Results 61 to 70 of about 3,757,153 (283)
, 2019 Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT ...
Blasco, Laura +7 more
core +1 more source
Nature Reviews Disease PrimersRett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain.
Asuncion RMD, Ramani PK.
europepmc +6 more sources
Science Translational Medicine, 2019 KCC2 expression–enhancing small molecules rescue cellular and behavior deficits in human RTT neurons and Mecp2 mutant mice. Restoring balance in Rett syndrome Rett syndrome (RTT) is a neurodevelopmental disorder causing cognitive, motor, and emotional ...
Xin Tang +11 more
semanticscholar +1 more source
Augmentative and Alternative Communication : AAC, 2020 Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with ...
G. Townend +4 more
semanticscholar +1 more source
Drug Repurposing for Treating NCOR‐Related Intellectual Disability
Advanced Science, EarlyView.An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong +15 more
wiley +1 more source
EEG Findings in Patients with Rett Syndrome
, 2017 Objectives: Rett syndrome (RS) is a neurodevelopmental disorder that primarily affects girls and is characterized by microcephaly, regression of language, loss of effective hand use, epilepsy, and electroencephalogram (EEG) abnormalities.
Oge, Ali Emre +9 more
core +1 more source
Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models
Nature Communications, 2021 MeCP2 mutations can cause Rett syndrome, a severe childhood neurological disorder. Here the authors show that MeCP2 mediates the higher-order assembly of a large splicing complex Rbfox/LASR, which is disrupted in the mouse models of Rett syndrome.
Yan Jiang +13 more
doaj +1 more source
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
Brain : a journal of neurology, 2019 With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding ...
A. Banerjee +4 more
semanticscholar +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Treating Rett syndrome: from mouse models to human therapies
Mammalian Genome, 2019 Rare diseases are very difficult to study mechanistically and to develop therapies for because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome (RTT) is discussed as a prototype for precision medicine, demonstrating how ...
N. Vashi, M. Justice
semanticscholar +1 more source