Results 81 to 90 of about 18,028 (242)
Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome
The FEBS Journal, EarlyView.Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer +6 more
wiley +1 more source
Autonomic Function in Fragile X Syndrome: A Systematic Review
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold +4 more
wiley +1 more source
Increased susceptibility to dicarbonyl stress in Rett syndrome
, 2018 Rett syndrome (RTT) is a rare neurodevelopmental disorder, resulting from mutations in the Xlinked methyl-CpG-binding protein 2 (MECP2) gene. Recent studies have shown that oxidative stress (OS) and subclinical inflammatory status play a key role in RTT
Pecorelli A. +9 more
core
, 2022 The purpose of this paper is to explore the causes, characteristics, and interventions associated with Rett ...
Boyd, Susan V.
core
Factors Associated With Postsurgical Pain in Children and Adolescents With Cognitive Dysfunction
Journal of Clinical Nursing, EarlyView.ABSTRACT Aim To describe the characteristics of paediatric postoperative patients with cognitive dysfunction and assess the prevalence of pain and associated factors. Desing A descriptive observational study. Methods Cross‐sectional study in children and adolescents who had undergone surgery in the previous 72 h with cognitive dysfunction impeding ...
Débora Sierra‐Núñez +8 more
wiley +1 more source
Molecular Diagnosis of Rett Syndrome
, 2005 In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher.
Gärtner, Jutta, Huppke, Peter
core +1 more source
Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome
Egyptian Pediatric Association Gazette, 2015 Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are ...
Hisham Megahed +2 more
doaj +1 more source
BMC Medical Genetics, 2020 Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription.
Carla Caffarelli +6 more
doaj +1 more source
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Aim The aim of this Phase I/II open‐label study was to assess the safety and efficacy of NTI164, a novel full‐spectrum medicinal cannabis plant extract 0.08% Δ‐9‐tetrahydrocannabinol (THC), in Rett syndrome (RTT). Methods Eleven female participants (5–16 years) with a pathogenic variant in the MECP2 gene were recruited to this study, receiving
B. A. Keating +7 more
wiley +1 more source
MUSIC THERAPY IN RETT SYNDROME CASES
, 2018 Rett syndrome is a rare (0,01%) genetic disorder affecting girls\u27 development. Individuals with Rett syndrome experience a full range of health problems that severely influence and complicate their mobility, intellect, communication, learning, and ...
Vita Andziule +5 more
core +2 more sources