ArticleJournal of medical genetics1995
X inactivation of the FMR1 fragile X mental retardation gene.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 51 citations in OpenAlex.
- Brief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across Development.Journal of autism and developmental disorders · 2025Article
- Beyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome.Frontiers in psychiatry · 2025Article
- A near normal distribution of IQ in Fragile X Syndrome.Scientific reports · 2024Article
- An emerging link between lncRNAs and cancer sex dimorphism.Human genetics · 2024Review
- The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders.Brain sciences · 2021Review
- Auditory Brain Stem Responses in the C57BL/6J Fragile X Syndrome-Knockout Mouse Model.Frontiers in integrative neuroscience · 2021Article
- Article
- Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome.Journal of neurodevelopmental disorders · 2018Article
- Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.Human molecular genetics · 2013Article
- Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.American journal of human genetics · 2009Article
- Article
- Characterization of loss-of-inactive X in Klinefelter syndrome and female-derived cancer cells.Oncogene · 2004Article
- Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Expression of genes from the human active and inactive X chromosomes.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
X chromosome inactivation has been hypothesised to play a role in the aetiology and clinical expression of the fragile X syndrome. The identification of the FMR1 gene involved in fragile X syndrome allows testing of the assumption that the fragile X locus is normally subject to X inactivation. We studied the expression of the FMR1 gene from inactive X chromosomes by reverse transcription of RNA followed by PCR (RT-PCR), both in somatic cell hybrids which retain an active or inactive human X chromosome and in a female patient with a large deletion surrounding the FMR1 gene. In both analyses, the data indicate that FMR1 is not normally expressed from the inactive X chromosome and is, therefore, subject to X chromosome inactivation. This finding is consistent with the results of previous studies of DNA methylation of FMR1 on active and inactive X chromosomes, verifies previous assumptions about the fragile X locus, and supports the involvement of X inactivation in the variable phenotype of females with full mutations of the FMR1 gene.
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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.