Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
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چکیده
منابع مشابه
Cerebral Cavernous Malformation Panel
Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These closely clustered irregular dilated capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can caus...
متن کاملIntroduction to cerebral cavernous malformation: a brief review
The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic ...
متن کاملCerebral arteriovenous malformation causing epistaxis.
Epistaxis can be life threatening and may not respond to conventional conservative measures such as packing. In our institution, between 1984 and 1991, we have treated 65 patients with embolization who had epistaxis that did not stop with nasal packing, with a success rate of 90%. This case report illustrates an unusual example of epistaxis due to a right frontal arteriovenous malformation (A V...
متن کاملUnusual Presentation of Cerebral Cavernous Malformation
Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings...
متن کاملKRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.
Mutations in Krev1 interaction trapped gene 1 (KRIT1) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cerebral capillaries resulting in cerebral hemorrhage, strokes, and seizures. The biological functions of KRIT1 are unknown. We have investigated KRIT1 expression in endothelial cells by using specific anti-KRIT1 antibodies. By both microscopy and ...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1995
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.92.14.6620