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Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.
Congenit Anom (Kyoto)
January 2025
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.
Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non-mosaic X chromosome structural rearrangements.
View Article and Find Full Text PDFX*Y females exhibit steeper reproductive senescence in the African pygmy mouse.
Proc Natl Acad Sci U S A
January 2025
Institut des Sciences de l'Evolution de Montpellier, UMR 5554 (CNRS, Université Montpellier, Institut de recherche pour le développement), Montpellier 34090, France.
A wave of studies has recently emphasized the influence of sex chromosomes on both lifespan and actuarial senescence patterns across vertebrates and invertebrates. Basically, the heterogametic sex (XY males in XX/XY systems or ZW females in ZW/ZZ systems) typically displays a lower lifespan and a steeper rate of actuarial senescence than the homogametic sex. However, whether these effects extend to the senescence patterns of other phenotypic traits or physiological functions is yet to be determined.
View Article and Find Full Text PDFPaternal impact on the developmental programming of sexual dimorphism.
Front Cell Dev Biol
December 2024
Institute of Experimental Genetics, Helmholtz Munich GmbH, German Research Center for Environmental Health, Neuherberg, Germany.
Sexual dimorphism involves distinct anatomical, physiological, behavioral, and developmental differences between males and females of the same species, influenced by factors prior to conception and during early development. These sex-specific traits contribute to varied phenotypes and individual disease risks within and across generations and understanding them is essential in mammalian studies. Hormones, sex chromosomes, and imprinted genes drive this dimorphism, with over half of quantitative traits in wildtype mice showing sex-based variation.
View Article and Find Full Text PDFExtra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.
Front Immunol
December 2024
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.
View Article and Find Full Text PDFDissection of X chromosome dosage compensation for quantitative traits in sheep using different statistical models.
Sci Rep
December 2024
Department of Animal Science, Faculty of Agriculture, University of Zanjan, Zanjan, Iran.
Since males and females have different number of X chromosome, different mechanisms have evolved to equalize dosage of gene products from the X chromosome between XX females and XY males. The aim of this study was to study X chromosome dosage compensation for growth rate (GR), Kleiber ratio (KR), efficiency of growth (EF) and relative growth rate (RGR) in Zandi sheep. A two steps procedure was adopted to analysis data.
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