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X-Chromosome Inactivation and Related Diseases
Published 2022-01-01“…X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes. …”
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The Polycomb group protein EED is dispensable for the initiation of random X-chromosome inactivation.
Published 2006-05-01“…The Polycomb repressive complex 2 (PRC2) plays an essential role in mammalian X-chromosome inactivation (XCI), a model system to investigate heritable gene silencing. …”
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Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes
Published 2012-01-01“…Interestingly, majority of the abnormalities involved the X-chromosome and we report two unique abnormalities, (46,XXdel(Xq21-22) and q28) and (mos,45XO/46,X+ringX) involving X chromosome in association with ovarian failure. …”
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A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
Published 2014-01-01“…Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. …”
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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation
Published 2025-01-01Subjects: Get full text
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Genetic parameters and genome-wide association studies including the X chromosome for various reproduction and semen quality traits in Nellore cattle
Published 2025-01-01“…When performing genomic analyses, genetic markers located on the X chromosome have been commonly ignored despite the X chromosome being one of the largest chromosomes in the cattle genome. …”
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X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature
Published 2024-07-01Subjects: Get full text
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Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study
Published 2025-01-01“…Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population. …”
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Assessment of XCI skewing and demonstration of XCI escape region based on single-cell RNA sequencing: comparison between female Grave’s disease and control
Published 2025-01-01Subjects: “…X chromosome inactivation…”
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KDM6A facilitates Xist upregulation at the onset of X inactivation
Published 2025-01-01“…Abstract Background X chromosome inactivation (XCI) is a female-specific process in which one X chromosome is silenced to balance X-linked gene expression between the sexes. …”
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A first study on sperm sexing in water buffalo through magnetic nanoparticles
Published 2023-11-01“…The mean fold expression of the PLP gene (X chromosome bearing sperm) was higher (p<0.05) in all sexed groups (average: 15.34-fold = 91.09% X chromosome bearing sperm) as compared to control (1.60- fold). …”
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SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
Published 2019-01-01“…The anomalies of X chromosome are classified as numerical or structural. …”
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Primary Biliary Cirrhosis in A Patient with Turner Syndrome
Published 2005-01-01“…An increased prevalence of X chromosome monosomy has recently been demonstrated in patients with primary biliary cirrhosis (PBC). …”
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Multiple Roles of the Y Chromosome in the Biology of Drosophila melanogaster
Published 2010-01-01“…Morgan was able to associate the X chromosome of the fruit fly with a phenotypic character (the eye color) for the first time. …”
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Parent-of-origin effects on nuclear chromatin organization and behavior in a Drosophila model for Williams–Beuren Syndrome
Published 2021-09-01“…As is shown in this study, the polytene X chromosome bands in reciprocal hybrids between agnts3 and the wild type strain Berlin are heterogeneous in modes of FEC regulation depending either on maternal or paternal gene origin. …”
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Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation
Published 2007-05-01“…The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. …”
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Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
Published 2018-01-01“…Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. …”
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Evaluation of X-Inactivation Status and Cytogenetic Stability of Human Dermal Fibroblasts after Long-Term Culture
Published 2010-01-01“…We conclude that female HDF cultures exhibit a higher risk of genetic anomalies such as carrying an increased number of X chromosomes including both active and inactive X chromosomes at a high passage (≥P10).…”
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Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome
Published 2013-01-01“…Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. …”
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