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Association of X Chromosome Aberrations with Male Infertility
Acta Medica Bulgarica, 2021 Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect.
Xharra S. +5 more
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Immunoglobulins and the X-chromosome [PDF]
BMJ, 1969 Serum levels of immunoglobulins (Ig) G, M, and A were determined in 28 women with an additional X-chromosome (XXX), and in equal numbers of age-matched normal women and men. Mean IgM levels were found to be highest in the XXX group, intermediate in normal women, and lowest in men; these differences were statistically significant.
M. E. Monk-Jones +3 more
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Biophysics and Physicobiology, 2022 X chromosome inactivation center (Xic) pairing occurs during the differentiation of embryonic stem (ES) cells from female mouse embryos, and is related to X chromosome inactivation, the circadian clock, intra-nucleus architecture, and metabolism. However,
Tetsushi Komoto +2 more
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Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the
Ranganath Vallabhajosyula +2 more
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G3: Genes, Genomes, Genetics, 2020 Mouse sex chromosomes are enriched for co-amplified gene families, present in tens to hundreds of copies. Co-amplification of Slx/Slxl1 on the X chromosome and Sly on the Y chromosome are involved in dose-dependent meiotic drive, however the role of ...
Martin F. Arlt +4 more
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A second X chromosome contributes to resilience in a mouse model of Alzheimer’s disease
Science Translational Medicine, 2020 The second X chromosome confers resilience in a mouse model of Alzheimer’s disease potentially through the X-linked gene Kdm6a. The advantage of an extra X Whether sex chromosomes contribute to sex difference in Alzheimer’s disease (AD) is unknown. In AD,
Emily J. Davis +26 more
semanticscholar +1 more source
X chromosome inactivation in human development
Development, 2020 X chromosome inactivation (XCI) is a key developmental process taking place in female mammals to compensate for the imbalance in the dosage of X-chromosomal genes between sexes.
C. Patrat +2 more
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X-Chromosome Inactivation [PDF]
Current Biology, 1994 In female mammals, all X chromosomes except one are transcriptionally inactivated early in embryonic development. This is known as X-chromosome inactivation and is a form of dosage compensation, giving equal dosage of the products of X-linked genes in males and females. The mechanism is of considerable interest as an example of differential behavior of
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Enhanced chromatin accessibility contributes to X chromosome dosage compensation in mammals
Genome Biology, 2021 Background Precise gene dosage of the X chromosomes is critical for normal development and cellular function. In mice, XX female somatic cells show transcriptional X chromosome upregulation of their single active X chromosome, while the other X ...
Irene Talon +13 more
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Landscape of X chromosome inactivation across human tissues
Nature, 2016 X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes
T. Tukiainen +19 more
semanticscholar +1 more source