论文通过对一个伊朗家族的研究，发现了 TMEM53 基因的新型纯合错义变异，为 CTDI 的诊断和治疗提供了新的见解。研究建议早期进行全面的临床和基因评估，并给予适当治疗，这将有助于改善 CTDI 患者的预后。这不仅为该家族患者带来了新的希望，也为未来更多 CTDI 病例的诊治提供了参考依据。

Vanda Pharmaceuticals Inc. (Vanda) (Nasdaq: VNDA) and AnaptysBio, Inc. (Anaptys) (Nasdaq: ANAB) today announced an exclusive, ...

Genetic study in Indian children reveals socioeconomic status significantly influences genetic susceptibility to childhood ...

In a Phase I/II trial, patients with X-linked chronic granulomatous disease will receive a treatment created using a new ...

Figure 1: a, Baseline in vivo tracings of left ventricular (LV) pressure (upper) and the first derivative of ventricular pressure (dP/dt; lower) for young and older mice in both groups. Figure 2 ...

There is some redundancy in that genetic code, but there are single-base pair changes, or mutations, that can alter the resulting amino acid. These are known as missense mutations, and scientists have ...

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers ...