Article

Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression

2024-05-19

Abstract excerpt

Dominant X-linked diseases are uncommon due to female X chromosome inactivation (XCI). While random XCI usually protects females against X-linked mutations, Rett syndrome (RTT) is a female neurodevelopmental disorder caused by heterozygous MECP2 mutation. After 6-18 months of typical neurodevelopment, RTT girls undergo poorly understood regression. We performed longitudinal snRNA-seq on cerebral cortex in a const...

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Literature Corpus work: 99c890b9-e6c3-5e59-b9b8-158bf18e0dcb
DOI: 10.1101/2024.05.16.594595

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