystathionine β-synthase deficiency (CBS), an inborn error of metabolism, is associated with vascular thromboembolism, the major cause of morbidity and mortality in affected patients. Because thromboembolism involves the brain vasculature in these patients, we hypothesize that CBS deficiency and ischemic stroke have similar molecular phenotypes. We used label-free mass spectrometry for quantification of changes in serum proteomes in CBS-deficient patients (n = 10) and gender/age-matched unaffected ...
Source: Genomics Proteomics ... - June 24, 2019 Category: Genetics & Stem Cells Authors: Sikora M, Lewandowska I, Kupc M, Kubalska J, Graban A, Marczak Ł, Kaźmierski R, Jakubowski H Tags: Int J Mol Sci Source Type: research

Association between K469E polymorphism of ICAM ‐1 gene and susceptibility of ischemic stroke: An updated meta‐analysis
ConclusionK469E polymorphism of ICAM ‐1 gene might be a risk factor for ischemic stroke in Caucasians, which suggested that K469E polymorphism might help in early identification of those at risk and help in primary prevention of ischemic stroke.
Source: Molecular Genetics & Genomic Medicine - June 2, 2019 Category: Genetics & Stem Cells Authors: Gaurav Nepal, Jayant Kumar Yadav, YuHui Kong Tags: ORIGINAL ARTICLE Source Type: research