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Updated: May 22, 2025

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通过基因组,表型,功能,结构和深度学习整合来映射甲状腺激素输送体MCT8中的变体到疾病严重程度

Stefan Groeneweg1, Ferdy S van Geest1, Mariano Martín2,3

  • 1Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.

Nature communications
|March 13, 2025
PubMed
概括

研究人员在MCT8基因中绘制了基因变异,揭示了MCT8缺陷的基因型-表型联系,并在一般人群中确定了轻微的表型. 这项工作有助于了解罕见的遗传疾病.

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The transport of solutes across the cell membrane is essential for metabolic processes, like maintaining cell size and volume, generating the action potential, exchanging nutrients and gases, etc. Membrane transport can be either passive or active. It can be simple diffusion, facilitated, or mediated transport aided by transport proteins such as transporters and channels.
Transporters facilitate either an active or passive movement of solutes. They can allow a single-molecule transport down its...
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