The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26
Open accessAbstract
Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been increasing because noninvasive diagnostic equipment, such as magnetic-resonance imaging and magnetic-resonance angiography, can detect the disease in almost all affected patients, including asymptomatic patients, during screening studies. In this study, we performed a total genome search to identify the location of a familial moyamoya disease gene in 16 families, assuming an unknown mode of inheritance. A linkage was found between the disease and markers located at 3p24.2-26. A maximum NPL score of 3.46 was obtained with marker D3S3050. This is the first genetic locus found to be involved in the molecular pathogenesis of familial moyamoya disease.
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Cites
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Moyamoya Disease and Moyamoya Syndrome
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Cerebral Hemorrhage: Pathophysiology, Treatment, and Future Directions
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Vascular remodeling after ischemic stroke: mechanisms and therapeutic potentials.
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Metadata
- Authors
- Ikeda, H., Sasaki, T., Yoshimoto, T., Fukui, M., & Arinami, T.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1999-02
- Volume
- 64
- Issue
- 2
- Pages
- 533-537
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2068736510
- Cited by
- 287
- References
- 11
- FWCI
- 4.58
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Ikeda, H., Sasaki, T., Yoshimoto, T., Fukui, M., & Arinami, T. (1999). Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26. The American Journal of Human Genetics. https://doi.org/10.1086/302243
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
