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The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive cerebrovascular disease that is reported to be complicated by coronary artery disease. Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested.
This article was published in the following journal.
Name: PloS one
Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknow...
The RING finger protein 213 (RNF213) is an important susceptibility gene for moyamoya disease (MMD) and is also implicated in other types of intracranial major artery stenosis/occlusion (ICAS); howeve...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3, primarily affects small cerebral arteries; however, stenosis of major intracrani...
A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a ...
The examination of cerebral hemodynamics is indispensable for the clinical management of patients with moyamoya disease (MMD). In this study, we examined the correlation between clinical presentations...
The purpose of this study is to determine if people with moyamoya disease who have insufficient blood flow are at a higher risk for stroke.
To explore the prevalence of genetic polymorphism on RNF213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease in Thai patients.
The investigators conducted a prospective multi-center study assessing the effect of direct bypass and indrect bypass in treatment of hemorrhagic moyamoya disease.
To determine the incidence and risk factors in the development of ovarian, fallopian tube, and peritoneal cancers in Japanese women carrying Breast Cancer Susceptibility Gene (BRCA)1/2 var...
EEG in moyamoya disease in children preoperatively
A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
The inflammation of a sweat gland (usually of the apocrine type). The condition can be idiopathic or occur as a result of or in association with another underlying condition. Neutrophilic eccrine hidradenitis is a relatively rare variant that has been reported in patients undergoing chemotherapy, usually for non-Hodgkin lymphomas or leukemic conditions.
Human histocompatibility (HLA) surface antigen encoded by the B locus on chromosome 6. It is in linkage disequilibrium with HLA-A1 and HLA-DR3. This explains the fact that though HLA-B8 was originally associated with several diseases, including celiac disease, dermatitis herpetiformis, and myasthenia gravis, their association with HLA-DR3 is now considered more significant.
A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.
A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)
Stroke - Cerebrovascular Disease (CVA)
A stroke is a serious medical condition that occurs when the blood supply to part of the brain is cut off. Strokes are a medical emergency and prompt treatment is essential because the sooner a person receives treatment for a stroke, the less damage is ...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...