The story of Rett syndrome: from clinic to neurobiology
The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in
the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor …
the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor …
MeCP2: the genetic driver of Rett syndrome epigenetics
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …
Rett syndrome: revised diagnostic criteria and nomenclature
Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects
approximately 1 in 10,000 live female births and is often caused by mutations in Methyl‐CpG …
approximately 1 in 10,000 live female births and is often caused by mutations in Methyl‐CpG …
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Rett syndrome (RTT) is an inherited neurodevelopmental disorder of females that occurs
once in 10,000–15,000 births 1, 2. Affected females develop normally for 6–18 months, but …
once in 10,000–15,000 births 1, 2. Affected females develop normally for 6–18 months, but …
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Mecp2 is an X-linked gene encoding a nuclear protein that binds specifically to methylated
DNA (ref. 1) and functions as a general transcriptional repressor by associating with …
DNA (ref. 1) and functions as a general transcriptional repressor by associating with …
[HTML][HTML] Epigenetic mechanisms in cognition
Although the critical role for epigenetic mechanisms in development and cell differentiation
has long been appreciated, recent evidence reveals that these mechanisms are also …
has long been appreciated, recent evidence reveals that these mechanisms are also …
DNA methylation in health and disease
KD Robertson, AP Wolffe - Nature reviews genetics, 2000 - nature.com
DNA methylation has recently moved to centre stage in the aetiology of human
neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These …
neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These …
The epidemiology of mental retardation: challenges and opportunities in the new millennium
There are a number of problems and challenges in relating the science of epidemiology to
mental retardation (MR). These relate to how MR is defined and classified and how these …
mental retardation (MR). These relate to how MR is defined and classified and how these …
Understanding the rhythm of breathing: so near, yet so far
Breathing is an essential behavior that presents a unique opportunity to understand how the
nervous system functions normally, how it balances inherent robustness with a highly …
nervous system functions normally, how it balances inherent robustness with a highly …
Rett syndrome: a neurological disorder with metabolic components
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …