【摘 要】
：
Methyl-CpG-binding protein 2 (MeCP2) is broadly recognized as the genetic cause of Rett Syndrome (RTT), a devastating neurodevelopmental disorder with the progressive loss in motor skills and speech that is found almost exclusively in young girls [1, 2].O
【机 构】
：
Institute of Neuroscience, State Key Laboratory of Neuroscience, Chinese Academy of Sciences Center
论文部分内容阅读
Methyl-CpG-binding protein 2 (MeCP2) is broadly recognized as the genetic cause of Rett Syndrome (RTT), a devastating neurodevelopmental disorder with the progressive loss in motor skills and speech that is found almost exclusively in young girls [1, 2].Over 95％ of RTT patients carry loss-of-function mutations in the X-linked MECP2 gene, while the same mutations in males largely lead to infantile death.Still, micro-duplications of the X chromosome segment that encompasses the MECP2 gene give rise to another neurological disorder known as MeCP2 duplication syndrome (MDS) that predominantly affects males,with symptoms including autistic features, seizures, profound intellectual disabilities, recurrent infections, hypotonia, and impaired social interactions.
其他文献
Dear Editor,rnMink circovirus (MiCV),which is clustered in the genus Circovirus of the family Circoviridae,was first described in minks from farms in Dalian,China in 2013 (Lian et al.2014).The complete single-stranded circular genome of the virus is 1,753
Severe brain injury can lead to disorders of consciousness (DOCs).Since DOC patients cannot communicate functionally or behave purposefully,most remain bedridden and require laborious care.The medical community is often confronted with the expectations of
Topical irritants such as capsaicin (CAP),peppermint oil (PO),and mustard oil (MO) are effective in relieving inflammatory muscle pain.We investigated the effects of topical irritants in a rat model of inflammatory muscle pain produced by injecting comple
When facing a sudden danger or aversive condition while engaged in on-going forward motion,animals transiently slow down and make a turn to escape.The neural mechanisms underlying stimulation-induced deceleration in avoidance behavior are largely unknown.
Stroke at the acute stage is a major cause of disability in adults,and is associated with dysfunction of brain networks.However,the mechanisms underlying changes in brain connectivity in stroke are far from fully elucidated.In the present study,we investi
The brain is a marvel of biological evolution, a highly complex organ including hundreds of different types of about 100 billion neurons.Understanding the structure and function of the brain is one of the most challenging scientific questions in the 21st
Dear Editor,rnThe dengue virus (DENV) is a single-stranded positivesense RNA virus that belongs to the family Flaviviridae (Gubler,2002),and has four serotypes,DENV1-DENV4,which are transmitted via Aedes aegypti and Aedes albopictus (Rodriguez-Roche and G
Many studies have shown that,in terms of global burden,mental disorders have exceeded diseases of the cardiovascular and respiratory systems as well as malignant tumors[1].Nevertheless,the pathological mental activities caused by the millions of neurons i