ArticleFrontiers in psychiatry2012
X-chromosome inactivation in rett syndrome human induced pluripotent stem cells.
Article in Frontiers in psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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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.
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Who cites it
33 citing papers in PubMed, 53 citations in OpenAlex.
- MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Evidence of neuronal DNA damage in the brains of patients with Rett syndrome.Disease models & mechanisms · 2025Article
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
- Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.Molecular biology reports · 2024Article
- Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives.International journal of molecular sciences · 2021Review
- Dental Pulp-Derived Mesenchymal Stem Cells for Modeling Genetic Disorders.International journal of molecular sciences · 2021Review
- Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.Frontiers in neuroscience · 2021Review
- In vitro modeling for inherited neurological diseases using induced pluripotent stem cells: from 2D to organoid.Archives of pharmacal research · 2020Review
- Review
- Expression of Normal or Mutated X-LinkedJournal of dental research · 2020Article
- Autoimmunity in women: an eXClinical immunology (Orlando, Fla.) · 2020Review
- Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders.Stem cell reviews and reports · 2019Article
- Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.Journal of cellular and molecular medicine · 2019Article
- Article
- Transcriptome level analysis in Rett syndrome using human samples from different tissues.Orphanet journal of rare diseases · 2018Review
- Human induced pluripotent stem cells for modelling neurodevelopmental disorders.Nature reviews. Neurology · 2017Review
- Clinical and biological progress over 50 years in Rett syndrome.Nature reviews. Neurology · 2017Review
- Advancing drug discovery for neuropsychiatric disorders using patient-specific stem cell models.Molecular and cellular neurosciences · 2016Review
- A Dishful of a Troubled Mind: Induced Pluripotent Stem Cells in Psychiatric Research.Stem cells international · 2016Review
- Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.Human molecular genetics · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Rett syndrome (RTT) is a neurodevelopmental disorder that affects girls due primarily to heterozygous mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MECP2). Random X-chromosome inactivation (XCI) results in cellular mosaicism in which some cells express wild-type (WT) MECP2 while other cells express mutant MECP2. The generation of patient-specific human induced pluripotent stem cells (hiPSCs) facilitates the production of RTT-hiPSC-derived neurons in vitro to investigate disease mechanisms and identify novel drug treatments. The generation of RTT-hiPSCs has been reported by many laboratories, however, the XCI status of RTT-hiPSCs has been inconsistent. Some report RTT-hiPSCs retain the inactive X-chromosome (post-XCI) of the founder somatic cell allowing isogenic RTT-hiPSCs that express only the WT or mutant MECP2 allele to be isolated from the same patient. Post-XCI RTT-hiPSCs-derived neurons retain this allele-specific expression pattern of WT or mutant MECP2. Conversely, others report RTT-hiPSCs in which the inactive X-chromosome of the founder somatic cell reactivates (pre-XCI) upon reprogramming into RTT-hiPSCs. Pre-XCI RTT-hiPSC-derived neurons exhibit random XCI resulting in cellular mosaicism with respect to WT and mutant MECP2 expression. Here we review and attempt to interpret the inconsistencies in XCI status of RTT-hiPSCs generated to date by comparison to other pluripotent systems in vitro and in vivo and the methods used to analyze XCI. Finally, we discuss the relative strengths and weaknesses of post- and pre-XCI hiPSCs in the context of RTT, and other X-linked and autosomal disorders for translational medicine.
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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.