Semenza Gregg L
McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Maryland, Baltimore, USA.
Am J Med Genet A. 2021 Aug;185(8):2576-2581. doi: 10.1002/ajmg.a.62250. Epub 2021 May 11.
Hypoxia-inducible factors (HIFs) activate gene transcription in response to reduced O availability and play critical roles in development, physiology, and disease pathogenesis. Mutations that dysregulate HIF activity are the genetic basis for tumor predisposition in the von Hippel-Lindau syndrome and excess red blood cell production in hereditary erythrocytosis.
缺氧诱导因子（HIFs）可响应氧供应减少而激活基因转录，并在发育、生理学和疾病发病机制中发挥关键作用。调节HIF活性异常的突变是冯·希佩尔-林道综合征中肿瘤易感性以及遗传性红细胞增多症中红细胞过度生成的遗传基础。
