Rett syndrome is caused by mutations of the MECP2 gene located on the X chromosome. Children with Rett initially show typical ...

Rett syndrome is a devastating neurological disorder caused mainly by mutations in the MECP2 gene found on the X chromosome. The disease causes deficits in brain function that lead to behavioural ...

As RTT patients are mosaic with respect to MeCP2 expression owing to random X-chromosome inactivation, gene therapy-based strategies for treatment of RTT that involve increasing MeCP2 expression ...

Zoghbi immediately detected an anomaly in Henry’s case: what appears to be a milder mutation of his MECP2 gene, which in turn causes only a partial decrease of the vital MECP2 protein.

The resulting discord in gene expression leads to Rett syndrome. "In the current study, our goal was to better understand the molecular changes that occur upon loss of MeCP2 function. Previous ...

Rett syndrome is a devastating neurological disorder caused mainly by mutations in the MECP2 gene found on the X chromosome, so mainly affects females. It causes deficits in brain function that ...

In 1999, confirmation was provided by the demonstration of mutations in the MECP2 gene. At present, more than 95% of females who fulfill consensus criteria for Rett syndrome have a mutation in ...

MECP2 mutations are the major genetic mutation associated with Rett syndrome. Diagnosis is made via observable features, which include regression of developmental features, including language and ...

The neurological disorder Rett Syndrome is a debilitating illness with stereotypical motor and cognitive defects resulting from spontaneous mutations in the MeCP2 gene 14. Many of the known Rett ...

Neurogene (NGNE) announced a peer-reviewed publication on its EXACT transgene regulation technology. The preclinical ...

It is caused by a mutation in the MECP2 gene, located on the X chromosome, and is rarely seen in boys. There is currently no disease modifying treatment for Rett syndrome. The EXACT platform has been ...

Cystic fibrosis: Mutations in the CFTR gene, often involving cytosine, disrupt the function of chloride channels, leading to the accumulation of thick mucus in the lungs and digestive system. Rett ...