Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia
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منابع مشابه
Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast...
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This is the first scientific report of hereditary hemorrhagic telangiectasia (HHT) epistaxis treatment by intranasal spraying of the vascular endothelial growth factor (VEGF) inhibitor bevacizumab (Avastin). Epistaxis in patients with HHT is a morbid, mortal condition that is difficult and unpleasant to manage. Nasal telangiectasia growth is modulated by VEGF, which is elevated in HHT patients....
متن کاملCerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia.
BACKGROUND AND PURPOSE Hereditary hemorrhagic telangiectasia type 1 (HHT1) is an autosomal dominant vascular dysplasia caused by mutations in the endoglin gene and characterized by dilated vessels and arteriovenous malformations (AVMs). To understand the etiology of this disorder, we evaluated the cerebral vasculature of endoglin heterozygous (Eng+/-) mice, which represent the only animal model...
متن کاملHereditary Hemorrhagic Telangiectasia Management.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. The management of HHT can in...
متن کامل5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
BACKGROUND Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to i...
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ژورنال
عنوان ژورنال: Science Signaling
سال: 2018
ISSN: 1945-0877,1937-9145
DOI: 10.1126/scisignal.aan6831