In 1958, Francis Crick's sequence hypothesis finally provided an answer to the question: what is a gene? Why is this definition now considered overly simplistic? Roberts and Sharp also noted that ...

Myeloid deficiency of the mitochondrial transacetylase tafazzin upregulates mtROS, disrupting UPR and calcium homeostasis, ...

马凡综合征（Marfan syndrome，MFS）是一种典型的遗传性结缔组织疾病，由 FBN1 基因突变引起，呈常染色体显性遗传。MFS 患者不仅有晶状体异常（如 EL），还伴有骨骼畸形（身材高大、四肢及手指脚趾细长）和胸主动脉瘤、主动脉夹层等症状。韦尔 - 马凯萨尼综合征 2 型（Weill–Marchesani syndrome 2，WMS2）同样是由 FBN1 ...