在探索腭裂发病机制的道路上，科学家们遇到了重重困难。一方面，遗传因素复杂多样，众多基因相互交织，难以理清头绪；另一方面，环境因素也错综复杂，各种因素之间的相互作用更是让研究难度加大。然而，这些困难并没有阻挡科学家们前进的脚步，他们坚持不懈地寻找着突破点。

Genetics 2/13 probands had molecular autopsy with pathogenic variants and 1 with phenotypic features of Loeys-Dietz syndrome (LDS) had a TGFBR1 Variant of Uncertain Significance (VUS). In one family, ...

Corrigendum to: miR-4458 inhibits the epithelial-mesenchymal transition of hepatocellular carcinoma cells by suppressing the TGF-β signaling pathway via targeting TGFBR1. Retraction: Down ...

正当何芳一家不知所措之际，北京协和医院与中国科学院自动化研究所联手打造的人工智能大模型“协和·太初”正式上线，为罕见病患者带来了新的希望。这款基于中国人群数据积累的AI工具，旨在通过智能化手段辅助罕见病的诊断与治疗，减少误诊率，提高诊疗效率。

Correspondence to Professor Marc E Rothenberg, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Marc.Rothenberg{at}cchmc.org Objective The ...

Background: Domestication of wild boars into local and intensive pig breeds has driven adaptive genomic changes, resulting in significant phenotypic differences in intestinal immune function. The ...

Background: Lung adenocarcinoma (LUAD) is one of the most common malignant tumors globally, characterized by poor prognosis and high mortality. Abnormal fatty acid metabolism plays a crucial role in ...

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

Division of Cardiovascular Surgery, Peter Munk Cardiac Centre, University Health Network, Toronto, ON, Canada (B.S., M.X.D., J.C.Y.C., M.O.). Division of ...