新兴的X链基因与女性神经发育障碍相关
Jeronimo Lukin1, Corinne M Smith2, Silvia De Rubeis1
1Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Alper Center for Neural Development and Regeneration, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
与X相关的基因对神经发育障碍 (NDD),如智力障碍 (ID) 和自闭症谱系障碍 (ASD) 产生重大贡献. 本综述侧重于X链接遗传学和神经生物学,特别是女性,以了解NDD风险.
科学领域:
- 遗传学 是一个遗传学.
- 神经生物学 神经生物学 神经生物学
- 发育障碍 发育障碍 发展障碍
背景情况:
- 与X相关的基因是神经发育障碍 (NDD) 的一个主要风险因素.
- 由于半双体性,雄性容易受到X相关变异的影响.
- 最近的研究强调了X相关疾病不成比例地影响女性,具有复杂的遗传和性别差异.
研究的目的:
- 在女性NDD的背景下讨论X链接基因的遗传学和神经生物学.
- 强调整合多样化的数据对于理解NDD的重要性.
主要方法:
- 文献综述和综合遗传,临床和功能数据.
- 专注于与女性NDD相关的范式X链接基因.
主要成果:
- 与X相关的基因变异在NDD的风险架构中起着至关重要的作用.
- 了解X结合基因的性别特异性影响对于理解NDD至关重要.
结论:
- 整合遗传,临床和功能数据是理解X相关变异如何导致NDD风险的关键.
- 对X相关遗传学的进一步研究对于推进NDD的理解和治疗至关重要,特别是在女性中.
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