ArticleAmerican journal of human genetics1994
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 92 citations in OpenAlex.
- Review
- Sexually dimorphic actions of glucocorticoids: beyond chromosomes and sex hormones.Annals of the New York Academy of Sciences · 2014Review
- Cognitive assessment of mice strains heterozygous for cell-adhesion genes reveals strain-specific alterations in timing.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2014Article
- Changes in histone acetylation during mouse oocyte meiosis.The Journal of cell biology · 2003Article
- Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.Indian journal of pediatrics · 2000Review
- Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Journal of medical genetics · 1998Article
- Regulation of X-chromosome inactivation in development in mice and humans.Microbiology and molecular biology reviews : MMBR · 1998Review
- Distinctive patterns of histone H4 acetylation are associated with defined sequence elements within both heterochromatic and euchromatic regions of the human genome.Nucleic acids research · 1998Article
- Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells.Human genetics · 1996Article
- Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.Journal of medical genetics · 1996Review
- XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure.The Journal of cell biology · 1996Article
- Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.American journal of human genetics · 1996Article
- Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.American journal of human genetics · 1995Article
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 2 institutions in 2 countries.
Funding
Abstract
Mental retardation and a constellation of congenital malformations not usually associated with Turner syndrome are seen in some females with a mosaic 45,X/46,X,r(X) karyotype. Studies of these females show that the XIST locus on their tiny ring X chromosomes is either not present or not expressed. As XIST transcription is well correlated with inactivation of the X chromosome in female somatic cells and spermatogonia, nonexpression of the locus even when it is present suggests that these chromosomes are transcriptionally active. We examined the transcriptional activity of ring X chromosomes lacking XIST expression (XISTE-), from three females with severe phenotypes. The two tiny ring X chromosomes studied with an antibody specific for the acetylated isoforms of histone H4 marking transcribed chromatin domains were labeled at a level consistent with their being active. We also examined tow of the XISTE- ring chromosomes to determine whether genes that are normally silent on an inactive X are expressed from these chromosomes. Analyses of hybrid cells show that TIMP, ZXDA, and ZXDB loci on the proximal short arm, and AR and PHKA1 loci on the long arm, are well expressed from the tiny ring X chromosome lacking XIST DNA. Studies of the ring chromosome that has XIST DNA but does not transcribe it show that its AR allele is transcribed along with the one on the normal X allele.(ABSTRACT TRUNCATED AT 250 WORDS)
Indexed as
Identifiers
8079992PMC1918382W2992741852What 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.