Results 31 to 40 of about 553,309 (213)
Why does the X chromosome lag behind autosomes in GWAS findings?
The X-chromosome is among the largest human chromosomes. It differs from autosomes by a number of important features including hemizygosity in males, an almost complete inactivation of one copy in females, and unique patterns of recombination.
Ivan P Gorlov, Christopher I Amos
doaj +1 more source
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia,
Fang Ping +8 more
doaj +1 more source
Identification of candidate novel production variants on the Bos taurus chromosome X
: Chromosome X is often excluded from bovine genetic studies due to complications caused by the sex specific nature of the chromosome. As chromosome X is the second largest cattle chromosome and makes up approximately 6% of the female genome, finding ...
H. Trebes +10 more
doaj +1 more source
X Chromosome of Female Cells Shows Dynamic Changes in Status during Human Somatic Cell Reprogramming
Induced pluripotent stem cells (iPSCs) acquire embryonic stem cell (ESC)-like epigenetic states, including the X chromosome. Previous studies reported that human iPSCs retain the inactive X chromosome of parental cells, or acquire two active X ...
Kun-Yong Kim +7 more
doaj +1 more source
BackgroundIn female mammalian cells, random X chromosome inactivation (XCI) equalizes the dosage of X-encoded gene products to that in male cells. XCI is a stochastic process, in which each X chromosome has a probability to be inactivated. To obtain more
Kim Monkhorst +10 more
doaj +1 more source
Background Many human disease phenotypes manifest differently by sex, making the development of methods for incorporating X and Y-chromosome data into analyses vital.
Amy M. Inkster +4 more
doaj +1 more source
Many autoimmune diseases, such as lupus and Sjögren’s syndrome, have a female bias and adult onset. One possible explanation for this bias is disruption of the inactive X chromosome, which is a major epigenetic feature in female cells. Indeed, only one X
Wesley H. Brooks, Yves Renaudineau
doaj
I'd like to thank Catherine Montchamp-Moreau and Yun Tao for helpful comments on the manuscript.
openaire +2 more sources
The X chromosome and sex-specific effects in infectious disease susceptibility
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome.
Haiko Schurz +5 more
doaj +1 more source
A 35-year-old man presented with symmetrical inflammatory polyarthritis of the small and large joints and associated early-morning stiffness. He was assessed as having features in keeping with Klinefelter’s syndrome. It is evident from the literature that there is a relationship between Klinefelter’s syndrome and developing rheumatic conditions.
openaire +4 more sources

