最值得关注的是，该突变发生在非编码 DNA 区域 —— 人类 98% 的 DNA 不编码基因，曾被视为 “垃圾 DNA”，如今证实其像软件一样调控基因激活与蛋白质合成。此次突变的是名为 Enh13 的非编码调控元件，它是转录因子的 ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, ...

A study by IRB Barcelona reveals that transfer RNA (tRNA) genes accumulate mutations at a frequency up to nine times higher ...

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual ...

Everyday DNA mutations can help us understand immune function and aging—and even mitigate harm caused by some inherited ...

For roughly one in ten people living with cystic fibrosis, the drugs that have transformed survival for most CF patients are ...

Proteins are like Spider-Man in the multiverse. The underlying story is the same: each building block of a protein is based on a three-letter DNA code. However, change one letter, and the same protein ...

A gene known as CTNNB1 encodes for a crucial protein called β-catenin, which has an important role in controlling tissue repair and cell growth. If this gene and its protein are dysfunctional, it can ...

There are some genes that can promote cancer; they are sometimes called oncogenes, and in tumor cells, mutations are often found in these genes. When they are functioning normally, oncogenes are often ...