ReviewJournal of medical genetics2005
Rett syndrome: clinical review and genetic update.
Review in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00891956 (The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome), which is not on this map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 212 citations in OpenAlex.
- Autonomic Function in Fragile X Syndrome: A Systematic Review.Journal of intellectual disability research : JIDR · 2026Pooled it
- Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.Scientific reports · 2025Article
- Exploring the uncharted role of cell senescence in rare diseases.Orphanet journal of rare diseases · 2025Review
- Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.Molecular biology reports · 2025Review
- Zebrafish mecp2 null-mutation increases anxiety and cortisol levels but no change in adult social preference and larval chemically-induced hyperlocomotion.BMC neuroscience · 2025Article
- Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.Molecular biology reports · 2024Article
- Synthetic dosage-compensating miRNA circuits allow precision gene therapy for Rett syndrome.bioRxiv : the preprint server for biology · 2024Article
- Rett syndrome: a review of clinical manifestations and therapeutic approaches.Frontiers in sleep · 2024Review
- A Lightweight Drive Implant for Chronic Tetrode Recordings in Juvenile Mice.Journal of visualized experiments : JoVE · 2023Article
- A novel, lightweight drive implant for chronic tetrode recordings in juvenile mice.bioRxiv : the preprint server for biology · 2023Article
- Tissue-Engineered Models of the Human Brain: State-of-the-Art Analysis and Challenges.Journal of functional biomaterials · 2022Review
- CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.Biochemical Society transactions · 2022Review
- Genetic and epigenetic determinants of reactivation of Mecp2 and the inactive X chromosome in neural stem cells.Stem cell reports · 2022Article
- Review
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.International journal of molecular sciences · 2021Review
- WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.International journal of molecular sciences · 2021Article
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Proteins in DNA methylation and their role in neural stem cell proliferation and differentiation.Cell regeneration (London, England) · 2021Review
- A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.Journal of neurodevelopmental disorders · 2020Article
- Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.Journal of autism and developmental disorders · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.