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单词 VHL disease
释义

VHL disease

中文百科

希佩尔-林道综合征 Von Hippel–Lindau disease

(重定向自VHL disease)
裂隙灯照片显示VHL疾病的视网膜分离
VHL综合征是常染色体显性遗传模式
对于VHL疾病最早的描述

希佩尔-林道综合征Von Hippel–Lindau diseaseVHL综合征)是一种罕见的常染色体显性遗传性疾病,表现为血管母细胞瘤累及小脑、脊髓、肾脏以及视网膜。其若干病变包括肾脏血管瘤、肾细胞癌以及嗜铬细胞瘤等。疾病是因位于染色体3P25.3的VHL抑癌基因发生突变所致。

英语百科

Von Hippel–Lindau disease 希佩尔-林道综合征

(重定向自VHL disease)
Slit lamp photograph showing retinal detachment in Von Hippel-Lindau disease.
Von Hippel–Lindau disease is inherited in an autosomal dominant pattern.
The regulation of HIF1α by pVHL. Under normal oxygen levels, HIF1α binds pVHL through 2 hydroxylated proline residues and is polyubiquitinated by pVHL. This leads to its degradation via the proteasome. During hypoxia, the proline residues are not hydroxylated and pVHL cannot bind. HIF1α causes the transcription of genes that contain the hypoxia response element. In VHL disease, genetic mutations cause alterations to the pVHL protein, usually to the HIF1α binding site.

Von Hippel–Lindau disease (VHL) is a disease which results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.

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更新时间:2025/6/18 6:20:15