Results 11 to 20 of about 535,016 (293)

Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]

open access: yesJournal 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
doaj   +1 more source

X-Chromosome Inactivation [PDF]

open access: yesCurrent 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
openaire   +2 more sources

Enhanced chromatin accessibility contributes to X chromosome dosage compensation in mammals

open access: yesGenome 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
doaj   +1 more source

X chromosome drive [PDF]

open access: yesCurrent Biology, 2008
I'd like to thank Catherine Montchamp-Moreau and Yun Tao for helpful comments on the manuscript.
openaire   +2 more sources

X chromosome inactivation during Drosophila spermatogenesis. [PDF]

open access: yesPLoS Biology, 2007
Genes with male- and testis-enriched expression are under-represented on the Drosophila melanogaster X chromosome. There is also an excess of retrotransposed genes, many of which are expressed in testis, that have "escaped" the X chromosome and moved to ...
Winfried Hense   +2 more
doaj   +1 more source

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

open access: yesNature Communications, 2016
It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome,
Mitchell J. Machiela   +175 more
doaj   +1 more source

A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow

open access: yesTurkish Journal of Hematology, 2010
We report herein a very rare case of acute lymphoblastic leukemia having a chromosomal constitution of 48,XY,+X,+5,t(9;22)(q34;q11) in the bone marrow.
Burak Durmaz   +5 more
doaj   +3 more sources

Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes

open access: yesScientific Reports, 2021
Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a ...
Weiyin Zhou   +5 more
doaj   +1 more source

Large-Scale Analysis of X Inactivation Variations between Primed and Naïve Human Embryonic Stem Cells

open access: yesCells, 2022
X chromosome inactivation is a mammalian dosage compensation mechanism, where one of two X chromosomes is randomly inactivated in female cells. Previous studies have suggested that primed human embryonic stem cells (hESCs) maintain an eroded state of the
Roni Sarel-Gallily, Nissim Benvenisty
doaj   +1 more source

X chromosome control of meiotic chromosome synapsis in mouse inter-subspecific hybrids. [PDF]

open access: yesPLoS Genetics, 2014
Hybrid sterility (HS) belongs to reproductive isolation barriers that safeguard the integrity of species in statu nascendi. Although hybrid sterility occurs almost universally among animal and plant species, most of our current knowledge comes from the ...
Tanmoy Bhattacharyya   +8 more
doaj   +1 more source

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