ArticlePloS one2016
Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02738281 (Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol), which is not on this map. Cited by 16 papers.
What it found
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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.
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- MeCP2 Dosage Control in Rett Syndrome: Non-Coding RNA-Based and Epigenetic Strategies for Safer Gene Therapy.Non-coding RNA · 2026Review
- MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Lifespan in rodents with MYT1L heterozygous mutation.Scientific reports · 2025Article
- Rett Syndrome: Thinking Beyond Brain Borders.Advances in experimental medicine and biology · 2025Review
- Review
- Lifespan in rodents with MYT1L heterozygous mutation.Research square · 2024Article
- Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024Review
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- Breathing disturbances in Rett syndrome.Handbook of clinical neurology · 2022Review
- Mecp2 protects kidney from ischemia-reperfusion injury through transcriptional repressing IL-6/STAT3 signaling.Theranostics · 2022Article
- Rett syndrome: think outside the (skull) box.Faculty reviews · 2021Review
- Consensus guidelines on managing Rett syndrome across the lifespan.BMJ paediatrics open · 2020Article
- Methyl-CpG Binding Protein 2 in Alzheimer Dementia.International neurourology journal · 2019Article
- Treating Rett syndrome: from mouse models to human therapies.Mammalian genome : official journal of the International Mammalian Genome Society · 2019Review
- Rett syndrome: a neurological disorder with metabolic components.Open biology · 2018Review
- Genetic rodent models of brain disorders: Perspectives on experimental approaches and therapeutic strategies.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.
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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.