Publications by authors named "Kari E Neier"
Article Synopsis
- Female X-linked diseases are rare due to X chromosome inactivation, but Rett syndrome (RTT) is an exception caused by MECP2 mutations.
- In a study using mutant mice, researchers found sex differences in gene expression, with mutant females showing significantly more altered genes than males, even before symptoms appeared.
- The study highlights the importance of both cell type and interactions between different cell types in understanding RTT progression, suggesting potential avenues for treatment.
Article Synopsis
- Dominant X-linked diseases, like Rett syndrome (RTT), are rare because females have X chromosome inactivation, which usually protects against such mutations.
- RTT is a neurodevelopmental disorder that appears in girls after a period of normal development, leading to a regression of skills that researchers still don't fully understand.
- A study using single-nucleus RNA sequencing on a mouse model of RTT found significant sex differences in gene expression, revealing that mutant females had more affected genes than males, which could be vital for understanding disease progression and potential treatments.
