六例KIF1A基因变异相关常染色体显性遗传神经发育障碍患儿临床和遗传学分析
静琦 林, 牛 李, 如恩 姚, 婷婷 郁, 秀敏 王, 剑 王 · 2023
Read 六例KIF1A基因变异相关常染色体显性遗传神经发育障碍患儿临床和遗传学分析 by 静琦 林, 牛 李, 如恩 姚, 婷婷 郁, 秀敏 王, 剑 王 (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10764188.txt.
Description
Jingqi Lin and co-authors study six children with a gene-linked brain growth disorder in a 2023 paper. The gene, KIF1A, helps move cargo inside nerve cells. Faults in it can slow motor and mind growth from early life.
Cases came from a Shanghai children's hospital across 2018 to 2020. All six children had fresh gene faults not passed from parents, and all showed motor delay. Some also had mind delay, seizures, or eye faults. Five fault spots were found, three of them new to science. Lab models checked how the faults bend the protein's shape and strength. The work widens the known fault list for this gene.
Catalog record
| CREATOR | 静琦 林, 牛 李, 如恩 姚, 婷婷 郁, 秀敏 王, 剑 王 |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |