New discoveries about the severe developmental disorder known as Rett syndrome could open the door to better treatments for the devastating, life-shortening condition.

Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been ...

Scientists investigating the severe developmental disorder known as Rett syndrome have discovered a series of crucial molecular changes that occur long before symptoms appear.

Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly ...

Uncovering the Genetic Mechanism Behind Rett Syndrome July 2, 2021 — Researchers found that the main gene that causes Rett syndrome, MeCP2, controls the differentiation pattern of neural stem ...

More information: Osman Sharifi et al, Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease ...

Bone mineral deficits complicate the clinical course of Rett syndrome (RTT) (1–3), an X-linked neurodevelopmental disorder caused by mutations in the methyl-CpG-binding 2 (MECP2) gene (4).

Her research shows that mutations in the MECP2 gene are responsible for causing Rett syndrome, a childhood disorder that primarily affects females and is diagnosed in around 1 in 10,000 girls born ...

Methyl-CpG-binding protein 2 (MeCP2) is a chromatin regulator whose loss of function causes Rett syndrome. It has been unclear how the gene-expression changes caused by loss of MeCP2 relate to the ...