为解决原发性肥厚性骨关节病（PHO）因罕见导致的误诊、漏诊问题，研究人员开展了对 HPGD 变异相关 PHO 的研究。通过对 2 例儿科 PHO 病例的临床和基因分析及文献回顾，发现新变异，明确常见变异类型。这对早期诊断和多学科管理意义重大。 该研究报告了一种新的 HPGD 基因变异 c.189C>A，这一发现大大扩展了 PHO 的已知变异谱。同时，明确了 c.310_311delCT 变异是 ...

Hereditary clubbing is simply a physical feature, like eye color and height. Several genes have been associated with primary clubbing, including the HPGD gene and the SLCO2A1 gene. Clubbing occurs ...

首先是抑制内皮细胞表达与细胞黏附相关的15-羟基前列腺素脱氢酶（HPGD），影响CD8 + T细胞浸润，其次则是抑制巨噬细胞分泌趋化因子CXCL4对CD8 + T细胞的募集。 那么问题来了，制造出SFRP2 High CAFs这个‘“元凶”的又是谁呢 ...

MiR-146b has been identified as being overexpressed in human bladder cancer (BCa) and implicated in promoting cancer cell invasion. However, its specific involvement in BCa cell growth remains unclear ...

Read more about these agents here: https://aws.amazon.com/blogs/machine-learning/accelerate-analysis-and-discovery-of-cancer-biomarkers-with-amazon-bedrock-agents ...