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土耳其患者下垂体神经内分泌瘤的遗传特征

Ceren Alavanda1, Ozcan Sonmez, Bilgen Bilge Geckinli

  • 1Marmara University, Faculty of Medicine, Department of Medical Genetics, Istanbul, Türkiye.

Turkish neurosurgery
|March 25, 2025
PubMed
概括

在垂体神经内分泌瘤 (PitNETs) 中的基因测试确定了AIP和MEN1基因中的致病变体. 患者的年龄和家族病史是检测PitNETs生殖系变异的关键因素.

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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