Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency

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Matrix Gla protein limits pulmonary arteriovenous malformations in ALK1 deficiency.

Hereditary haemorrhagic telangiectasia (HHT), also referred to as the Osler–Weber–Rendu syndrome, is characterised by multiple arteriovenous malformations (AVMs) in different organs including lungs, brain, liver, intestine and spleen [1]. Five types of HHT have been identified [1]. Mutations in the gene for the activin receptor-like kinase 1 (Alk1), a bone morphogenetic protein (BMP) type I rec...

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Arteriovenous malformations (AVMs) in organs, such as the lungs, intestine, and brain, are characteristic of hereditary hemorrhagic telangiectasia (HHT), a disease caused by mutations in activin-like kinase receptor 1 (ALK1), which is an essential receptor in angiogenesis, or endoglin. Matrix Gla protein (MGP) is an antagonist of BMPs that is highly expressed in lungs and kidneys and is regulat...

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Cerebral Arteriovenous Malformations

Background and Purpose Surgical excision of cerebral arteriovenous malformations (AVMs) may be complicated by postoperative breakthrough edema and hemorrhage and by intracranial hypertension. Embolization, staged resection, and meticulous surgical technique have decreased but not completely eliminated this complication. In this study we prospectively assess the prevalence of intracranial hypert...

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Occult cerebral arteriovenous malformations.

Angiographically occult arteriovenous malformations in the brain are rare but cause considerable diagnostic difficulty. Four personal cases are presented in which CT scans showed hypodense lesions with minimal or no enhancement, and angiograms showed only an avascular mass. Gliomas, a dermoid and an infarct were suspected before histological examination of biopsies or excised specimens. The pat...

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Cerebral arteriovenous malformations.

INTRODUCTION Arteriovenous malformations (AVMs) are vascular abnormalities consisting of fistulous connections of arteries and veins without a normal intervening capillary bed. In the cerebral hemispheres, they frequently occur as cone-shaped lesions with the apex of the cone reaching toward the ventricles. Nearly all AVMs are thought to be congenital. Supratentorial location is the most common...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2013

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.1310905110