Dietary intake and growth deficits in Rett syndrome—A cross‐section study
Sign Up to like & getrecommendations! Published in 2021 at "Autism Research"
DOI: 10.1002/aur.2508
Abstract: Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a… read more here.
Keywords: rtt; rett syndrome; study; rtt specific ... See more keywords
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1917
Abstract: BACKGROUND Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing… read more here.
Keywords: rett syndrome; inactivation; xci; status ... See more keywords
Assessment of Caregiver Inventory for Rett Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-017-3034-3
Abstract: Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face,… read more here.
Keywords: caregiver; rett syndrome; burden; assessment ... See more keywords
Quality of life related to clinical features in patients with Rett syndrome and their parents: a systematic review
Sign Up to like & getrecommendations! Published in 2018 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-018-0316-1
Abstract: Patients with a neurodevelopmental disorder such as Rett syndrome (RS), as well as their families, have complex needs that affect their quality of life (QoL). Therefore, both families and patients with RS must be provided… read more here.
Keywords: quality life; systematic review; rett syndrome; clinical features ... See more keywords
Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls
Sign Up to like & getrecommendations! Published in 2018 at "Indian Pediatrics"
DOI: 10.1007/s13312-018-1336-y
Abstract: ObjectiveTo assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome.DesignDescriptive study.SettingTertiary-care medical genetics center.PatientsGirls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical… read more here.
Keywords: testing mecp2; group; rett syndrome; mecp2 gene ... See more keywords
Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2017.03.040
Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder predominately affecting young females, caused by deficiency of the global transcriptional protein methyl CpG binding protein 2 (MeCP2). Osteoblasts express MeCP2 and girls with RTT experience early onset… read more here.
Keywords: treatment; rett syndrome; bone; model ... See more keywords
HDAC inhibitor ameliorates behavioral deficits in Mecp2 308/y mouse model of Rett syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Brain Research"
DOI: 10.1016/j.brainres.2021.147670
Abstract: Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder. More than 95% of classic RETT syndrome cases result from pathogenic variants in the methyl-CpG binding protein 2 (MECP2) gene. Nevertheless, it has been established that… read more here.
Keywords: inhibitor ameliorates; rett syndrome; mecp2 308; mecp2 deficient ... See more keywords
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Contemporary clinical trials"
DOI: 10.1016/j.cct.2022.106704
Abstract: INTRODUCTION Rett syndrome (RTT) is a debilitating neurodevelopmental disorder with no approved treatments. Trofinetide is a synthetic analog of glycine-proline-glutamate, the N-terminal tripeptide of insulin-like growth factor 1. In a phase 2, placebo-controlled trial in… read more here.
Keywords: study; outcome measures; rett syndrome; phase ... See more keywords
Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys
Sign Up to like & getrecommendations! Published in 2017 at "Cell"
DOI: 10.1016/j.cell.2017.04.035
Abstract: Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental… read more here.
Keywords: talen edited; cynomolgus monkeys; rett syndrome; mutant cynomolgus ... See more keywords
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice.
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.04.010
Abstract: Rett syndrome (RTT) is the second leading cause of mental impairment in girls and is currently untreatable. RTT is caused, in more than 95% of cases, by loss-of-function mutations in the methyl CpG-binding protein 2… read more here.
Keywords: mecp2 knockout; rett syndrome; inhibition; gsk3b ... See more keywords
Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Cell reports"
DOI: 10.1016/j.celrep.2020.02.107
Abstract: Regulation of translation during human development is poorly understood, and its dysregulation is associated with Rett syndrome (RTT). To discover shifts in mRNA ribosomal engagement (RE) during human neurodevelopment, we use parallel translating ribosome affinity… read more here.
Keywords: gene sets; ubiquitination; key gene; rett syndrome ... See more keywords