From blue jeans to blue genes.
From blue jeans to blue genes.
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DOI：
10.1097/scs.0b013e318193d7a0
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发表时间：
2009-03
期刊：
影响因子：
--
通讯作者：
Vikkula M
中科院分区：
文献类型：
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作者：
Boon LM;Vikkula M
皮肤静脉异常是常见的。它们呈蓝色，大小、数量和位置各不相同，在专门的跨学科诊所血管异常的咨询中占大多数。静脉病变在临床上是重要的，因为它们引起疼痛、功能障碍、邻近组织的破坏和美学问题。只有切除术和硬化疗法是有帮助的，尽管不总是治愈的。了解发病机制有助于设计动物模型和开发新的治疗方法。Mulliken博士设想了一个项目，以揭示一个新英格兰大家庭中一种遗传形式的静脉畸形的遗传基础。招募了两名年轻的研究员，导致了一个合作项目，解开了寻找基因及其突变。这是血管异常领域新时代的开端。两个蓝色基因的突变被发现，这占大多数，如果不是全部，遗传形式的静脉异常，但其他基因以及流变学上的不同病变。鉴别诊断和管理得到了改善，动物模型也在制作中。这要归功于Mulliken博士，他启发了两名穿着蓝色牛仔裤的年轻研究人员找到了两个蓝色基因。
Cutaneous venous anomalies are common. They are blue in color and vary in size, number and location, and account for the majority of consultations at specialized interdisciplinary clinics for vascular anomalies. Venous lesions are clinically important as they cause pain, dysfunction, destruction of adjacent tissues and esthetic concern. Only resection and sclerotherapy are helpful, although not always curative. Understanding etiopathogenesis could help design animal models and develop novel therapeutic approaches. Dr Mulliken envisioned a project to uncover the genetic basis of an inherited form of venous malformation in a large New England family. Recruitment of two young fellows resulted in a collaborative project that unraveled the searched-for-gene and its mutation. This was an opening for a new era in the field of vascular anomalies. Two blue genes’ mutations were discovered, which account for the majority, if not all, of the inherited forms of venous anomalies, but other genes as well, for rheologically diverse lesions. Differential diagnosis and management has improved, and animal models are being made. This was achieved thanks to Dr Mulliken, who inspired two young investigators in blue jeans to find two blue genes.